Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

Paediatrics Royal College > Endo/Allergy/Immuno > Flashcards

Endo/Allergy/Immuno Flashcards

You may prefer our related Brainscape-certified flashcards:
Royal College: Emergency Medicine flashcards
1
Q

What are the characteristics of familial short stature?

A

Normal growth velocity
BA=CA
Predicted adult ht appropriate for mid=parental height

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What are the characteristics constitutional delay of growth and maturation?

A

Normal growth velocity

BA delayed 2-4 ages

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

What is the significance of BA and CA being > 3 year apart?

A

always pathologic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

What are the characteristics of GH deficiency?

A

Congenital or acquired
Isolated or mutiple pituitary hormone deificenices

Poor growth velocity
Delayed bone age
Low response on GH stim tests
Low IGF-1

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

What are the stages of female pubertal development?

A
  1. Breast
  2. Hair
  3. Growth
  4. Menarche
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

What are the stages of male pubertal development?

A
  1. Testicular volume
  2. Penile length
  3. Hair
  4. Growth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

What is premature thelarche?

A

Isolated breast development
6-24 months
Does not exeed SMR 3
No change in growth percentile

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

What is premature adrenarche?

A

Pubic hair and axillary hair, body odor, acne but no thelarche
Ealy secretion of DHEA
NO change in growth %
Bone age=CA

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is the definition of precious puberty?

A

Pubertal signs prior to 8 in girls and 9 in boys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

What are the red flags for precious puberty?

A

Rapid progression
BA progressed beyond 2 years
Predicted adult ht

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

What is a clue to differentiate central vs. peripheral precious puberty?

A

If it occurs out of the normal sequence likely peripheral

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Clue to peripheral PP in girls?

A

Estrogen dependent effects predominate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Clue to peripheral PP in boys?

A

Testes are inappropriately small

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

What is the definition of delayed puberty?

A

Absence of secondary sex characteristics after 13 in girls and 14 in boys

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

What are the clues to primary gonadal failure?

A

Elevated LH and FSH with low testosterone and estrogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What are the clues to permanent of functional pituitary or hypothalamic dysregulation?

A

Low LH and FSH with low testosterone/estrogen

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

What are the characteristics of Turner Syndrome?

A

45XO
Mean adult height 144 cm
GH improved height
Gonadal failure 96%, infertility 99%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

What are the characteristics of Klinefelter syndrome?

A

47XXY
1in 600 males
Puberty often begins at appropriate age with penile enlargement and pubic hair then stalls
SMALL FIRM TESTES, gynecomastia, infertility
Increased learning and behavioral difficulties

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

What are the characteristics of ketotic hypoglycemia?

A

Common form of childhood hypoglycemia
18M-5Y
Typically during periods of intercurrent illness, limited food intake
Associated with ketonuria and ketonemia

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

What is the starting dose of insulin in DMT1?

A

0.5Units/kg/day

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What is the sick day management for DMT1?

A

Give 10-20% of TDD as rapid insulin by SC or pump

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

What is the insulin sensitivity factor?

A

Amount BG will drop for every unit of rapid insulin given
100/TDD
Eg. TDD=40 therefore ISF=2.5 (1 unit will drop BG by 2.5)
Give enough rapid insulin to lower BG to a target of 6-8 mmol

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

What is most likely for a child with ambigious gentalia with bilaterall masses in the folds?

A

Almost always testis therefore a unvirulized male

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

What defines clitriomegaly?

A

> 1 cm

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

What defines micropenis?

A
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

What is the approach to DSD?

A
  1. Is it a virilized 46XX or undervirilized 46 XY or mosaicism?
  2. Are the gonads palpable?
  3. Karyotype
  4. Ultrasounds
  5. Exclude lifethreatening CAH
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

What is the DDX for a virilized female?

A
  1. CAH
  2. Virilizing maternal disease
  3. Maternal androgen use
  4. Mixed gonadal dysgenesis

Basic labs: 17 OHP lytes, glucose, ACTH, renin, tesosterone, LH, FSH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

What is the DDX for an undervirilized male?

A
  1. Reduced testosterone production
  2. Abnormal testicular development
  3. Testosterone biosynthetic defect
  4. 5 alpha reductase deficiency
  5. Androgen receptor disorder

Labs: Testosterone, dihydrotestosterone, LH, FSH, Mullerian inhibiting substance, lytes, glucose

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

What percentage of pediatric thryoid nodules are malignant?

A

20%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

Who is at risk for Ricketts?

A 
Exclusively breastfed
Moms with Vit D deficiency
Not exposed to enough sunlight
Darker skin
Northern communitities
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

Peaks incidence of DMT1?

A

2
4-6
10-14

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

What is the pathogenesis of DMT1?

A

Destruction of the beta cells of the pancreas

80% must be destroyed to affect glycemic control

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

How do you diagnose DMT1?

A

Random >11.1

Fasting >7

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

What are the acute complications of DMT1?

A

DKA- If ketones give 10-20% of TDD until no ketones

Hypoglycemia-

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

What are the long term complications of DMT1?

A 
ASsociated autoimmune disorders
Growth
Retinopathy- 10Y then Q3-5Y
Nephropathy-10Y with DM>5Y annual urine microalbumin
Neuroapthy
Macrovascular
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

What are the biochemical criteria for DKA?

A

Glucose >11

PH

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

What is the initial ketone formed in DKA?

A

Acteoacetic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

Does strip testing accurately access severity of ketosis?

A

NO because Bhydroxybuttrate doesn’t react

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

What happens to Na in DKA?

A

Increased plasma osmolality
H2O moved out of cells therefore diluted
Osmotic diuresis therefore more free water loss

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

What happens to K in DKA?

A

Osmotic diuresis and ketoacid load cause increased K excretion
However movement out of the cells because of low pH
Increased serum K but decreased total bodyK

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

Starting dose for insulin in DKA?

A

0.05-0.1 units/kg/hour

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
42
Q

How long should the insulin infusion continue?

A 
AG normal
pH > 7.3
HCO3 >15
Glucose >11
Tolerating PO intake
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
43
Q

What are the possible complications of DKA?

A
  1. Cerebral edema
  2. DVT
  3. Aspiration
  4. Arrhythmia
  5. Increased amylase and lipase
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
44
Q

What are the risk factors for DMT2?

A

Obesity
Family history
Racial background
Puberty and conditions of insulin resistance

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
45
Q

How do you screen for DMT2?

A

Fasting blood glucose at 10 year or puberty

Repeated Q2Y

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
46
Q

Where are catecholamines produced?

A

Adrenal inner medulla

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
47
Q

Where are steroid hormones produced?

A

Adrenal outer cortical tissue:

  1. Zona glomerulosa: Mineralocorticoids
  2. Zona fasciculate: glucocorticoids
  3. Zona reticularis: sex hormones
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
48
Q

What is aldosterone?

A

Regulated by RAS and K elvels

Maintenance of intravascular volume through conserving sodium and eliminating K/H

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
49
Q

What is required for differentiation of sex organs?

A

Sex determining region on Y chromosome

Early gonads are bipotential until 6-8 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
50
Q

What is required to be male?

A

Testosterone from Leydig cells- directs formation of internal male urogential tract from WOlffian ducts

Anti-Mullerian hormone from Sertoli cells- suppresses development of Mullerian ducts

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
51
Q

What is the role of DHT?

A

More potent testosterone
In the presence of DHT, will develop into male structures
DHT made from test by 5 alpha reductase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
52
Q

What should be offered to parents who are known carriers or have a child with CAH?

A

Dexamethasone before 7-8 weeks to suppress fetal HPA before virilization
70% of female with have normal gentalia at birth
DO an CVS 10-12 weeks or Amino at 14-18 weeks to determine if male or female. If male, d/c dex

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
53
Q

What are the symptoms of cushing syndrome?

A
  1. Moon facies
  2. Buffalo hump
  3. Truncal obesity
  4. Striae
  5. HTN
  6. Hyperglycemia
  7. Masculinization
  8. growth failure
  9. Amenorhhea
  10. Osteoporosis
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
54
Q

What are the adverse effects of steroids?

A 
Growth suppresion
Myopathy
AVN
Osteopenia
Immunosuppresion
Peptic ulceration
HTN
Hyperlipidemia
Cataracts
Pseudotumor cerebri
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
55
Q

Why is congenital hypothryoidism so bad?

A

T4 is critical to the myelinization of the CNS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
56
Q

What are symptoms of congential hypothyroidism?

A 
Large posterior fontanelle
Lethargy
Hypotonia
Hoarse cry
Feeding problems
Constipation
Macroglossia
Umbilical hernia
Dry skin
Hypothermia
Prolonged jaundice
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
57
Q

What is the difference between primary and secondary adrenal insufficiency?

A

Primary: Adrenal gland abN
Secondary: hypothalamic or pituitary dysfunction

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
58
Q

What is the DDX of a primary adrenal insufficiency?

A 
Inherited: CAH, CAhypoplasia
Autoimmune: APS
Infectious: TB, Meingococcemia
Trauma
Adrenal hypoplasia
Oatrogenic
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
59
Q

What are the most common causes of secondary adrenal insufficiency?

A 
Prolonged steroid use
Tumor
CNS trauma
irradiation
Infection
Surgery
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
60
Q

How can you tell primary vs secondary adrenal insufficiency?

A

Primary: ACTH elevated, hyperpigmented, hypoNA, hyperK

Secondary: ACTH low, no hyperpig, Isolated hypoNA HISTORY OF A CNS INSULT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
61
Q

What is the most common form of CAH?

A

21- Hydroxylase deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
62
Q

What are the causes of hypercalcemia?

A 
High 5-Is
Hyperparathyroidism
Idiopathic: Williams
Infantile: SubQ fat necrosis
Infection:TB
Infiltration: Malignancy, Sarcoid
Ingestion
Skeletal disorders
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
63
Q

Two PE exam for calcium?

A

Chvostek sign: tapping on the parotid gland results in muscle spasm with movement of the upperlip (CH=cheek)
Trousseau: spasm with blood pressure cuff

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
64
Q

What are the main causes of hypocalcemia?

A 
Nutritional -Vita D
Renal insufficiency
Nephrotic syndrome
Hypoparathyroidism
PseudohypoPTH
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
65
Q

What are the risk factors for cerebral edema in DKA?

A 
1. Younger age
Newly diagnosed
More profound acidosis
Attenuated rise in serum sodium
Greater hypocapnia
Increased BUN
Bicarbonate therpay for acidosis
Administrationof insulin in the first hour of therapy
High volumes of fluid given during the first 4 hours
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
66
Q

How long does the honeymoon period last in T1DM?

A

2-4 weeks

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
67
Q

What are clues to T cell disorders?

A 
2-6M
Gram+/-/Mycobacteria
CMV, EBV, Parainflu
Candidia, PCP
Sinopulmonary, FTT, Diarrhea
Omenn syndrome, Disease post BCG, VZV vaccine
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
68
Q

What are clues to B cell disorders?

A 
>6M (After MOms IGG is gone)
Encapsulated organized
Enterovirus
Giardia, cryptosporidium
Sinopulmonary, GI, Arthritis, Meningoencephalitis
Autoimmunw, lymphoma
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
69
Q

What are clues to phagiocytic disorders?

A 
Early onset
Staph, pseudonom, serratia
Candidia, aspergillus
Abscesses, mouth ulcers, Osteomye
Delayed cord separation, poor wound healing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
70
Q

What are clues to complement disorders

A

Any age
Pneumococcal, Meningococcal
Speticemia, meningitis
Autoimmune

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
71
Q

What are the 10 warning signs of PID?

A

Four or more new ear infections in 1 year
2 or mroe serious sinus infections within 1 year
2 or moremonths on antibiotics with little effect
Two or more pneumonias within 1 year
Failure of an infant to gain weight or grow normally
Recurrent deep skin or organ abscesses
Persisten thursh in the mouth or fungal infections on the skin
Need for IV antibiotics to clear infection
Two or more deep seated infections including sepsis
A family history of PID

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
72
Q

What are the clues on history to PID?

A

Autoimmunity: cytopenia, colitis, arthritis
FFT
Eczema
Delayed cord separation
Reactions to live viral vaccines
FHx: consanguinity, infantile deaths, Affected maternal uncles (Xlinked)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
73
Q

How do you assess the humoral/B cell

A

Number: Immunoglobulins, lymphocyte subsets (flow CD 19)

Vaccine response, Isohemagglutinin to blood groups

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
74
Q

How do you assess the cellular/T cell

A

Number: Lymphocyte subsets (CD 4/8)
Function: Lymphocyte proliferation, Adenosine deaminase and purine nceloside phosphorylase levels, TRECS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
75
Q

How do you assess phagocytic

A

Number: neutrophil counts
Function: NBT or NOBI
CD11 CD18 measurement of adhension markers

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
76
Q

Complement assessment

A

Number: C1 esterase inhibitor levels, specific complement levels

Function: Total hemolutic complement CH50, C1 esterase inhibitor function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
77
Q

What are the most common group of PID?

A

Humoral/B cell

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
78
Q

What are the common B cell disorders?

A
  1. X linked agammaglobulinemia
  2. Common variable immune deficiency
  3. Transient hypogammaglobulinemia of infancy
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
79
Q

What are the characteristics of XLA?

A

-Caused by mutations in Bruton Tyosine Kinase
Absent B cell s in peripheral blood
No B cells= no lymphatic tissue (Tonsils and LN)
No immunoglobulin production
Males, 6-24 months
Recurrent infections: sinopulmonary, otitis media, GI, arthritits, meningitis, sepsis
Encaulsated bacteria

No IGA,G,M
No vaccine responses

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
80
Q

What is the management of XLA?

A 
Antibiotics for infecitons
IVIG for lfie: monthly IV or weekly SC
PFTs and chest CT: bronchiectasis
Genetic confirmation of BTK mutuation
Genetic counselling
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
81
Q

What are the characteristics of CVID?

A

Recurrent infecitons, autoimmunity, malignancy
Will have lymphatic tissue
Recurrrent bacterial and sinopulmonary infections
Can have bronchiectasis
Mycoplasma, enteroviruses, Giardiasis
Autoimmunity in 20-25%
Increased incidence of LYMPHOMA AND ALL CA
Decreased IgG, vaccine response

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
82
Q

What is the management of CVID?

A

Antibiotic treatment of infecitons
IVIG for life
Monitor for autoimmunity and malignancy

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
83
Q

What are the characteristics of SCID?

A

Present at 2-6M, Die by 1 year if not treated
Mutation in gamma chain of IL2 receptor, X linked
MEDICAL EMERGENCY
Persistent, recurrent, severe infections
FTT
NO lymph nodes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
84
Q

What is the CXR finding of SCID?

A

NO THYMUS

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
85
Q

What are the lab features of SCID?

A

Lymphopenia
Severely reduced T cell numbers
Absent response to vaccines

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
86
Q

What is the management of SCID?

A 
Aggressive antimicrobial therapy
IVIG
PCP PPX
CMV negative irradiated products
Strict protective isolation
BMT
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
87
Q

What is the triad of Wiskott-Aldrich?

A
  1. Thrombocytopenia
  2. Eczema
  3. Recurrent pyogenic infections

X linked
Watery/bloody diarrhea in first months
Encapsulated organisms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
88
Q

What are the lab findings of Wiskott-Aldrich?

A
  1. Small, low numbers of plts
  2. Low IgM, high IgA,Ige
  3. Poor antibody responses to vaccines
  4. Decreased T cell functions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
89
Q

What is the management of Wiskott-Aldrich?

A

IVIG
Antibiotic PPX
BMT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
90
Q

What are the features of ataxia-telangiectasia?

A

AR, ATM Gene
Ataxia: Cerebellar, around 18 months, wheelchair bound by teenage
Telangiectasia: face, conjunctiva, ear lobes, 2-4 years
Progressive neurodegeneration
Recurrent sinopulmonary infections and bronchiectasis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
91
Q

What are the lab features of AT?

A

INcrease alpha FP
Decreased T cell
Absent IgA
Decreased T cell function

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
92
Q

What is the management of AT?

A

Confirmation by gene sequencing
Abnormal DNA repair: increased sensitivity to irradiation, try not to XR, CT
15% develop malignancy: lymphoma
Supportive, NO BMT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
93
Q

What are the features of DiGeorge?

A 
CATCH 22
Cardiac defects: Ao arch
Abnormal facial features (hooded eyelids, hypertelorism, low set ears, notched pinnae, micorgnathia, short philtrum, high arched palate)
Thymic hypoplasia
Cleft palate and midline abN
Hypocalcemia
22q11 deletion
FTT, DD, Psychiatric issues
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
94
Q

What are the features of chronic granulomatous disease?

A

Defect in NADPH oxidase: required for effective phaogocytic killing of certain pathogens
65% Xlinked, AR
Susceptible to catalase positive pathogens: S aureus, aspergillus, nodcardia, serratia, burkholderia, salmonella

Recurrent bacterial and fungal infections
Abscesses and granulomas

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
95
Q

What is the workup and management of CGD?

A

Abnormal Nuetrophil oxidative burst index or Nitroblue tetrazolium test
Aggresive antibiotics treatment for current infections
PPX: bacteria and fungal
Anti inflam
BMT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
96
Q

What are the characteristics of Hyper IgE syndrome?

A

Autosomal dominant in STAT3
Recurrent abscesses in skin, joints, lungs COLD BOILS
Eczema, Coarse facial features
Delayed shedding of teeth
Bone fractures, scoliosis, joint hyperlaxity

Rx infections, anti staph PPX

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
97
Q

What are the characteristics of leukocyte adhesion defects?

A

Deficiency in adhesion molecules: abnormal neutrophilmigration and penetration, remain inblood
Delayed separation of umbilical cord
Staph infections: dental, gingivitis, intestinal

Neutrophilia, absent surface adhesion molescules: CD11, CD18

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
98
Q

What are the characteristics of complement deficiencies?

A

Autosomal recessive
Defects in early: C1,C2,C4: rheumatic diseases, lupus, infection
Defects in late: C5-9: invasive Nerissa and pneumoncoccal infections

Antibiotic ppx and immunizations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
99
Q

What are the four components of management of PIDs?

A

Antibiotics
Vaccinations
IVIG
BMT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
100
Q

What are the characteristics of Transient HypoIG of infancy?

A

Physiological nadir at 6 months
Slow to increase, up to 6-12 years
No need to treat

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
101
Q

What are examples of type I allergic reactions?

A

Anaphylaxis
Food allergy
Allergic rhinitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
102
Q

What are examples of type II allergic reactions?

A

Autoimmune cytopenias

Goodpasteurs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
103
Q

What are examples of type III allergic reactions?

A

SLE
Serum sickness
Glomerulonephritits

ACID
1 Allergic (IgE)
2 Cytotoxic (hemolytic reaction)
3 Immune Complex (SLE, serum sickness)
4 Delayed (contact dermatitis)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
104
Q

What are examples of type IV allergic reactions?

A

Contact dermatitis

Psoarsis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
105
Q

What is the breakdown of system involvement in anaphylaxis?

A

Cutaneous 80-90%
Respiratory 60-70%
GI 50-60%
Cardio 10-30%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
106
Q

In a patient with anaphylaxis who are receiving beta blockers, what other therapy can you use?

A

Glucagon

Inotropic and chronotropic effects that are not mediated through beta receptors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
107
Q

Why is a period of observation recommended in anaphylaxis?

A

4-6 hours

Why? Biphasic reaction
Recurrence of symptoms after initial resolution
Risk: delayed epinephrine, more than dose of epi, severe symptoms

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
108
Q

What is the discharge management of anaphylaxis?

A
  1. Epinephrine autoinjector
  2. Anaphylaxis action plan
  3. Consider 3 day course of antihistamines and steroids
  4. Medical ID bracelet
  5. Referral to an allergist
  6. Avoidance of trigger if obvious
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
109
Q

What are the epipen doses?

A

> 25kg: Epipen 30 mg
10-25: 15 mg
<10 kg: epipen jr or ampule of epi

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
110
Q

What percentage of anaphylaxis has an identifiable trigger?

A

1/3

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
111
Q

What is skin prick testing?

Pros cons

A

Solutions containing proteins placed on skin, pricking allowing introduction into skin. Localized hive if sensitized
Pro: Result in 15 min, more sensitive compared than seurm specific IgE, high negative predictive value, cost effective

Cons: False +, affected by antihist and steriods, risk low of systemic reaction, not if atopic disease

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
112
Q

What are the serum specific IgE testing?

A

Eg: Rast and ImmunoCAP
-Allergen of interest bound to solid phase matrix
Patients seurm added
If IgE present against, will bind to allergen
Fluorescence is measured (anti IgG labelled and will attach to IGE)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
113
Q

What are the pros and cons of RAST (serum specific IgE) testing?

A

Pro: Not affected by antihistamines, steroids, montelukast, no risk of systemic reaction, can be performed if patient has skin disease

Cons: False + if total IgE is elevated, less sensitive than SPT, more expensive than SPT

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
114
Q

What is the gold standard for diagnosis of food allergy?

A

Oral food challenge

Gradual feeding of suspected food with careful supervision

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
115
Q

What is the management of a food allergy?

A

Avoidance of responsible food
EpiPen
Anaphylasix action plan
Medical ID bracelet

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
116
Q

How do you prevent food allergies?

A

No dietary restrictions during pregnancy or breastfeeding
Exclusive breastfeeding for the first 6 months
Hydrolyzed formula if not breastfed
DO NOT delay the introduction of any specific solid food including allergenic foods beyond 6 months
Regular ingestion of newly introduced food

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
117
Q

What are the characteristics of food protein induced procitits?

A

Exclusively BF infants 2-8 weeks
Transfer of food protein ingested by mother through milk
Cows milk protein, egg, soy, corn

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
118
Q

What is food protein induced enterocolitis syndrome?

A

1-4 weeks after introduction of food
Cows milk, soy, grain, rice, meat, egg, potato, legums
Repetitive vomting 1-3 hours after ingestion
Skin testing and RAST not helpful
Eliminate offending food

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
119
Q

What are the three type of venom reactions?

A
  1. Local reactions
  2. large local reactions
  3. Systemic reactions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
120
Q

What is immunotherapy for allergies?

A

Administration of gradually increasing quantities of allergens until a dose is reached that is effective in inducing immunologic tolerance to allergens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
121
Q

What is immunotherapy used for?

A

Venom allergy
Allergic rhinitis
Allergic asthma
Atopic dermatitis with aeroallergen sensitization

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
122
Q

What are the most likely drugs to cause anaphylaxis?

A

Antibiotics
Anticonvulsants
NSAIDS
Radiocontrast media

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
123
Q

What is pencillin allergy mediated by?

A

IgE against a major determinant

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
124
Q

What is DRESS?

A

Drug rash with eosinophilia and systemic symptoms
1-8 week onset
Rash, fever, LN, facial angioedema, hepatic dysfunction, eosinophilia
Drugs: sulfonamides, minocycline, allopurinol, anticonvulsants
Systemic steriods in some

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
125
Q

What is serum sickness?

A

Onset 1-3 weeks
Rash, fever, arthritis, renal disease
Low complement
Type III

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
126
Q

What are the signs of allergic rhinitis?

A 
Allergic shiners
Dennnie Morgan lines
Allergic salute
Horizontal crease
Allergic facies
Enlarged pale nasal tubinates
Cobblestoning in the psoterior oropharnyx
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
127
Q

Pathophysio of type I hypersensitivity reactions?

A

Immediate

IGe production against antigens with binding mast cells and release of inflammatory mediators

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
128
Q

What is the pathophys of type II reactions?

A

Antibody mediated

Antibodies against soluble antigens may form complexes which deposit in the vessels of tissues

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
129
Q

Pathophysio of type I hypersensitivity reactions?

A

Immediate

IGe production against antigens with binding mast cells and release of inflammatory mediators

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
130
Q

What is the pathophys of type II reactions?

A

Antibody mediated

Antibodies other than igE directed against cell of tissue antigens causing damage

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
131
Q

What is the pathophys of type III reactions?

A

Immune complex mediated

Antibodies against soluble antigens may form complexes which deposit in the blood vessels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
132
Q

What is the pathophys of type IV reactions?

A

T cell mediated

Reactions of T cell against self antigens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
133
Q

What is the pathophys of allergic disease?

A

IgE response
Potential allergens cause rapid expain of T helper type 2 cells that secrete cytokines
IgE crosslink, breakdown of mast cells and basophils
Leads to release of inflammatory mediators: proteases, prostaglandins, histamine and bradykinin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
134
Q

What is the significance of major and minor determinants in testing for penicillin allergies?

A

Penicillin metabolized into major and minor determinants.
Skin testing with minor determinants is important in screening for anaphylaxis.
Major determinants: accelerated and late reactions by IgE
Minor determinants: anaphylaxis.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
135
Q

What are the three types of hymenoptera stings?

A

Bees: barbed stingers, die single sting. sting only when provoked
Wasps: Do not have barbed stingers, sting multiple times. Aggressive and sting without provocation
Ants: envenomate by anchoring their madibles into the skin and pivoting. Bite aggressively if nests disturbed

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
136
Q

How common is allergic rhinitis?

A

40%

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
137
Q

What is the mechanism of allergic rhinitis?

A

Hypersensitivity reaction to specific allergens occuring in sensitized patients mediated by IgE.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
138
Q

What is the first line therapy for allergic rhinitis?

A

Intranasal steroids > 2 years old

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
139
Q

What is angioedema?

A

Transient swelling of the dermis or subQ tissue

May occur with anaphylaxis or episodes of urticaria.

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
140
Q

What is hereditary angioedema?

A

Type 1 80%
Presents with recurrent swelling episodes, recurrent attackes of abdo pain and episodes of airway obstruction
Low C1esterase inhibitor activity results in anbility to stop the completement cascase

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
141
Q

What are the two most recognized mechanisms for anaphylaxis

A
  1. Cross-linking of high affinity IgE receptors of the surgace mast cell sand basophils after binding IgE
  2. Non IgE mediated direct activation of mast cells
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
142
Q

What are the three ways to diagnose anaphylaxis?

A
  1. Acute onset inless involving skin, mucosal or both with either resp compromise or hypotension
  2. 2+ occuring rapidly after exposure to likely alelrgen: skin, rsp, hypoBP, Gi
  3. Reduced BP after exposure to known allergen for that patient
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
143
Q

What is the most common cause of anaphylaxis?

A

Food 90%

Milk, egg, soy, wheat, peanut, fish

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
144
Q

What are the routes of immunotherapy?

A

SC: AR, allergic asthma, wasps
SL: aeroallergens

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
145
Q

What are the second line agents for anaphylaxis?

A

H1 anatagonists: cetirizine (less sedating)
H2 anatagonists
Steroids
Ventolin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
146
Q

What is the most common chronic relapsing skin dsiease in childhood?

A

Atopic dermatitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
147
Q

What are the hallmark features of atopic dermatitis?

A

Severely dry skin
Itchy: scratching leads to inflammation
Lichnification in flexural folds

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
148
Q

How do you diagnose atopic dermatitis>

A

Eczematous dermatitis
Chronic and relapsing course
Pruritis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
149
Q

What are the treatment possibilities for atopic dermatitis?

A 
Cutaneous hydration: lukewarm baths then emollient
Topical steriods
Topical calcineurin inhibits (tacrolimus)
Antihistamines
Systemic steriods
Cyclosporine
Phototherapy
Avoidance of irritants and food triggers
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
150
Q

What is serum sickness?

A

Systemic immune-complex mediated hypersensitivity vasculitis

Type III hypersensitvity from Ab-Ag complexes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
151
Q

How is measuring isohemagglutinins helpful for PID wu?

A

One of the most useful tests for B cell function
Determines the presence and titer of isohemagglutinins
Measures mostly IgM, may be absent in the first 2 years of life and are absent if patient is blood type AB

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
152
Q

How is a candida skin test helpful for PID wu?

A

If test is positive (induration >10mm at 48 hour) all T cell defects are excluded

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
153
Q

What are the types of immunity?

A

Innate: early line of defense, mediated by cells that are always present
Adaptive: stimulated by microbes, fine specificity for substances and responds more effectively against each successive exposure to a microbe

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
154
Q

What are the types of adaptive immunity?

A

Humoral: AB that neutralize and eradicate exracellular microbs and toxins
Cell mediated: T cell seradicate intracellular microbes

155
Q

What are the main functions of B cells?

A

Express membrane Ab that recognize antigens and effector B cells that secrete AB to neutralize and eliminate Ag

156
Q

What are the main functions of T cells?

A

Recognize peptide fragments of protei antigens displayed. T cells activate phagocytes and B cells. Cytotic T cells kill infected cells harbouring microbes in their cytoplasm

157
Q

What are the main components of the innate immune system?

A

Epithetial barrier
Phagocytes
lymphovytes
Complement

158
Q

What is the process of migration of neutrophils?

A

microbe breaches endothelium, enters subendothial tissue
Resident macrophages recognizes micro and produces cytokines
TNS and IL1 act on endothelium of small vessels at the site of infection
Endothelial cells display adhesion molecules E and P
Circulating neutrophils and monocytes express carbs that bind weakly to selectins
Blood flow disrupts and bonds reform downsteam (ROLLING)
Leks express another adhesion molecules
Increased affinity for inegrins for ligands on the epithelium
Firm binding arrests rolling leukocytes
Cytoskeleton reorganized and spreads out on the endothelial surface

159
Q

What are Antigen Presenting Cells (APC)?

A

Dendritic, macrophages, B cells
Capure antigens and display them for recognition
Produce signal for co-stimulation to ensure immune responses directed against microbes

160
Q

What is X linked agammaglobulinemia

A

Prodfound defect in B cell development resulting in severe hypogam in absence of circulating B cells

161
Q

What are the clinical characteristics of XLA?

A

Small to absent tonsils, no palpable LN
Boys remain well in first 6-9M because of maternal AB
Then extracellular pyogenic organisms
Sinusitis, OM, Pneumonia, sepsis, meningitis

162
Q

What is the most common PID?

A

Selective IgA deficiency

163
Q

What is Wiskott Aldrich Syndrome?

A

X linked recessive syndrome
Atopic dermatitis, thrombocytopenia, ID
Present infancy with rash, symptoms of low plts and inections
Survival beyond teens is rare: die or infections, bleeding

164
Q

What are the signs of congenital hypothyroidism?

A

Lethargy, poor feeding, constipation, poor weight gain, cold extremities, hoarse cry
Hypotonia, slow reflexes, jaundice, mottling, distended abdo, acryocyanosis, coarse features, large fontanelle

165
Q

What are the risks of delayed treatment for congenital hypothyroidism?

A

Outcome directly related to time to treatment

IQ as outcome

166
Q

What is the most common cause of acquired hypothyroidism in childhood?

A

Hashimoto thyroiditis

Chronic lymphocytic thyroiditis

167
Q

What are the possible treatments for Graves?

A

Antithyroid medication
Radioactive ablation
Subtotal thyroidectomy

168
Q

What are the mechanisms of action for Graves meds?

A

Thioamide deriatives: propylthiouracil and methimazole
-Block synthesis of thyroid hormone
Propranolol: beta adrenergic effects
Steriods

169
Q

How can you tell the difference between T1 and T2 DM?

A 
Obesity (T2)
Age of onset (T2 >puberty)
Family History
Acanthosis nigricans
Hyperandrogenism
Fasting insulin and C peptide (Low in T1, Hgh in T2)
Islet cell antibodies (+ in T1)
170
Q

What is the triad for osteogenesis imperfecta?

A

fragile bones, blue sclerae, and early deafness

171
Q

What is the pathogenesis of Bruton’s agammaglobulinemia?

  • pattern of inheritance?
  • at risk for which organisms?
  • clinical features?
  • diagnosis?
  • treatment? (3)
A

Pathogenesis: defective B cell production due to enzyme deficiency (tyrosine kinase)–> NO B CELLS = no antibodies (agammaglobulinemia)

  • X-linked = only affects males
  • at risk for: staph aureus, strep pneumo, H flu, pseudomonas, giardia, enterovirus

Clinical features:

  1. No lymphoid tissue! = small or absent tonsils & no palpable lymph nodes (that’s because you need B cells to have lymph tissue)
  2. Pyogenic bacterial infections of the resp tract, skin and joints (sinusitis, pneumonia, meningitis, etc.)
  3. Enterovirus infections are severe and can be fatal
  4. Risk of life threatening pseudomonas infections

Diagnosis:

  1. Immunoglobulin levels: will see low levels or completely absent
  2. Bone marrow with absence of B cells on flow cytometry

Treatment:

  1. IVIG replacement monthly
  2. Avoidance of live virus vaccines
  3. Follow PFTs and CT chests since patients are prone to develop bronchiectasis
172
Q

What are 2 potential complications of long-term IVIG treatment?

A
  1. Chronic lung disease (need PFTs q1yr)

2. Exposure to bloodborne pathogens

173
Q

What is the diagnosis and treatment of IgA deficiency?

-minimum age at which IgA deficiency can be diagnosed?

A

Diagnosis: serum IgA levels

174
Q

What 5 organisms are most common causes of infection for patients with antibody-mediated (B cell) immunodeficiency?

A
  1. Staph aureus
  2. Strep pneumo
  3. H. flu
  4. Pseudomonas
  5. Giardia
175
Q 
What is the pathogenesis of IgG subclass deficiency?
-at risk for what type of infections?
A

Occurs when the level of abs in one or more IgG subclasses (IgG1-4) is selectively decreased while total IgG levels are normal
-recurrent upper resp tract infections

176
Q

What is the pathogenesis of common variable immunodeficiency (CVID)?

  • clinical features? (3)
  • pattern of inheritance?
  • treatment? (3)
A

Hypogammaglobulinemia with phenotypically NORMAL B cells that fail to mature appropriately into antibody-producing plasma cells
-no clear pattern of inheritance

Clinical features:

  1. recurrent bacterial infections (sinopulmonary, mycoplasma) and viral infections (enteroviruses) and parasitic infections (giardia)
  2. Autoimmune manifestations: inflammatory bowel disease like picture: diarrhea, weight loss, malabsorption, cytopenias
  3. Increased risk of malignancy: lymphoma and other malignancies

Treatment:

  1. IVIG replacement
  2. May require immunosuppressive treatment for rheumatologic disorders
  3. Monitor for malignancy!!
177
Q

What is the pathogenesis of Hyper IgM syndrome?

-inheritance pattern of most common form of Hyper IgM?

A

Failure of immunoglobulin isotype switching from IgM to IgG, IgA or IgE.

  • most commonly X-linked: defect in CD40 ligand gene thus, the T cell with CD40 ligand cannot bind to the B cell with CD40 receptor to trigger immunoglobulin isotype switching
  • **so in a way, you have both T cell and B cell dysfunction in X-linked Hyper IgM syndrome
  • thus patients have normal or high levels of IgM with low or absent levels of the other antibodies
178
Q

What infections are patients with Hyper IgM syndrome at risk for?
-treatment for Hyper IgM syndrome?

A
  1. Sinopulmonary infections
  2. Opportunistic infections with PCP, cryptosporidium

Treatment: IVIG replacement

179
Q

Which immunizations do not produce an antibody response in patients with IgG subclass deficiency?

A

Polysaccharide vaccines!

180
Q

What are the infection susceptibilities with the following immunodeficiencies? What is your test for diagnosis?

  • humoral (antibody mediated)
  • cell mediated
  • phagocytes
  • complement
A
  1. Humoral:
    - deficiency in antibodies = infections start after 6 months when maternal antibodies start to wane
    - infections with encapsulated bacteria
    - test: immunoglobulin levels, immune titres (antibody response to vaccines)
  2. Cell mediated: difficulty with bacteria
    - fungal infections (especially aspergillus and candida)
    - unusually severe viral infections
    - pneumocystis, mycobacteria
    - test: lymphocyte count, T cell subsets (CD4, CD8)
  3. Phagocytes:
    - CATALASE POSITIVE organisms (staph, nocardia, serratia, aspergillus, salmonella)
    - abscesses, skin infection
    - poor wound healing
    - test: CBC + diff, looking at WBC differential
  4. Complement:
    - neisseria meningitidis and neisseria gonorrhea
    - sepsis with encapsulated bacteria
    - test: CH50 (total hemolytic component)
181
Q

How do you differentiate between Bruton’s agammaglobulinemia and CVID?

A

Given that they are both disorders of absent antibody production, will have similar infection susceptibilities. Thus, can differentiate by:

  1. Agammaglobulinemia: see only in males (X-linked), NO lymphoid tissue, NO B cells on bone marrow, see more enterovirus infection than with CVID
  2. CVID: see in both males and females, normal lymphoid tissue, normal B cells on bone marrow
182
Q

What infections are people with T cell immunodeficiencies at risk for? (3)

A
  1. Viral
  2. Fungal
  3. Intracellular infections

**disorders of T cell function also often result in B cell antibody production dysfunction because B cells need T cells to function properly = this is combined immunodeficiency

183
Q

What conditions are patients with CVID at increased risk for? (3)

A
  1. Lymphoma
  2. Autoimmune disorders
  3. Noncaseating granulomas of spleen, liver, lungs and skin
184
Q

What is the only isolated congenital T–cell immunodeficiency?

A

DiGeorge syndrome = caused by thymic hypoplasia (thymus makes T cells)

185
Q

What are the clinical manifestations of DiGeorge syndrome?

-diagnosis?

A

CATCH-22

  • Cardiac defects: TOF most common
  • Abnormal facies: low set ears, hypertelorism, hypoplastic mandible, bowing of upper lip
  • Thymic hypoplasia & T cell immunodeficiency
  • Cleft palate
  • Hypoparathyroidism with subsequent hypocalcemia

Diagnosis: genetic testing (FISH) for 22q11 deletion

186
Q

Which infections are patients with IgA deficiency at most risk, in general terms? (3)

A

IgA protects mucosal surfaces THUS are most susceptible to bacterial and viral infections involving mucosal surfaces such as:

  1. Respiratory tract
  2. Urinary tract
  3. GI tract
187
Q

What are lab results seen with combined immunodeficiency disorders? (3)

A
  1. Low lymphocyte count
  2. Low immunoglobulin levels
  3. Abnormal response to delayed type hypersensitivity testing (ie. TST)

***This reflects both B and T cell dysfunction since B cells depend on T cells to present antigens for antibody production

188
Q

What is SCID?

  • inheritance patterns?
  • mean age of presentation?
A

Severe combined immunodeficiency = severe T cell dysfunction and resultant B cell dysfunction

  • interitance: autosomal recessive (usually ADA = adenosine deaminase deficiency) and X-linked forms
  • present by 6 months of age with SEVERE immunodeficiency
  • most children die of infection during the first 2 years of life without intervention
189
Q

What are clinical manifestations of SCID? (7)

A
  1. FTT
  2. Chronic diarrhea
  3. Chronic candidiasis
  4. Severe bacterial infection within 1st month of life
  5. Infection with opportunistic organisms: PCP, cryptosporidium
  6. Eczema (possibly from GVHD from engraftment of maternal lymphocytes)
  7. Absent thymus/lymph nodes/tonsils
190
Q

What condition are patients with SCID at increased risk for developing after BMT or from blood products?

A

Graft versus host disease: from engrafted maternal T cells or from blood transfusions
-THUS, should always be given irradiated blood products

191
Q

What is the treatment for SCID?

A
  1. Bone marrow transplant is curative
    - until BMT can occur, need to give IVIG replacement and PCP prophylaxis and avoid transfusions, no live vaccines

***Enzyme replacement therapy for patients with ADA deficiency can work BUT is not as good as BMT

192
Q

How do you diagnose Ataxia Telangiectasia?

-findings on bloodwork

A
  1. Bloodwork:
    - normal IgM and IgG levels but DECREASED IgA and IgG2
    - increased serum AFP****
  2. Definitive diagnosis with gene testing of ATM gene (ataxia-telangiectasia mutated) = DNA repair enzyme
193
Q

A patient receiving a blood transfusion post-trauma develops anaphylaxis. You have double-checked the blood product and it is correctly cross-matched to the patient. What diagnosis should you rule out?

A

Undiagnosed IgA deficiency = trace amounts of IgA in a blood product may trigger anaphylaxis in a patient who does not have IgA!

194
Q

Which organisms are considered “catalase positive”? (5 groups)

A
  1. Staph aureus
  2. Gram negative enteric bacteria: E coli, klebsiella, enterobacter, serratia, salmonella
  3. Fungi: aspergillus, candida
  4. Nocardia
  5. Burkholderia
195
Q

What are clinical features of chronic granulomatous disease? (3)

  • pathogenesis?
  • inheritance pattern?
  • Diagnosis (2 tests)?
  • treatment?
A

CGD:

  1. Recurrent abscesses in lymph nodes, skin, liver, spleen and lungs
  2. FTT
  3. Granulomas in resp/GI/GU tracts
    - Pathogenesis: neutrophils lack oxidative burst that is needed for destruction of catalase positive bacteria and fungi
    - inheritance pattern: 2/3s are X linked, 1/3 are AR
    - diagnosis: nitroblue tetrazolium test or DHR-123 (flow cytometry test)
    - treatment: lifelong prophylaxis with septra (because of high risk of staph aureus infections), gamma interferon in severe cases, bone marrow transplant
196
Q

What are the clinical features of Hyper IgE recurrent infection syndrome?

  • inheritance pattern?
  • diagnosis?
  • treatment?
A

Clinical features (due to abnormal neutrophil migration):

  1. Coarse facial features
  2. Eczema
  3. Recurrent “cold boils” = no pain, heat or redness (most caused by staph aureus) and resp infections
    - Inheritance pattern: AD
    - Diagnosis: IgE > 20000 (not diagnostic)
    - Treatment: antistaph antimicrobial prophylaxis (Septra)
197
Q

What are the clinical features of Chediak-Higashi syndrome?

  • inheritance pattern?
  • diagnosis?
  • treatment?
A

Clinical features (due to impaired natural kill cell function and chemotaxis):

  1. Oculocutaneous albinism
  2. Recurrent skin and resp tract infections
  3. Almost all develop proliferative lymphoma like illness (typically fatal)
    - inheritance: AR
    - diagnosis: giant granules seen in neutrophils, eosinophils, granulocytes
    - treatment: BMT
198
Q

Which immunodeficiency is associated with delayed seperation of umbilical stump?

A

Leukocyte adhesion deficiency (type 1)

199
Q

What are clinical features of complement deficiencies? (3)

  • diagnosis?
  • inheritance pattern?
A
  1. Increased infection (pyogenic bacterial infections, encapsulated bacteria)
  2. Angioedema
  3. Autoimmune disorders (ie. glomerulonephritis
    - diagnosis: CH50 assay
    - inheritance: AR
200
Q

What is the most common immunodeficiency syndrome?

A

IgA deficiency

201
Q

Which immunodeficiency results in increased risk of meningococcus infections?

A

Complement deficiency (late complement deficiency C5-C9)

202
Q 
What is the pathogenesis of IgG subclass deficiency?
-at risk for what type of infections?
A

Occurs when the level of abs in one or more IgG subclasses (IgG1-4) is selectively decreased while total IgG levels are normal
-recurrent upper resp tract infections

203
Q

An infant presents to you with steatorrhea, pancytopenia, FTT and recurrent infections. What is your diagnosis?

A

Shwachman-Diamond syndrome

204
Q

What is a RAST test?

-comparison to skin testing?

A

RAST = serum test that quantifies IgE level for a given antigen

-compared to skin testing, RAST is less sensitive but is safer and not influenced by skin disease or medications (antihistamines)

205
Q

What is cold urticaria?

-diagnosis?

A

Total body exposure to cold water results in extensive vasodilation, hypotension and death

  • diagnosis: place an ice cube on the patient’s body x 10-15 minutes. If hives develop with rewarming the chilled area, diagnosis made.
  • warn patients NOT to swim or submerge themselves in cold water
206
Q

What is an anaphylactoid reaction?

  • common triggers?
  • treatment?
A

Non-IgE mediated; instead they involve direct degranulation of mast cells

  • common triggers: IV contrast material, opioids
  • treatment: similar to anaphylaxis treatment
207
Q

What is serum sickness?

  • clinical manifestations?
  • diagnosis?
  • treatment?
A

Immune complex-mediated disease that begins 1-3 wks after an allergic exposure (ie. medication)

  • antigen-antibody immune complexes deposit in small vessels and cause vasculitis
  • clinical manifestations:
    1. Appear unwell
    2. Fever
    3. Rash
    4. Arthralgias/myalgias
    5. Abdominal cramping
    6. Diarrhea
  • diagnosis: depressed C3 and C4 levels, peripheral blood smear with increased number of plasma cells, skin biopsy of lesion with immune complex formation
  • treatment: mild = NSAIDs/antihistamines. Severe = steroids x 7-10 d, plasmapheresis
208
Q

A patient presents to you in anaphylaxis after 1st time eating peanut butter. Mom asks you how this is possible. What is your explanation?

A

In order to mount an allergic reaction, your body has to be previously exposed to the allergen in order for your body to have mounted antibodies to it (IgE).
-if a child has an allergic reaction the “first” time they’ve eaten something, they’ve definitely been exposed to it before often without parents knowing (ie. hidden in other foods) OR through maternal breast milk

209
Q

What is immunotherapy?

-indication?

A

Gradual introduction of increasing amounts of allergen to decrease sensitization

  • consider in patients with insect venom sensitivity who have had anaphylaxis due to insect bite
  • NOT effective for food allergies
210
Q

What is the atopic march?

A

Typical sequence of IgE antibody development and disease evolution in allergic patients
-Food allergies (early infancy) –> eczema (late infancy) –> asthma (early childhood) –> allergic rhinitis (late childhood)

211
Q

In which immunodeficiency do you see bony abnormalities?

A

SCID with ADA deficiency = autosomal recessive
-50% of children have bony abnormalities in ADA-deficient SCID

Hyper IgE

212
Q

What are clinical features of Heiner’s syndrome?

A
  1. Pulmonary hemosiderosis (due to recurrent bleeding into the lungs)
  2. GI bleeding
  3. Iron deficiency anemia
  4. FTT
    * **results from severe CMPA
213
Q

Patients with spina bifida are at increased risk for anaphylaxis on exposure to which agent?

A

Latex

214
Q

What is the best screening test for T-cell defect?

A

Mitogen and antigen stimulation test

candida skin test is an old test

215
Q

Which immunologic conditions can cause elevated IgE levels? (4)

A
  1. DiGeorge
  2. Hyper IgE
  3. Omenn (SCID)
  4. Wiscott-Aldrich
216
Q

What are the indications for IVIG? (11)

A
  1. Humoral or combined immunodeficiency with low or absent levels of IgG
  2. Kawasaki
  3. B cell chronic leukemia
  4. HIV
  5. ITP
  6. GBS
  7. Chronic inflammatory demyelinating polyradiculopathy
  8. Graves Ophthalmopathy
  9. CMV-induced pneumonia in solid organ transplants
  10. TEN
  11. Prophylaxis of infection post BMT
217
Q

A male patient presents with a liver abscess. What condition should you exclude?

A

CGD

218
Q

A child has received IVIG for treatment of Kawasaki. How long do you have to wait before giving immunizations to ensure effective immune response?

  • high dose?
  • low dose?
A 
11 mo (if high dose IVIG)
8 mo (if low dose IVIG)
219
Q

What is the classic triad of ataxia-telangiectasia?

-treatment?

A
  1. Progressive ataxia
  2. B and T cell deficiency
  3. Telangiectasia not present at birth
    - treatment: supportive since bone marrow transplant is not possible (not tolerated well)
220
Q

What is the inheritance pattern of hereditary angioedema?

  • what is the deficiency?
  • clinical features?
A

Autosomal dominant

  • C1 esterase deficiency
  • complement system is activated and cannot deactivate itself
  • clinical features:
    1. Angioedema (non-pitting): self-resolves within 3 days
    2. No pruritis/erythema/pain
    3. Abdo pain = can be secondary to angioedema of bowel
    4. Hoarseness and stridor due to airway edema
221
Q

What are the triggers for angioedema episodes in hereitary angioedema? (5)

A
  1. Medications: OCP
  2. Pregnancy
  3. Stress
  4. Infection
  5. Menstruation

Aka being a lady

222
Q

What is the treatment of hereditary angioedema?

A
  1. Concentrate of C1 esterase inhibitor

2. Danazol: androgen

223
Q

What is the treatment for chronic urticaria?

A
  • 2nd generation antihistamiens
  • Can be increased to 4 fold dosing
  • Can add montelukast, cyclosporin, omalizumab (>12y)
  • Short course steroids for flare (max 10 days) but has rebound
224
Q

A patient who is post-cardiac transplant and is on immunosuppressive therapy develops fever, weight loss, fatigue and an enlarging lymph node. What is the most likely diagnosis?

  • what is the most likely cause?
  • treatment?
A

Post-transplant lymphoproliferative disease = occurs as result of immunosuppression in patients who have undergone solid organ or allogeneic stem cell transplantation

  • 90-95% are associated with EBV proliferation in B cells due to suppressed T cells by immunosuppressants
  • this is a MALIGNANT condition! (20% of all patients)
  • treatment: reduction of immunosuppression, rituximab, chemotherapy, and radiation therapy
225
Q

In the following cases, list what you would expect to see for serum IgG, IgA, IgM, T-cell function and parathyroid function?

  • 5 yo boy, who after 3 months of age, developed recurrent OM, pneumonia, diarrhea, sinusitis, often with simultaneous infections at 2 or more disparate sites
  • a distinctive appearing 8 mo old boy with interrupted aortic arch, hypocalcemia, cleft palate
  • 1 yo boy with severe eczema, recurrent middle ear infections, lymphopenia, thrombocytopenia
  • 4 mo with FTT, chronic diarrhea, variety of rashes, recurrent serious bacterial, fungal, viral infections
A
  • 5 yo boy: hypogammaglobulinemia: low IgG, IgA, IgM, normal T cell function, normal parathyroid function
  • 8 mo boy: DiGeorge syndrome = normal immunoglobulins, decreased T cell function, decreased parathyroid function
  • 1 yo boy: Wiskott Aldrich = Normal IgG, High IgA, Low IgM, decreased T cell function, normal parathyroid function

4 mo: SCID = low IgG/IgA/IgM, decreased T cell function, normal parathyroid function

226
Q

What are the levels of immunoglobulins seen in Wiskott-Aldrich syndrome? (IgM, IgA, IgE)

A 
high IgE
variable IgA (usually high)
227
Q

What is the most common type of primary immunodeficiency?

A

By far: humoral deficiencies (65%)

-then combined (15%), then phagocytic (10%), then complement and cellular (5% each)

228
Q

What are the 10 warning signs of primary immunodeficiency?

A
  1. 4 or more new ear infections within 1 year
  2. Two or more serious sinus infections within 1 year
  3. Two or more months on abx with little effect
  4. Two or more pneumonias within 1 year
  5. FTT
  6. Recurrent deep skin or organ abscesses
  7. Persistent thrush in mouth or fungal infection on skin
  8. Need for IV abx to clear infxns
  9. Two or more deep seated infections including septicemia
  10. Family history of immunodeficiency
229
Q

What are tests to order for suspected humoral deficiency?

  • cellular deficiency?
  • phagocytic assessment?
  • complement assessment?
A
  • Humoral deficiency:
    1. Immunoglobulins
    2. Titres to vaccines (usually will show no response to prior vaccines)
  • Cellular deficiency:
    1. CBC to look at lymphocytes
    2. Intradermal skin testing with candida = will see no urticaria
    3. Thymic biopsy
  • Phagocytic assessment:
    1. Nitroblue tetrazolium
    2. Neutrophil oxidative burse index
  • Complement assessment:
    1. CH50
    2. C1 esterase inhibitor levels
230
Q

An 11 mo female has recurrent viral infections following cardiac surgery. She has FTT and abnormal facial features. CD4+ t cells are 800 cells/ml (normal is >1500). IgG is slightly low. What is your move appropriate immunological management?

a. Delay live vaccines until T cells are evaluted
b. immunoglobulin replacement therapy
c. prophylactic abx
d. bmt

A

Answer: A
This is DiGeorge!
-ONLY give .live viral vaccines when immune competence has been demonstrated! ie. when T cells are evaluated and found to be at normal levels (normal = >1500)

231
Q

What are the clinical features of autoimmune lymphoproliferative syndrome?
-management?

A

ALPS = autoimmune cytopenias, lymphoproliferation in spleen, lymph nodes,

  • see elevated % of T cells not expressing CD4 or CD8
  • increased risk of malignancy
  • management: immune suppression
232
Q

What are the clinical features of IPEX?

-treatment?

A
  • immune dysregulation, poly-endocrinopathy, enteropathy, X-linked disorder! (IPEX)
  • see severe colitis, cytopenias, polyendocrinopathy (usually neonatal insulin dependent diabetes), seen in males
  • treatment: immunosuppression and BMT
233
Q

A 1 yo male has persistent bloody diarrhea, eczema and insulin dependent diabetes mellitus. Normal CBC, IgA, IgG, IgM, elevated IgE. Normal CD4+, T cell and CD8+ T cell numbers and function. What is your diagnosis?

A

IPEX! Immune dysregulation, polyendocrinopathy, enteropathy, x linked

234
Q

What are the clinical features of McCune-Albright Syndrome?

A

BONES AND ENDOCRINE:

  1. Polyostic fibrous dysplasia
  2. Cafe au lait spots (jagged edge “Coast of Maine” appearance)
  3. Hyperthyroidism
  4. Precocious puberty
235
Q

What are the 3 Es of Diencephalic syndrome?

A
  1. Emesis
  2. Emaciation
  3. Euphoria

Results from hypothalamic tumor
Body is in catabolic state
Child will want to eat a lot

236
Q

What hormones influence growth? (6)

A
  1. Growth hormone
  2. Insulin
  3. Insulin Growth Factor -1
  4. Cortisol
  5. TSH
  6. Androgens/estrogen
237
Q

Which hormone controls prenatal growth? Postnatal growth?

A

Pre-natal growth: insulin

Postnatal growth: GH

238
Q

What is the most accurate way of predicting adult height? What is the least accurate way?

A

Most accurate - bone age

Least accurate - mid parental height

239
Q

3 causes of delayed bone age:

A
  1. Constitutional delay
  2. Chronic disease
  3. Endocrine disease
240
Q

What is the most common cause of endocrine-related growth failure?

A

Primary hypothyroidism (causes growth arrest)

241
Q

What is the most common cause of hypoglycemia in patients over 18 months old?

A

Ketotic hypoglycemia: substrate (glucose) deficiency

242
Q

What is the management of a newborn found to have increased TSH and decreased thyroid hormone (T4) on newborn screening and confirmed again on bloodwork?

A

IMMEDIATE initiation of thyroid hormone replacement (levothyroxine)
-delay in therapy greater than 2 weeks of age can result in cognitive impairment

243
Q

What are the Tanner/sexual maturity rating stages in girls?

  • pubic hair
  • breasts
A

SMR stages:

  1. Preadolescent
  2. Sparse pubic hair, small mound of breast and papilla
  3. Darker, increased pubic hair; enlarged breast and areola
  4. Coarse, abundant pubic hair; areola and papilla form double mound
  5. Adult feminine triangle, spread to medial surface of thighs; mature breasts, nipple projects
244
Q

At what Tanner/SMR stage does menstruation occur?

A

30% in stage 3, 90% by stage 4

245
Q

At what Tanner/SMR stage does axillary hair production occur for:

  • boys
  • girls
A

Boys: stage 4
Girls: stage 3

**Remember that girls mature more quickly than boys!

246
Q

What are the Tanner/sexual maturity rating stages in boys?

  • pubic hair
  • penis
  • testes
A
  1. No pubic hair, preadolescent penis and testes
  2. Sparse pubic hair; minimal change in penis size, enlarged scrotum
  3. Darker pubic hair, lengthening of penis, testes grow larger
  4. Coarse, abundant pubic hair; glans and breadth of penis increase, increased size and darkening of scrotum
  5. Adult distribution of pubic hair with spread to medial surface of thighs, adult size penis and testes
247
Q

What is the cycle of menses?

  • follicular phase
  • luteal phase
A
  1. Follicular phase: begins with onset of menses –> results in mid cycle LH surge which induces ovulation from the follicle. Empty follicle then forms the corpus luteum initiating the luteal phase
  2. Luteal phase: progesterone and estradiol are secreted from the corpus luteum maintaining the endometrial layer of the uterus. If pregnancy does not occur and there is no HCG to maintain the corpus luteum, it dies which results in withdrawal of progesterone and thus endometrium sloughs, giving you a period
248
Q

What are the stages of puberty in females?

-what age does puberty start?

A

Onset of puberty: 8-13 yo

  1. Thelarche: onset of breast development (precedes pubarche by 6-12 mo)
  2. Adrenarche –> Pubarche: onset of adrenal androgen production which leads to onset of sexual hair growth
  3. Menarche: follows thelarche by 2-3 years

Remember boobs, pubes, grow, flow

**Growth spurt starts with early puberty and occurs over 2-3 years with peak height velocity achieved about 1 year before menarche

249
Q

Growth spurt is completed by what age in females?

A

99% of growth is complete by 15 yo

250
Q

What are the stages of puberty in males?

-what age does puberty start?

A

Avg age of onset: 9-14 yo

  1. Testicular enlargement: 1 yr before pubarche
  2. Adrenarche/pubarche: from adrenocortical androgen production and gonadal activity
  3. Pubertal growth spurt: occurs 2 years later in boys than girls and occurs during SMR pubic hair stages 3 and 4
  4. Facial hair/voice change during SMR stage 4
251
Q

Growth spurt is completed by what age in males?

A

99% of growth is complete by 17 yo

252
Q

What does the adrenal medulla secrete?

What does the adrenal cortex secrete?

  • glomerulosa
  • fasciculata
  • reticularis
A

Adrenal medulla:
-catecholamines

Adrenal cortex:

  • zona glomerulosa: mineralocorticoids aka aldosterone (think glomerulus in kidney)
  • zona fasciculata: glucocorticoids
  • zona reticularis: sex hormones + small amt glucocorticoids (“I had sex with reticularis”)
253
Q

After the onset of menarche, how much more will girls typically grow?

A

7 cm after menarche

-but need to get bone age xray to know for sure

254
Q

What are the effects of cortisol?

  • metabolic
  • CVS
  • growth
  • immune
  • skin/bone/calcium
  • CNS
A
  • Metabolic: increases serum glucose by increasing hepatic gluconeogenesis and glycolysis
  • CVS: positive inotropic effect on the heart
  • Growth: inhibit linear growth and skeletal maturation by decreasing GH and IGF1
  • Immune: decreases inflammation and immune response
  • Skin/bone/calcium: inhibits fibroblasts leading to poor wound healing, decreases serum Ca and decreases osteoblastic activity –> osteoporosis
  • CNS: crosses BBB and has direct effects on brain metabolism –> stimulates appetite, insomnia, irritability, emotional lability
255
Q

What are the 3 urine catecholamines you test for in cases of possible adrenal medulla tumors?

A
  1. VMA
  2. Metanephrine
  3. Normetanephrine
256
Q

What are the steps of sex differentiation in utero?

A
  1. If there is a Y chromosome, then the bipotential gonads can differentiate into testes between 6-8 wks.
  2. The testes produce testosterone (Leydig cells) and anti-Mullerian hormone (Sertoli cells) –> testerone directs formation of the internal male reproductive organs from Wolffian ducts and AMH suppresses development of the Mullerian ducts (ie. preventing female internal reproductive organ formation)
  3. At 8-12 wks, the testosterone made by testes is changed to DHT (by 5 alpha reductase). DHT causes formation of male external genitalia. If there is no DHT, then female external genitalia develops.

**In infants with CAH, there is an excess of DHT due to build up of intermediate metabolites and thus female babies can have virilization (formation of male external genitalia) while still having normal female internal reproductive organs

257
Q

What is the most common cause of congenital adrenal hyperplasia?

A

21-hydroxylase deficiency (90% of cases)

-two types: classic (severe form, 75% have salt wasting) and non-classic (milder)

258
Q

In non-classic CAH, what are most common presenting features (2)?

A

Androgen excess manifests later in life as:

  1. Premature adrenarche
  2. Advanced bone age
  • *genital ambiguity is not present at birth
  • no salt-wasting (mineralocorticoid deficiency)
259
Q

What is the differential diagnosis for short stature with:

  • normal growth velocity (aka following growth curve) (3)
  • abnormal growth velocity (aka droppping off growth curve)? (5)
A

Normal growth velocity:

1. Constitutional growth delay (bone age

260
Q

What is the classic triad of septo-optic dysplasia?

-diagnostic criteria?

A

Triad:

  1. Optic nerve hypoplasia (manifests as nystagmus)
  2. Pituitary hormone abnormalities: growth failure, hypothyroidism, adrenal insufficiency, diabetes insipidus (varying degrees)
  3. Midline brain defects: agenesis of septum pellucidum and/or corpus callosum
    - need 2/3 of features for diagnosis (this is up for debate)
261
Q

What are the two common presenting symptoms of septo-optic dysplasia in neonates?

A
  1. Hypoglycemia

2. Seizures secondary to underlying structural brain abnormalities

262
Q

What investigations should be ordered in a suspected case of septo-optic dysplasia?

A
  1. Brain MRI to rule out midline brain abnormalities
  2. Ophtho consult
  3. Pituitary function: TSH, cortisol (random in a neonate is fine), growth hormone, IGF-1
    * **when child is older, consider LH and FSH levels to monitor for delayed puberty
263
Q

What is the best way to monitor effectiveness of thyroid replacement in autoimmune thyroiditis?

A

Monitor TSH

-autoimmune thyroiditis: lymphocytic infiltration of thyroid gland

264
Q

What is the most common form of inheritance of primary nephrogenic DI?

A

X-linked inheritance

  • more common in males (90%)
  • mutation in AVPR2 gene
265
Q

What is the most common cause of thyroid disease in children?
-what is the most common antibodies seen in this condition (3 in total)?

A

Hashimoto’s aka lymphocytic thyroiditis aka autoimmune thyroiditis

  • MOST COMMON cause of thyroid disease in children
  • T cell lymphocytes infiltrating thyroid gland
  • hyperplasia first (can get hyperthyroidism) and then follicular cells die (hypothyroidism)
  • anti-thyroperoxidase antibodies most common (90%); can also have anti-thyroglobulin antibodies (10%) and anti-thyroid receptor antibodies
266
Q

What is the treatment for Hashimoto’s thyroiditis?

A
  • If hypothyroid: levothyroxine

- If euthyroid: monitor with no treatment

267
Q

What are the indications for growth hormone (7)?

A
  1. Turner’s syndrome
  2. Idiopathic short stature
  3. growth hormone deficiency
  4. Chronic renal failure
  5. Prader Willi
  6. SGA with failure of catchup growth
  7. Noonan
268
Q

What are the possible side effects of growth hormone (4)?

think what obese people are at risk of getting

A
  1. SCFE
  2. Pseudotumor cerebri
  3. Gynecomastia
  4. Worsening scoliosis
269
Q

Is precocious puberty more common in boys or girls?

-what is the most common etiology in this group?

A

Girls!

-most common etiology is idiopathic

270
Q

What is the differential diagnosis for virilized female baby?

A
  1. 3-B-hydroxysteroid-dehydrogenase deficiency
  2. CAH (21 hydroxylase deficiency
  3. Maternal androgen exposure (maternal adrenal tumor)
271
Q

What is the differential diagnosis for an undervirilized male?

A
  1. Defect in androgen synthesis (3-B-hydroxysteroid-dehydrogenase or 5-alpha reductase deficiency)
  2. Androgen insensitivity syndromes (receptors do not respond to testosterone)
  3. Syndromes with defect in testicular malformation
    - Deny-Drash: nephropathy, bilateral Wilm’s and ambiguous genitalia
    - WAGR
272
Q

What are the clinical features of hypoparathyroidism (5)?

A
  1. Hypocalcemia
  2. Delayed teeth eruption/strength
  3. Scaly skin
  4. ***Mucocutaneous candidiasis
  5. Cataracts
    * **All from hypocalcemia
273
Q

What are the exam findings of hypocalcemia (6)?

A
  1. Muscle spasms
  2. Chovstek’s sign: facial nerve spasm on tapping
  3. Trousseau’s: hand spasm with blood pressure cuff inflated
  4. Seizures
  5. Tetany
  6. Hyperreflexia
274
Q

What hormones is secreted by the anterior pituitary gland?

A 
FATPIG
F - FSH/LH
A - ACTH
T - TSH
PI - prolactin
G - GH
275
Q

What are the two hormones secreted by the posterior pituitary gland?

A
  1. Oxytocin

2. ADH

276
Q

How do you distinguish between primary and secondary adrenal insufficiency on clinical features and labwork?

A

Primary adrenal insufficiency: adrenal gland dysfunction

  • elevated ACTH
  • low cortisol or low mineralcorticoid (hyponatremia/hyperkalemia)
  • will see hyperpigmentation (due to pituitary gland trying to stimulate the adrenals and also secreting MSH)

Secondary adrenal insufficiency:
hypothalamic or pituitary dysfunction
-low ACTH
-low cortisol, normal mineralocorticoid (controlled by RAAS system, not hypothalamus or pituitary; thus no hyponatremia/hyperkalemia)

277
Q

What is the differential diagnosis for primary adrenal insufficiency (5)

A
  1. Autoimmune: isolated, autoimmune polyendocrinopathy syndromes
  2. Infectious: meningococcemia, disseminated fungal infections, TB
  3. Trauma: bilateral adrenal hemorrhage
  4. Inherited enzymatic defects: CAH
  5. Iatrogenic: exogenous steroids
278
Q

What conditions should be screened for in obese patients? (8)

A
  1. Hyperlipidemia
  2. Obstructive sleep apnea
  3. Type 2 DM
  4. Hypothyroidism
  5. SCFE
  6. Intracranial hypertension
  7. PCOS
  8. Accelerated growth secondary to increased estrogen
279
Q

What is the diagnostic criteria for PCOS?

A
  1. Anovulation or oligoovulation
  2. Hyperandrogenism

(Ultrasound findings not a criteria for teens)

280
Q

What are clinical features of rickets?

A

General:

  1. FTT
  2. Fractures
  3. Frontal bossing
  4. Delayed anterior fontanelle closure
  5. Delayed eruption of teeth
  6. Craniotabes (soft, thin skull)

Chest:

  1. Ricketic rosary: prominent knobs of bones at costochondral joints
  2. Harrison’s groove: diaphragm pulls weakened bones downward
  3. Atelectasis

Wrist:
1. Widening of wrist

281
Q

How do you calculate mid parental height?

A

Girl: [(mom’s ht in cm + dad’s ht in cm) - 13 cm] / 2

Boy: [(mom’s ht in cm + dad’s ht in cm) + 13 cm] / 2

282
Q

Which is the only pituitary hormone that is suppressed by a hypothalamic factor?

A

Prolactin - inhibited by hypothalamic release of dopamine
-thus, in hypothalamic deficiency, you get a decrease in most pituitary hormone secretions but can have increase in prolactin secretion

283
Q

In a baby born with ambiguous genitalia, what is the most important thing to do on exam?

A

Establish whether there are palpable gonads in the scrotum or inguinal canal
-if you feel testicles, Y chromosome is more likely

284
Q

Broadly, what are the 3 causes of ambiguous genitalia in a male patient (XY chromosome on karyotype)?
-useful investigations?

A
  1. Defective adrenal production of androgens
  2. Lack of proper testicular testosterone synthesis
    - ie: 5 alpha reductase deficiency = inadequate conversion of testosterone to DHT leaing to ambiguous external genitalia but normal internal genitalia
  3. Failure of target tissues to respond to androgens
    - complete vs. partial androgen insensitivity
    - complete: presents in adolescence since child appears phenotypically female and when reaches adolescence, amenorrhea is noted
    - partial: has ambiguous genitalia thus is diagnosed at birth
    - useful investigations: testosterone and DHT (dihydrotestosterone) levels
285
Q

What are the 2 most common causes of ambiguous genitalia in a female patient (XX chromosome on karyotype)?

A

Virilization occurs when the female fetus is exposed to excessive androgens; since mullerian inhibiting substance is not present however (secreted only by testicles which only develop when there is a Y chromsoome), female internal reproductive organs are normal

  1. Congenital adrenal hyperplasia
  2. Maternal exposure to exogenous androgens
286
Q

What are potential sources of maternal androgens that could contribute to virilization of a female baby?

A
  1. Use of progestins during pregnancy
  2. Ovarian or adrenal tumors
  3. Maternal CAH
287
Q

What syndromes are associated with tall stature (ie. height 2 SD above mean)?

A
  1. Marfan syndrome
  2. Klinefelter
  3. XYY
  4. Homocystinuria
  5. Growth hormone excess (cerebral gigantism from pituitary GH-producing tumor or GH-releasing factor producing tumor in hypothalamus)
288
Q

What is the definition of precocious puberty?

-in girls vs. boys?

A
  • Girls: Onset of puberty prior to age 6 in African American girls and prior to age 8 in all other races
  • Boys: onset of puberty prior to age 9
289
Q

What are the 2 broad categories for classifying etiologies of precocious puberty?

  • main causes for each?
  • clinical features of each?
  • treatment for each?
A
  1. Gonadotropin-dependent (ie. central) precocious puberty
    - will see HIGH LH & FSH due to increased pituitary gland production
    - early hypothalamic GnRH secretion occurs = usually idiopathic in females but more likely to be secondary to another process in males
    - clinical features: accelerated linear growth with advanced bone age (but this means earlier fusion of epiphysis which leads to adult short stature), pubertal levels of LH, FSH, estradiol, testosterone, in boys will see bilaterally enlarged testes
    - diagnose with GnRH stim test
    - treatment: GnRH agonists, ie. lupron (remember that pituitary gland releases FSH & LH based on pulsatile release of GnRH by hypothalamus; thus with GnRH agonist acting at the pituitary GnRH receptors at all times, will actually have decreased FSH & LH production due to desensitization)
    - Causes (think CNS lesion):
    1) Hypothalamic hamartoma
    2) Gliomas
    3) Trauma
    4) Postinfectious changes
    5) Hydrocephalus
  2. Gonadotropin-independent precocious puberty:
    - will see LOW FSH/LH due to excess androgens causing negative feedback loop
    - Causes (think tumor):
    * girls: 1) Exogenous estrogens (pills/creams)
    2) estrogen-producing tumors of the ovary or adrenal gland
    3) ovarian cysts
    4) McCune-Albright syndrome
    * boys: 1) topical androgens
    2) adrenal enzymatic deficiencies
    3) testicular tumor
    4) Leydig cell hyperplasia
    5) HCG-producing tumors
    6) adrenal tumors
    - clinical features: virilization, increased linear growth, usually normal sized testes for age
    - treatment: remove the source of excess androgen
290
Q

In what age group does premature thelarche commonly occur?

A

Ages 1-4 yo

-average: 18 months

291
Q

What is the differential diagnosis for gynecomastia?

-distinguishing features between the 2 broad categories?

A

Physiologic vs. pathologic

  • Physiologic: occurs in 40% of boys, breast enlargement starts at tanner stage 2-3, lasts ~ 2 yrs, can be unilateral or symmetric
  • pathologic: onset before or after puberty, rapid progression, nipple discharge, drug use, >4 cm of breast tissue, small testicles, testicular mass, abnormal neurologic exam, tall & slim body habitus (eunuchoid body habitus = Klinefelter)
  • ddx for pathologic gynecomastia:
    1. Klinefelter syndrome
    2. Partial androgen insensitivity
    3. Hyperthryoidism
    4. Marijuana
    5. Liver disease or tumor
    6. Adrenal or testicular tumor
292
Q

What are the 2 broad categories of delayed puberty?

-ddx for each?

A

Primary gonadal delayed puberty (problem with the ovary/testes) vs. secondary gonadal delayed puberty (problem with the CNS axis)

Primary gonadal delayed puberty:

  • will see INCREASED LH/FSH since the pituitary gland is trying to stimulate the gonad to produce androgens and is getting nothing back
  • ddx (common):
    1. Chemotherapy/radiation therapy
    2. Autoimmune destruction
    3. Androgen insensitivity syndrome (XY karyotype but phenotypically female = develop breasts but never grow sexual hair or have menarche)
    4. Complete 17 alpha hydroxylase deficiency: cannot make any sex steroids
    5. Turner syndrome: no breast development since ovaries fail prior to puberty, still develop sexual hair since adrenals are still making androgens
    6. Klinefelter syndrome:

-treatment: replacement of sex steroids (ie. testosterone injections or conjugated estrogens, OCP to induce menses)

Secondary delayed puberty (hypogonadotropic): -will see DECREASED LH/FSH since there is either a problem with the hypothalamus not making GnRH or pituitary gland not making LH/FSH and thus nothing is stimulating the gonads to secrete sex hormones

  • ddx:
    1. Constitutional delay (most common)
    2. Kallmann syndrome: Failure of GnRH neurons to migrate to the hypothalamus during embryogenesis and thus lack of cells that secrete GnRH = thus have hypogonadotropic hypogonadism. Patients also have anosmia or hyposmia (altered sense of smell)
    3. Pituitary adenoma: secretes prolactin which acts on negative feedback loop and decreases LH/FSH release
    4. Hypothyroidism
    5. Chronic illness/malnutrition
  • investigation: do GnRH stim test to differentiate between these two (Kallmann will have low or absent GnRH), CNS imaging to r/o tumor
  • treatment: replacement of sex steroids
293
Q

What is the screening test for growth hormone deficiency?

A

IGF-1

-if this is abnormal, then do growth hormone stim test

294
Q

What is the workup for someone with short stature and poor growth velocity?

A
  1. Endocrine screen: *For anterior pituitary:
    Go find the adenoma please
    -Go = growth hormone (measure surrogate which is IGF-1)
    -Find = FSH and LH (no point in
    -The = TSH and FT4
    -Adenoma = ACTH = do cortisol level
    -Prolactin = rules out mass
  • For posterior pituitary problems:
  • lytes to rule out ADH abnormalities
  • oxytocin is not going to be super helpful

Include CBC + diff, BUn, Cr, ALT, Bili as well

295
Q

What is normal puberty?

A
  • Girls: NORMAL to start between 8-13 years old

- Boys: NORMAL to start between 9-14 years old

296
Q

What are the clinical features of Turner syndrome?

A
  1. Short stature
  2. Lowset ears
  3. Cystic hygroma
  4. High arched palate
  5. Short, webbed neck
  6. Shield chest with widely spaced nipples
  7. Low posterior hairline
  8. Primary amenorrhea
  9. Cubitus valgus
  10. Bicuspid aortic valve (most common cardiac issue)
  11. Coarctation of aorta
297
Q

How big do testes have to qualify as puberty?

A

4 ml or 2.5 cm

298
Q

In a patient with precocious puberty, what are the first two investigations you should do?

A
  1. Look at growth velocity
  2. Order bone age
    * ***if there is increased growth velocity and advanced bone age, then there is a pathological cause of precocious puberty
299
Q

What is a complication of lupron?

A

Sterile abscesses at IM injection site

300
Q

When do you treat precocious puberty?

A

Depends on age (usually treat for girls <6)

to preserve growth and for psychosocial reasons

301
Q

What are the androgens we measure in precocious puberty? (4)

A
  1. DHEAS
  2. Testosterone
  3. 17 OH P
  4. Androstenedione
302
Q

What is the definition of premature thelarche?

-what are the mandatory requirements to make this diagnosis?

A

Premature thelarche = breast enlargement WITHOUT development of nipples or areola

  • can occur in girls 1-4 yo and may be unilateral
  • In order to make this diagnosis: need NORMAL growth velocity (ie. there is no acceleration of linear growth) and NORMAL bone age (ie. no advanced bone age)
  • this is what differentiates this from precocious puberty
303
Q

What are the calcium and phosphate levels seen in hypoparathyroidism?
-what about vitamin D deficiency?

A

Low calcium and high phosphate

-vitamin D deficiency: low calcium and low phosphate

304
Q

What are possible diagnoses if you see calcium low, phosphate low, magnesium low? (2)

A
  1. Malabsorption

2. Renal losses

305
Q

What is the role of PTH in hypocalcemia?

A

**remember that the KEY in hypocalcemia is getting a PO4 level to see if it is related to hypoparathyroidism or not
Calcium is tightly controlled by PTH (released by parathyroid glands)
-calcium sensing receptors in parathyroid gland. If Ca low, PTH release occurs
-PTH has direct and indirect effects to try to increase serum calcium
-bone resorption and causes release of calcium
-in kidneys, PTH causes calcium reabsorption and increases calcitriol production (1,25-OH2D = activated form of vitamin D)
-1,25-OH-2D = acts on gut to increase calcium absorption
***need a normal magnesium level for PTH to function normally (ie. hypomagnesemia can lead to hypoparathryroidism)

306
Q

Vitamin D synthesis in body: what is the pathway?

A

Vitamin D3 is from the skin
Liver –> 25 OH D
Kidney –> 1,25 OH2 D (active form!)

307
Q

A patient with hypocalcemia also has alopecia. What is the most likely diagnosis?
-what is the inheritance pattern of this condition?

A

Vitamin D resistant rickets = 50% can be associated with alopecia

  • this is caused by inability to reabsorb phosphate so will get LOW PO4 and normal or low calcium
  • inheritance pattern: X-linked dominant
308
Q

What tests should be included in a critical sample for hypocalcemia? (10)

A
  • Most important:
    1. PO4    *
    2. PTH**
    3. Calcium    **
    4. 25-OH-D
    5. 1,25-OH2-D
    6. ALP
    7. Mg**
    8. Consider liver function/enzymes
    9. Consider renal function
    10. Urine calcium:Cr ratio    **

**2 lavendar + 2 green tubes

309
Q

What is the treatment of hypocalcemia secondary to hypoparathyroidism?
-what if the hypocalcemia is secondary to GI/renal losses?

A

How you treat will depend where the problem is! If hypomagnesmia, need to replace Mg

  1. Calcium
  2. Calcitriol (aka 1,25-OH2-D) since without PTH, you will not be able to convert 25 OH vitamin D to 1,25 OH2 D and thus not have adequate GI absorption of calcium

If hypocalcemia is secondary to GI/renal losses:

  1. Vitamin D2 (vitamin D drops, ergocalciferol)) and then this can be converted to subsequent types of vitamin D active forms
  2. Calcium
310
Q

What are the steps of glucose production in a fasting state based on timing after last meal?

A
  1. Glycogenoloysis happens in first 4-8 hrs
    - if you can’t do this, glycogen storage disorders
  2. Gluconeogenesis from amino acids in 8-12 hours
  3. Fatty acid oxidation at 12-18 hours in infants or 18-24 hours in children
311
Q

If hypoglycemia occurs secondary to hyperinsulinism, when is the timing of hypoglycemia?

A

-hyperinsulin states = hypoglycemia happens immediately after feed because bolus of glucose causes bolus of insulin release

312
Q

Important clues to diagnosis cause of hypoglycemia?

A
  1. Ketones?
  2. Timing?
  3. Hypoglycemia meds in the family (ie. ingestion)?
  4. Acute illness?
  5. Prolonged fasting?
  6. Salt craving? = primary adrenal insufficiency (deficiency of mineralcorticoid)
  7. Headaches/visual changes = secondary adrenal insufficiency due to brain tumor
  8. Growth?
  9. Acidotic?
313
Q

What are the free fatty acid/glucose/ketone levels in:

  • MCAD
  • hyperinsulinism
A

MCAD = high free fatty acid and normal glucose requirements, ketones are low

Hyperinsulinism: glucose requirements are high and free fatty acids are low, ketones are low

314
Q

How do you calculate glucose infusion rate?

A

(%glucose in solution)(TFI)/144

315
Q

How do you calculate corrected Na?

A

Take blood sugar, substract 5.6 (this is a normal blood sugar) and divide by 3.5 = then add this to measured sodium!
-ex. BG 25? (25 - 5.6)/3.5 = add this to the measured Na level

316
Q

What are risk factors for cerebral edema in patients with DKA?
-how to avoid cerebral edema in DKA treatment?

A
  1. New onset presentation
  2. Hypernatremia (severe dehydration): Na > 145
  3. Age 18), titrate insulin to maintain BG 6-10
    - start SC insulin once acidosis corrected at breakfast or supper (to avoid hyperchloremic metabolic acidosis)
317
Q

What are the major and minor criteria for cerebral edema?

-management?

A

Major criteria:

  • altered mentation/fluctuating LOC
  • sustained heart rate deceleration
  • age appropriate incontinence
Minor criteria:
Vomiting
headache
lethargy/not easily aroused
diastolic pressure > 90
Age
318
Q

What are the diagnostic criteria for hyperglycemic hyperosmolar syndrome?

A
  1. Severe hyperglycemia (BG > 33)
  2. Serum osmolality > 330 mmol/L
  3. Absence of significant ketosis: HCO3 > 15, urine ketones negative or trace
319
Q

What is the management of hyperglycemic hyperosmolar syndrome?

A
  1. Bolus NS 20 ml/kg
    - assume 12-15% fluid deficit
    - calculate this and correct deficit over 24-48 hrs!
    - don’t be afraid to bolus!!!
    - begin insulin when glucose concentration no longer declining with fluid alone
    - 0.025-0.05 U/kg/h
    - aim to decrease BG by 3-4 mmol/L/h
    - tend to have higher fluid requirements than DKA
    - consider lower dose and later initiation of insulin infusion
320
Q

When would you start insulin in a T2DM patient?

A

If HgA1C > 9%, will need subq insulin!

  • this is because in severe hyperglycemia, even if pancreas is ABLE to make insulin such as in T2DM, the beta islet cells are shocked by the hyperglycemia and will stop producing insulin
  • give them insulin until the BGs are coming down, then may be able to wean off insulin
321
Q

A child with T1Dm comes in with V/D and other people in her family have gastro. Her blood glucose is 18. Urine 3+ ketones, pH 7.35. What do you do?
-what advice do you give parents on discharge?

A

She needs insulin! Need 20% of total daily dose of insulin! Give this in NR!
-ie. total daily insulin dose = 30 units. So give 6 units NR right away.

Advice for parents:

  1. BG checks q2-4h
  2. urine/blood ketones q2-4h, if BG > 14 at any time
  3. Never ever ever omit insulin even if the child is refusing to eat.
322
Q

What are the insulin dose adjustments during illness?

A

This is for EACH PRE MEAL:

BG 14, negative or trace ketones: give 10% of TDD as NR

BG > 14, moderate ketones: give 15% of TDD as NR

BG > 14, large ketones: give 20% of TDD

323
Q

What type of insulin is in an insulin pump?

A

Novorapid only!

-gives continuous basal insulin and then the child boluses the NR pre meals

324
Q

What is your management for T1DM patient who is fasting for surgery and they’re in hospital?

A

Normally: 50% of insulin as basal and 50% of insulin is for when you eat (boluses)

Safest thing to do:

  1. IV fluids with dextrose D5W
  2. Insulin infusion 0.02 U/kg/hr and titrate insulin to maintain BG 6-12
  3. BG monitoring 1h after starting infusion and after any change in infusion rate, then
325
Q

Treatment for hypoglycemia?

A

> 20 kg: 15 g carbs

326
Q

8 yo girl with T1Dm vomiting all night, refusing breakfast, blood glucose in ER 4.3. Urine small ketones. What is your management?

A

Hold rapid since she’s not eating. Decrease her NPH for as long as she is not eating.

327
Q

What is a red flag for delayed bone age compared to chronological age to make you say “hmm…this definitely can not be just constitutional growth delay, there must be a pathological cause!”?

A

Once bone age is > 2 yrs behind chronological age, this is most likely due to a pathological cause and is NOT constitutional growth delay

328
Q

What is the differential diagnosis for decreased IGF-1 levels? (4)

A
  1. Growth hormone deficiency
  2. Hypothyroidism
  3. Malnutrition
  4. Liver disease
329
Q

When is it acceptable for a child to cross percentile lines on the growth curve? (2)
-thus, when is it NOT acceptable and thus investigations should be pursued?

A
  1. During first 2-3 yrs of life since birth weight means nothing in terms of predicting postnatal growth
  2. During puberty since there is variation between children in timing of puberty

**Thus, in between 3 yo and puberty, children should definitely be following their growth curve and not crossing percentile lines!

330
Q

A 2 yo presents with breast development x 6 months. There is no increased growth velocity. There is no pubic hair, axillary hair or acne. What is the best investigation most likely to confirm the suspected diagnosis?

A

BONE AGE!!!!
-if bone age = chronological age, then this is premature thelarche since there are no other signs of puberty and no increased growth velocity!

331
Q

When would you consider ordering head imaging for a girl presenting with true precocious puberty?

A

MOST cases of precocious puberty in girls is idiopathic…however, if there are neurologic s/s OR if she is

332
Q

A patient presents with precocious puberty. What is a clue on history that will tell you whether the precocious puberty is from a CENTRAL vs. PERIPHERAL cause?

A

If the precocious puberty follows the normal, expected sequence of puberty, then most likely it is CENTRAL!

If the precocious puberty does NOT follow the normal, expected sequence of puberty, the most likely it is PERIPHERAL!

  • ie. in girls: if adrenarche occurs prior to thelarche
  • ie. in boysL if adrenarche/pubarche occurs but they have tiny testes still (remember that testicular enlargement is the FIRST STAGE in normal puberty!)
333
Q

A 16 yo girl presents with primary amenorrhea. On exam, she has SMR 5 breast development and SMR 1 pubic hair with no axillary hair. What is the best investigation most likely to reveal the diagnosis?

A

Testosterone level = most likely androgen insensitivity syndrome

  • think this if you see breast development with NO periods and NO adrenarche!
  • Has breasts because with the XY karyotype, she is making testosterone but the tissues’ receptors aren’t responding…thus the testosterone that is kicking around gets aromatized by adipose tissue into estrogen which stimulates the breast development
334
Q

What are the recommended glycemic targets for pediatric patients with T1DM? What about HgbA1C targets?

  • 0-5 yo
  • 6-12 yo
  • > 12 yo
A

Pre prandial 4-8
post prandial 5-10
A1C <7.5%

335
Q

You have diagnosed a child with diabetes insipidus and would like to figure out if it’s central vs. nephrogenic (ie. is the posterior pituitary gland not making any ADH or is the kidney unable to respond to ADH?). What is your next best test?

A

Trial dose of DDAVP (desmopressin), then measure lytes, serum osmolality, urine lytes and urine osmolality.

  • if there is a response to the DDAVP and the kidneys are able to concentrate the urine, then this means the post pit is not making ADH! Next step would then be MRI head to r/o tumor
  • if there is NO response to the DDAVP, then you’ve made the diagnosis of nephrogenic DI
336
Q

What are possible causes of central diabetes insipidus? (5)

A
  1. Post head trauma (ie. basal skull fracture)
  2. Post neurosurgery
  3. Post radiation
  4. CNS tumor of the pituitary gland (germinoma)
  5. Septooptic dysplasia
337
Q

A child presents with polyuria and polydipsia. Their blood glucose and serum lytes are normal. What is your next step?

A

Order serum and urine lytes and osmolality to see if the urine is dilute! This MAY be diabetes insipidus! Remember that a normal electrolyte profile does NOT rule out DI if the patient’s thirst mechanism is intact and they have access to free water!

338
Q

What are causes of congenital hypothyroidism? (6)

A

Permanent:

  1. thyroid dysgenesis (80%)
  2. dyshormonogenesis (10%) = cannot make thyroid hormone
  3. Hypothalamic/pituitary dysfunction (5%) = no TSH

Transient (5%):

  1. Intrauterine antithyroid meds
  2. Maternal antibodies against baby’s thyroid
  3. Iodine deficiency
339
Q

What is the classic triad of pheochromocytoma?

A
  1. Headache - ? from htn
  2. Palpitations/tachycardia
  3. Diaphoresis
    * ***will have sustained hypertension so if you see palpitations/diaphoresis but you don’t see hypertension, it’s most likely not a pheo
  • **spot urinary catecholamines are highly sensitive but NOT specific! Ie. lots of false positives
  • best test: 24 hr urinary catecholamines
340
Q

What is the differential diagnosis for hyperthyroidism? (4)

-treatment options?

A
  1. Graves disease = most common = thyroid gland stimulated by anti thyroid receptor antibodies
  2. Subacute thyroiditis
  3. Suppurative thyroiditis
  4. Toxic uninodular goitre

Treatment options:

  1. Surgery
  2. Radioactive iodine
  3. Methimazole: inhibits the enzyme thyroperoxidase which is needed to make thyroid hormone
341
Q

You see a patient for a goiter. What is the most likely cause?

  • what are possible cilnical features?
  • what is your first diagnostic investigation and why?
A

Goiter = think Hashimoto thyroiditis = lymphocytic infiltation of thyroid gland

Possible clinical features:

  • could be euthyroid = asymptomatic enlargement
  • could have mild hypothyroidism
  • overt hypothyroidism with enlarged or atrophic gland

First investigation: TSH/T4. US if nodule, but not if diffusely enlarged

342
Q

A patient with Addison’s disease comes to you in adrenal crisis. What is your definitive management after stabilizing ABCs?

A

Hydrocortisone 100 mg/m2 for stress dosing = has both mineralcorticoid and glucocorticoid effects!

  • adolescent = give HC 100 mg total x 1
  • infant = give 25 mg total x 1
343
Q

You suspect a patient has Cushing syndrome. What is the BEST test to establish whether excess cortisol is present?

  • what is the most likely cause of Cushing syndrome in a child 5 yo?
  • You have made the diagnosis of Cushing syndrome. What are your next steps in investigation?
A

low dose dexamethasone suppression test or 24 hour urinary cortisol

344
Q

During what age group is the following most likely to present:

  • complete androgen insensitivity
  • partial androgen insensitivity
A
  • complete androgen insensitivity: presents in adolescence since the patient is phenotypically female so no one will suspect the diagnosis until she presents with primary amenorrhea
  • partial androgen insensitivity: presents at birth since the patient will have some virilization of external genitalia but not enough
345
Q

A patient presents with a large, tender thyroid gland and is febrile. What is the most likely diagnosis?

A

Acute suppurative thyroiditis = rare cause of enlarged thyroid, most commonly caused by GAS, staph aureus or strep pneumo
-FNA would reveal purulent material

346
Q

What is the most common type of thyroid malignancy in childhood?

A

Papillary adenocarcinoma

347
Q

Why do you see hypocalcemia in patients with DiGeorge syndrome?

A

Hypoplasia or agenesis of parathyroid glands = thus no PTH to regulate serum calcium levels

348
Q

What is pseudohypoparathyroidism and what will you see on lab findings?
-clinical features?

A

Bone and kidneys are resistant to PTH = see decreased Ca, increased PO4, INCREASED PTH because parathyroid glands are working hard to try to stimulate the bones and kidneys

  • clinical features:
    1. short stature
    2. Mental disability
    3. Brachydactyly (4th and 5th fingers)
    4. increased bone density throughout body (especially in the skull)
    5. Obesity with round facies and short neck
    6. Subcapsular cataracts
    7. Cutaneous and subcutaneous calcifications
    8. Perivascular calcifications of the basal ganglia
349
Q

You see a patient with hypocalcemia. Their PO4 levels are low and their PTH is high. What is the most likely diagnosis?

A

Vitamin D deficiency = can be from decreased dietary intake, decreased sunlight, malabsorption (CF, pancreatitis, celiac disease), liver or renal failure

350
Q

What is an ACTH stim test used to diagnose?

-how is it done?

A

Adrenal insufficiency = used to determine whether glucocorticoid insufficiency is due to primary or secondary cause

  • steps:
    1. measure cortisol level
    2. give ACTH
    3. re-measure cortisol level to see if it has risen! If it has, then this means that the adrenal gland is working fine and there is a central cause of adrenal insufficiency (hypothalamic or pituitary gland dysfunction). If there is no change, then it is a primary adrenal gland problem (most likely autoimmune)
351
Q

What is Cushing Disease?

A

Excess glucocorticoid specifically from an ACTH-producing pituitary adenoma!

352
Q

What is the most likely cause of a false positive on a congenital hypothyroidism newborn screen?
-false negatives?

A

False positive: newborn screen done within 24 hrs of birth = there is a normal TSH surge occurring after birth

False negatives: prematurity, maternal antithyroid drugs, maternal iodine deficiency

353
Q

What are the criteria for screening for type 2 diabetes?

  • when do you start screening?
  • what is the screening test used?
A

All children who are overweight (BMI > 85th percentile) with at least 2/4 risk factors:

  1. Family history of type 2 DM in 1st or 2nd degree relatives
  2. First nations, African americans, hispanic, asian/pacific islander
  3. Signs of insulin resistance or conditions assocaited with insulin resistance: acanthosis nigricans, hypertension, dyslipidemia, PCOS
  4. Hx of gestational diabetes in mom
  • start screening at 10 yrs or at onset of puberty if puberty occurs at younger age
  • screening test: fasting plasma glucose q2y
354
Q

WHat are the type of adrenal androgens?

A 
DHEAS = weak androgen
Androstenedione = weak androgen
Testosterone = strong androgen
DHT = strong androgen
  • **In adult males: adrenals produce 5% of androgens
  • **In adult females: adrenals produce 50% of androgens
355
Q

How can you tell the difference between primary vs. secondary adrenal insufficiency?

A

Primary adrenal insufficiency = can also see mineralcorticoid deficiency (salt craving, abN lytes)! Also will see hyperpigmentation. High ACTH.
-salt craving*****

Secondary adrenal insufficiency = will not see mineralcorticoid deficiency. Low ACTH.

356
Q

Causes of primary adrenal insufficiency?

  • how might an infant present with primary adrenal insufficiency compared to a child?
  • labwork to draw?
A

Congenital

  1. CAH
  2. adrenoleukodystrophy (only treatment is bone marrow transplant)
  3. ACTH resistance

Acquired:

  1. Autoimmune adrenalitis = addison’s
  2. Hemorrhage/infection

Infants: greater requirement for aldosterone so without it, will become hyponatremic/hyperkalemic much faster! Also become ill super fast with hypoglycemia because they have less ketosis, also have less hyperpigmentation because get really sick before they have time to become hyperpigmented

Labwork: glucose, lytes, gas, cortisol, acth, aldosterone, renin BEFORE steroids given!

357
Q

What is the management of acute adrenal crisis?

-chronic?

A

BSA = square root of ht (cm) x wt (kg) / 3600
Acute:
1. Hydrocortisone: 100 mg/m2, then 25 mg/m2 q6h (can try 2 mg/kg if you don’t know the dose)
2. Restore volume with boluses
3. Critical sample before steroids
4. Support: BP, BW, Endo, PICU
5. +/- vasopressors, more glucose
6. +/- EKG, calcium, HCO3, Kayexalate, glucose + insulin

Chronic:

  1. Hydrocortisone 8-10 mg/m2/day div TID
  2. Fludrocortisone 0.05 to 0.3 mg daily (if aldo def)
  3. Education on Stress dosing
358
Q

Stress dosing for adrenal insufficiency?

-mild, moderate, emergent?

A

Emergent: hydrocortisone 100 mg/m2 IV then 25 mg/m2 IV q6h

Moderate (vomiting, fever > 38.5): hydrocortisone 30 mg/m2 PO/IV q8h (ie. triple normal home dose)

Mild illness (fever > 37.5): hydrocortisone 20 mg/m2 PO divided TID (ie. double normal home dose)

  • **normal physiologic dose = 10 mg/m2/day
  • children are usually on hydrocortisone at home if they have adrenal insufficiency
359
Q

What are clinical features of transient pseudohypoaldosteronism?
-causes? (3)

A

Resistance to aldosterone but see high aldosterone and renin, normal cortisol. Will resolve as soon as the underlying condition is treated

  • causes:
    1. Obstructive uropathy
    2. UTI
    3. SCD
360
Q

What investigations should be ordered for a baby with suspected CAH?

A
  1. Lytes
  2. Glucose
  3. Gas
  4. 17 OH P
  5. DHEAS, androstenedione
  6. Reinin
  7. Aldosterone
  8. Cortisol
361
Q

What is the management for central DI?

A
  1. Replace insensible losses: 400 ml/m2/day, replace with D5NS + 40 mEq/L KCl
  2. Replace u/o 1:1 q2hrly = if urine Na > 150, can use NS, if urine Na 50-150, then use 0.45NS, urine Na
362
Q

How do you replace fluid volume for hypernatremia?

A

TBW x (serum Na - 140)/140 **don’t want to decrease serum Na by more than 10 mmol/day…so if their initial Na is 170, then you wanna use 160 as your ideal instead of 140

  • TBW = 0.6 x wt (kg)
  • then give this volume over the next 24-48 hrs
  • use dextrose D5W fluid = this is free water

***Then you add urine output replacement 1:1 q2hrly AND add insensible losses = 400 ml/m2/day but you have to use D5WNS + 40 KCl so need to get a second line. Do NOT use 4:2:1 rule!!! Because this takes into account his urine output which we are already doing!!!!

363
Q

Treatment of SIADH?

-how to correct hyponatremia?

A
  1. Water restriction - only give insensibles (400 ml/m2) + 50-100% u/o (especially if you don’t know what the cause of their SIADH is)
  2. 3% NaCL 5 ml/kg only if symptomatic = max Na = 0.5 mEq/L/hr to prevent central pontine myelinolysis
  3. Chronic treatment: 1000 ml/m2/day water
364
Q

Clinical features of cerebral salt wasting?

-treatment?

A

Loss of extra-cellular fluid = low serum sodium but HIGH urine output, may be secondary to atrionaturetic peptide causing increased urine output (osmotic diuresis)
-causes: brain tumors, post neurosurgery, traumatic brain injury

Treatment:

  1. Insensibles NS + 40 KCl
  2. Replace U/O 1:1 with NS
  3. Replace losses
  4. Avoid rapid increase in Na
365
Q

What are the expected calcium levels and phosphate levels seen in vitamin D deficient rickets?

A

Ca can be normal or low
PO4 will be low!!!
-This is because without vitamin D, you get hypocalcemia and thus PTH secretion. PTH causes mobilization of calcium and phosphorus from bone and then subsequently resorption of calcium by kidneys and excretion of phosphate

366
Q

A short 4 year old girl with cognitive impairment presents with brachydactyly of the 4th and 5th digits, obesity with round facies, short neck, subcapsular cataracts, cutaneous and subcutaneous calcifications, and perivascular calcifications of the basal ganglia. What is your diagnosis?

A

Pseudohypoparathyroidism!

  • Will see low Ca, high PO4 but HIGH PTH!!!!!
  • unresponsiveness of the renal tubules to parathyroid hormone
367
Q

What is secreted by medullary carcinoma of the thyroid?

A

Calcitonin!

-but usually see normal calcium and phosphorus levels

368
Q

Macro‐orchidism

A
  • McCune-Albright yndrome
  • Longstanding primary hypothyroidism
  • CAH
  • Fragile X syndrome (80% pubertal boys)
369
Q

When can you normally cross %?

A

First 2-3 years

Puberty

370
Q

no lymph nodes, no tonsils, no Thymus on CXR)

A

SCID

371
Q

no tonsils, no lymph nodes

A

X-linked gammaglobinemia

372
Q

“Clues” on basic immunology wu

A
  • Normal ESR: chronic bacterial or fungal infection unlikely
  • Persistently high neutrophil count – leukocyte adhesion deficiency should be suspected, if its normal, congenital
    and acquired neutropenias and leukocyte adhesion defects are unlikely
  • Absolute lymphotcyte count is normal: severe T-cell defect unlikely (T cells constitute 70% of circulating
    lymphocytes – if they are absent, you usually have a striking leucopenia). If lymphocytes
373
Q

AD Immunodeficiency

A
  • Hereditary angioedema (C1 esterase)
  • Hyper IgE (STAT 3)
  • DiGeorge syndrome (22 q11)
  • Autoimmune lymphoproliferative syndrome (FAS)
374
Q

X linked immunodeficiency

A
  • X-linked agammaglobulinemia (8TK)
  • X-linked SCID (IL2R gene)
  • X-linked Hyper IgM syndrome (CD40-ligand)
  • Wiskott- Aldrich syndrome (WASP)
  • X-linked lymphoproliferative dz (SH2D1A)
  • IPEX
  • X-linked CGD (gp91)
  • X-linked dyskeratosis congenital (dyskerin)
375
Q

SCID blood test

A

ADA

TRECs

376
Q

Chediak Higashi Syndrome

A

Albinism and recurrent infections (Silver hair)
Giant granules inside the neutrophils (look on the smear – ask them to look for the giant granules)
Can have a lot of bleeding – problem with platelets and neurological problems with age.
If you transplant them, you improve their immunological status, but don’t improve their neuro outcome (same thing with AT)
Chiagasi : cutaneous-ocular albinism
Accelerated phase – bad !!! die really quickly
Need to get transplanted before they get sick

377
Q

Ataxia‐Telangiectasia

A

Characterized by:

  • Abnormal DNA repair
  • complex multisystem dz with variable immune deficiency
  • progressive cerebellar ataxia, occulomotor abnormalities
  • usually confined to a wheel chair by 10-12 yrs
  • recurrent sino-pulmonary infections, pneumonia and bronchiectasis
  • decreased ability to make antibodies, 50-80% have absent IgA
  • decreased T cell numbers and responses to stimulation
  • 15% pts develop malignancy
  • Lymphoma + ataxia is AT until proven otherwise
378
Q

IgA Deficiency

A 
Most common PID
90% asymptomatic
Reucrrent sinopulmonary infections
Higher autoimmune and allergic diseases
Especially SLE, RA, IBD
379
Q

Transient hypogamma of infancy

A

DX OF EXCLUSION

Prolonged physioogic nadir

380
Q

X linked agamma

A

Tyrosine kinase BTK
No immunoglobulins
IVIG lifelong

381
Q

CVID risks of autoimmunity

A 
20-25%
Cytopenias
GI: IBDlike, gastritis, Small bowel nodular lymphoid hyperplasia
Arthritis
Garnualomas
Thyroiditis
382
Q

CVID Malginancy

A

Increased incidiecne fo hyphoreticular and gastric: LYMPHOMA

383
Q

What are the causes of hypercalcemia?

A

Remember the “High 5-Is” mnemonic: H (hyperparathyroidism) plus the five Is (idiopathic, infantile, infection, infiltration, and ingestion) and S (skeletal disorders).

Hyperparathyroidism:

Idiopathic: Williams syndrome

Infantile:

Subcutaneous fat necrosis
Secondary to maternal hypoparathyroidism and inadequate transfer of calcium across the placenta.

Infection: Tuberculosis

Infiltration:

Ingestion: A/D, Thiazide

Skeletal Disorders: Immobilization,Skeletal

Paediatrics Royal College (11 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions