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Pediatrics Board Review > Deck 1 > Flashcards

Deck 1 Flashcards

1
Q

Stool findings in Celiac

A

Access fat in stool in the absence of pancreatic insufficiency (normal pancreatic elastase). NO inflammation (no WBCs in stool). Watery diarrhea, acidy stool (diaper rash)

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2
Q

Shwachman Diamond syndrome

A

Bone marrow failure; Cytopenia
Malabsorption; Steatorrhea and growth failure
Skeletal abnormalities

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3
Q

Pathogenesis of Celiac

A 
Genetic susceptibility (HLA DQ-2 and DQ8) 
T Cell mediated inflammatory response in small bowel
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4
Q

Diagnosis of Celiac

A

Definitive diagnosis with biopsy; villous atrophy and increased round cell infiltration
Labs: TTG and IgA

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5
Q

Causes of villous atrophy seen on small bowel biopsy

A 
Severe Crohn disease 
Cell mediated, congenital and acquired immune deficiencies 
Radiation enteritis 
Severe cow mill protein allergy 
Giardia
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6
Q

IgA Nephropathy

A

Acute, painless hematuria with URI illness
Gross hematuria, proteinuria, hypertension and azotemia
NORMAL complement levels
10% of pts have risk of chronic renal disease (increased risk with persistent proteinuria)
Renal biopsy findings identical to Henoch-Schonlein purpura

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7
Q

Alport Syndrome

A

Autosomal dominent
Hearing loss, Cataracts at learly age
Hematuria
Renal failure

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8
Q

Henoch-Scholein purpura

A

Hematuria (can last for years)
Renal biopsy findings identical to IgA nephropathy
***

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9
Q

Post streptococcal glomerulonephritis

A

Follows strep infection (throat or skin)
Hematuria, hypertension and edema
LOW level C3

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10
Q

Glomerular causes of hematuria (secondary to systemic disease)

A

SLE
Henoch-Scholein purpura
HUS
Subacute bacterial endocarditis

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11
Q

Glomerular causes of hematuria (primary renal)

A

Post-strep glomerulonephritis (LOW C3)
IgA nephropathy (NORMAL compliments)
Membranoproliferative glomerulonephritis
Alport
Thin basement membrane disease (benign familial)

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12
Q

Nonglomerular causes of hematuria

A 
Renal sontes 
Hypercalciuria 
Hemoglobinopathies 
Renal tumors (rare in children) 
Vascular malformations 
Thrombocytopenia 
Polycystic kidney
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13
Q

MEN Type 2B

A

On exam: Tall, thin habitus, Full lips, Joint laxity
Mucosal neuromas
GI tract neuromas (constipation, diarrhea)
Alacrima
Medullary thyroid carcinoma (occurs in 100% of cases)
Pheochromocytoma

RET protoncogene

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14
Q

MEN Type 2A

A

Medullary thyroid cancer
Pheochromocytoma
Parathyroid cancer
Benign tumors of parathyroid and adrenals

RET protoncogene

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15
Q

MEN Type 1

A

Pituitary adenoma
Parathyroid hyperplasia/tumors
Pancreatic tumors

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16
Q

Parvovirus

A

Erythema infectiousum (Fifth disease)
“slapped cheek” rash followed by symmetric, lacy or maculopapular rash over trunk and extremities (itchy)
Arthralgia
Papular-purpuric gloves-and-socks syndrome
Bone marrow suppressions; anemia
Aplastic crisis for SS pts
Infection in pregnancy -> fetal hydrops, IGUR, demise, NO congenital anomalies

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17
Q

Trisomy 13 Phenotype

A

Midline defects
Scalp defects (cutis aplasia)
Rocker-bottom feet
Cardiac and renal abnormalities

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18
Q

Trisomy 18 Phenotype

A

Clenched hands with overlapping fingers
Rocker-bottom feet
Short sternum
Cardiac, renal and ocular abnormalities

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19
Q

Microcytic anemias

A

(Deficiency of RBC components)

  • Iron deficiency
  • Thalassemia
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20
Q

Normocytic anemias

A
  • Competition for marrow space (ie leukemia)
  • Viral suppression
  • Idiopathic
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21
Q

Macrocytic anemia

A
  • Vit B12 or folate deficiency

- Bone marrow failure syndromes (ie Diamond Blackfan Anemia)

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22
Q

Types of Hemolytic anemias

A

Intrinsic:

  • Membrane fragility (ie hereditary spherocytosis)
  • Hemoglobinopathies (ie SSD)
  • Enzyme deficiency (ie pyruvate kinase deficiency)

Extrinsic:

  • Antibody mediated (ie autoimmune hemolytic anemia)
  • Mechanical (ie HUS)
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23
Q

Diamand Blackfan Anemia

A
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24
Q

Early vs Late onset Listeria

A

Early: At birth, Preterm birth, gestational complications, green/brown stained amniotic fluid, respiratory distress and sepsis. Erythematous papular rash. Mortality 5%

Late: 1-8 weeks of life (typically 2 weeks), Term, uncomplicated gestation. Bacteremia and meningitis. Mortality 5%

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25
Q

Pathophysiology of Central Diabetes Insipidus

A

Inadequate secretion of antidiuretic hormone (ADH) from posterior lobe of pituitary gland.
Lack of ADH = large amounts of free water to be lost in the collecting duct of kidney

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26
Q

Lab findings in Central Diabetes Insipidus

A

Low urine specific gravity
Low urine osmolality on first void
Normal or high serum sodium (high if not able to compensate with increased intake)

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27
Q

Nephrogenic DI vs central DI; Testing

A

Nephrogenic: Inability of renal tubules to respond to ADH

Central: No ADH produced

Urine specific gravity will increase after exogenous ADH during water deprivation test in CDI but not with NDI

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28
Q

When is puberty considered delayed in boys and girls?

A

Boys: lack of testicular growth by 14 years

Girls: lack of breast development by 13 years

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29
Q

Type IV hypersensitivity

A

Delayed hypersensivity
Cell mediated, T Cell activation after repeat exposure

ie: poison ivy/oak/sumac

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30
Q

Most common pathogen to cause infective endocarditis

A

Staph aureus and Strep viridans (Step sanguis, mitis, orialis, and anginosus)

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31
Q

Pediatric presentation of Infective Endocarditis

A 
Fever, malaise, anorexia, arthralgias 
Heart failure 
Splenomegaly 
Petechiae
New or changing murmur 
Embolic phenomenon
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32
Q

Initial treatment for infective endocarditis

A

Vanc and Gent

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33
Q

HACEK bacteria

A 
Gram negative bacilli; seen in infective endocarditis 
Haemophilus species
Actinobacillus actinomycetemcomitans 
Cardiobacterium hominis 
Eikenella corrodents 
Kingela
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34
Q

Who should receive prophylactic antibiotics for dental procedure?

A
  • Prosthetic heart valve
  • Previous IE
  • Unrepaired or recently repaired cyanotic coronary heart disease
  • Heart transplant recipients with valvuopathy

(ppx is Amox or Cephalexin 1 hr prior)

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35
Q

Preventative medication for migraine in adolescents

A

Topiramate

Also can consider amitriptyline, cyproheptadine and propranolol

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36
Q

Presentation of of congenital/early onset glaucoma

A

Corneal clouding
Photophobia
Chronic tearing
Infants may not track/fixate on objects

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37
Q

Vit K dependent factors

A

II, VII, IX, X (and proteins C and S)

both intrinsic and extrinsic, so both PT and PTT are prolonged in Vit K deficiency

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38
Q

What factor is deficient in Hemophilia A and B?

A

Hemophilia A: VIII

Hemophilia B: IX

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39
Q

Factors in Intrinsic pathway

A

I, II, IX, X, XI and XII

aPTT

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40
Q

Factors in Extrinsic pathway

A

I, II, VII and X

PT

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41
Q

Fanconi anemia

A
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42
Q

Treatment for Hemophilia

A
  • Desmopressin acetate (DDAVP)

- Recombinant factor replacement

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43
Q

von Willebrand Disease; What is it, presentation and treatment

A

vWF binds to platelet surface stimulating adhesion/clot formation. Also is carrier for factor VIII.

Easy bruising, post op bleeding, epistaxis, menorrhagia

Normal PT
Abnormal platelet function test
Prolonged PTT

DDAVP for treatment

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44
Q

Factors in Common Coag Pathway

A

I (Fibrinogen), II (Thrombin), V (converts prothrombin to thrombin)

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45
Q

Calculate serum anion gap

A

Sodium - (Chloride + Bicarbonate)

Normal = 8 to 12

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46
Q

Calculate urine anion gap

A

(Urine sodium + Urine potassium) - Urine chloride

If Na+ K is > Cl, then gap is POSITIVE
This indicates RTA (rather than diarrhea)

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47
Q

Causes of Elevated Anion Gap Metabolic Acidosis

A 
MUDPILES 
Methanol 
Uremia 
DKA
Paraldehyde 
Iron / Isoniazid / Inborn errors of metabolism 
Lactic acidosis 
Ethylene glycol / Ethanol 
Sailicylates
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48
Q

Causes of Normal Anion Gap Metabolic Acidosis

A

DR HAUP

Diarrhea 
RTA
Hyperalimentation 
Acetazolamide 
Ureterosidmoid fistula 
Pancreatic fistula
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49
Q

Symptoms/Findings of Congenital Adrenal Hyperplasia

A 
Failure to thrive 
Atypical genitalia 
Metabolic acidosis OR alkalosis 
HYPOnatremia 
HYPERkalemia

ACTH: High,
Cortisol: Low Testosterone: High

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50
Q

Normal pH of urine

A

Average 6

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51
Q

Cushing Triad

A

Bradycardia
Hypertension
Irregular respiration

= ICP and impending herniation

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52
Q

Unilateral mydriasis

A

“Blown pupil”
Compression of 3rd cranial nerve
Indicative of uncal herniation under tentorium cerebelli

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53
Q

Waardenburg sydrome

A

ALWAYS hirsprungs

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54
Q

Prader Willi

A

Paternal deletion of region on 15q

Infant: Hypotonia, FTT, developmental delays

Child: Hyperphasia and obseity, OCD, anxiety, picking behavior

Phenotype: Almond shaped eyes, thin upper lip, small hands/feet. Hypogonadism, scoliosis, sleep apnea, temp instability, short stature

Growth hormone deficiency (universal), and variable central adrenal insufficiency and central hypothyroidism

Diagnosis with methylation analysis

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55
Q

Hallucinogen ingestion

A

Euphoria, tachycardia, hypertension, nausea, dizziness, weakness, vomiting, diarrhea

Acts on serotonin receptors = risk for serotonin toxicity

Supportive treatment

Not physiologically dependent

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56
Q

Lab findings in TLS (the the problems associated with them)

A

High K
High Phos
Low Ca (due to phos binding)
High Uric Acid

Cardiac dysrhythmias
Renal dysfunction due to uric acid and calcium phosphate crystals

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57
Q

Organophosphate toxicity

A 
Bradycardia 
Miosis (SMALL pupils)
Lacrimation
Salivation
Bronchospasm
Urination
Emesis and diarrhea

Bind to acetylcholinesterase, leading to acetylcholine excess at the neuronal synapse and neuromuscular junction

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58
Q

Extra-renal chloride losses (low urine chloride)

A

Pyloric stenosis
NG tube suction
Cystic fibrosis

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59
Q

Renal causes of chloride loss (high urine chloride)

A

Bartter syndrome
Gitelman syndrome
Loop or thiazide diuretic

  • Primary hyperaldosteronism
  • Liddle syndrome
  • Cushing syndrome

*will also see HTN

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60
Q

Sarcoidosis

A

Noncaseating granulomas

Lungs, skin, eyes and lymph nodes affected

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61
Q

Juvenile Myoclonic Epilepsy

A

Combo of myoclonic jerks, generalized tonic-clonic and/or absence seizure

Common early in am

Triggered by fatigue, flashing lights, alcohol and stress

Lifelong epilepsy; required antiepileptic meds

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62
Q

Benign focal epilepsy of children (ie benign rolandic0

A

Presents at 5-10 years
Focal, occur during sleep
Often secondarily generalize
Often outgrown by teens, normally no need for meds

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63
Q

Symptoms of adrenal insufficiency

A 
Abdominal pain 
Fatigue 
Hypoglycemia 
Hyponatremia 
Metabolic acidosis 
Nausea
Vomiting
Wt loss
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64
Q

Extraintestinal symptoms in Celiac disease

A 
Anemia
Dermatitis herpetiformis
Dental enamel hypoplasia 
Recurrent aphthous ulcers
Arthritis/Arthralgia 
Headache
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65
Q

Opsoclonus-myoclonus-ataxia

A

Autoimmune or paraneoplastic syndrome
“dancing eye” movements + intermittent myoclonic jerks + ataxia

Seen in neuroblastoma or as a post-viral autoimmune condition

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66
Q

Renal AKI; Types

A
  • Glomerular injury as occurs in acute glomerulonephritis
  • Tubular injury as occurs in acute tubular necrosis (ATN) resulting from medications or toxins
  • Interstitial injury as occurs in acute interstitial nephritis
  • Vascular injury as occurs in hemolytic uremic syndrome
67
Q

Adverse effects of ketogenic diet

A

Constipation
Emesis
Hyperlipidemia
Kidney stones

68
Q

Juvenile Ankylosing Spondylitis

A 
HLA-B27 
Radiographic evidence of bilateral sacroiliitis 
Anterior uveitis 
Rheumatoid factor negative 
Anti DS-DNA and ANA usually negative
69
Q

What are the encapsulated bacteria

A

“Some Nasty Killers Have Serous Capsule Protection”

Strep pneumo (and GBS)
Neisseria meningitides 
Klebsiella 
H. flu type B 
Salmonella typhi 
Cryptocuccus (fungi)
Pseudomonas
70
Q

Treatment for urea cycle disorder (metabolic emergency)

A

Treat hyperammonemia with:

  1. Dialysis with hemofiltration
  2. IV arginine hydrochloride and nitrogen scavenger durgs

Restrict protein for 12-24 hours

71
Q

Medications that can worsen Myasthenia Gravis symptoms

A

Fluoroquinolones
Aminoglycosides
Magnesium
Beta blockers

72
Q

Acyanotic heart defect; Left to Right shunting

A

ASD
VSD
Atrioventicular septal defects
PDA

Oxygenated blood returns to lungs -> more blood comes back to Left side, leading to enlargement (except in ASD, where R. ventricle is enlarged)

73
Q

Zellweger syndrome

A

Peroxisomal biogenesis disorder
Screen for with serum very-long-chain-fatty acids
Present in neonatal period: hypotonia, poor feeding, dysmorphic facies, seizures, liver cysts, bony stippling in long bones

No metabolic crisis; rather are neurodegenerative. Die by 1 year

74
Q

Chronic Granulomatous Disease

A

X-linked

dihydroxy-rhodamine123 reduction

75
Q

Congenital Toxo

A

At birth: hydrocephalus, cerebral calcifications, chorioetinitis (retina), rash, hepatosplenomegaly, cytopenia, pneumonia

Later: ID, visual and hearing impairment

Testing: PCR or infant blood, urine and CSF

Treatment: Pyrimethamine, Sulfadiazine and folinic acid and Prednisone if chorioetinitis of CSF infection

Treat asymptomatic 3 months, symptomatic 12 months

76
Q

Idiopathicpulmonary hemorrhage

A

Repeated episodes of pulmonary infiltrate and anemia without any infection

Maybe milk allergy associated?

There is no way they will test on this, right?

77
Q

Cri du Chat syndrome

A 
5p deletion 
High pitched cry
Small head 
Epicanthal folds 
Micrognathia 
Broad nasal brdige
DD/ID
78
Q

Clinical and laboratory findings in portal hypertension

A

HSM or isolated splenomegaly with a small, hard liver
Palmar erythema
Spider angiomata
Ascites

Elevated transaminase levels
Thrombocytopenia or pancytopenia

79
Q

Symptoms of adrenal insufficiency

A 
Abdominal pain 
Fatigue 
Hypoglycemia 
Hyponatremia 
Metabolic acidosis 
Nausea
Vomiting
Wt loss
80
Q

What causes Hyponatremia in primary vs secondary adrenal insufficiency?

A

Primary: Hyponatremia caused by mineralocorticoid deficiency

Secondary (ACTH deficiency): Hyponatremia caused by water retention

*NOTE: Hyperkalemia is seen in primary adrenal insufficiency 2/2 the mineralcorticoid deficiency but NOT seen in secondary insufficiency because the renin-angiotensin-aldosterone system remains intact)

81
Q

Menkes disease

A

Copper transport disorder

infants appear normal, then developmental regression at 2-3months

FTT
Seizures
Low tone
Kinky and hypopigmented hair
Death by 3yo

Labs show low copper and ceruloplasmin levels

82
Q

Myotonic dystrophy type 1

A

Autosomal dominent trinuleotide repeat disorder (DMPK gene)

Muscle weakness
Cardiac conduction abnormalities
Posterior subcapsular cataracts
Sustained muscle contractions

Notable at birth

83
Q

What is Fomepizole

A

A competitive agonist of alcohol dehydrogenase (prevents the metabolism of methanol to formic acid, which is the worse of the metabolites)

This is an antidote for methanol or ethylene glycol poisoning

84
Q

Clinical presentaion of urea cycle disorder

A 
Decompensation in the first 24-72 hours of life
Respiratory alkalosis
Obtundation
Hyperammonemia
Normal anion gap

Causes by absence or only partial functioning of 1 of the first 4 enzymes used to break down nitrogen (urea cycle). Nitrogen build up -> accumulates into ammonia

85
Q

Types of Urea cycle disorders

A

Carbamoyl phosphate synthetase I deficiency (Low/undetectable orotic acid in urine)

Ornithin transcarbaylase deficiency (OTC) deficiency (X link recessive, very high orotic acid in urine)

Citrullinemia type I

Argininosuccinic aciduria

Arginase deficiency

86
Q

Treatment for urea cycle disorder (metabolic emergency)

A

Treat hyperammonemia with:

  1. Dialysis with hemofiltration
  2. IV arginine hydrochloride and nitrogen scavenger durgs

Restrict protein for 12-24 hours

87
Q

Maple syrup urine disease

A

Elevated branched chain amino acid levels (isoleucine, leucine and valine)
Ketonuria
Poor feeding in the few days after birth

Treat with dietary leucine restriction and isoleucine and valine supplementation

88
Q

PKU

A

Autosomal recessive
Inborn error of metabolism of dietary intolerance of phenylalanine
Normal newborn period (so NBS is important!)

Later signs: ID/ASD, epilepsy, musty body odor, ezcema, decreased hair and skin pigmentation

89
Q

Zellweger syndrome

A

Peroxisomal biogenesis disorder
Screen for with serum very-long-chain-fatty acids
Present in neonatal period: hypotonia, poor feeding, dysmorphic facies, seizures, liver cysts, bony stippling in long bones

No metabolic crisis; rather are neurodegenerative. Die by 1 year

90
Q

Toxoplasma gondii

A

Obligate intracellular parasite

Most kids asymptomatic; may have lymphadenopathy or Mono-like sx

Severe cases of pneumonia, myocarditis, encephalitis

Latent infections do not need treatment; may need future ppx if pt becomes immunocrompromised

Treatment for symptomatic or congenital infection only.

Tx: Pyrimethamine, Sulfadiazine and folinic acid (if CNS involvement in neonate, add Prednisone)

91
Q

Congenital Toxo

A

At birth: hydrocephalus, cerebral calcifications, chorioetinitis (retina), rash, hepatosplenomegaly, cytopenia, pneumonia

Later: ID, visual and hearing impairment

Testing: PCR or infant blood, urine and CSF

Treatment: Pyrimethamine, Sulfadiazine and folinic acid and Prednisone if chorioetinitis of CSF infection

Treat asymptomatic 3 months, symptomatic 12 months

92
Q

Idiopathicpulmonary hemorrhage

A

Repeated episodes of pulmonary infiltrate and anemia without any infection

Maybe milk allergy associated?

There is no way they will test on this, right?

93
Q

21-hydroxylase deficiency

A

Most common cause of 46XX disorder of sexual differentiation

Defect in adrenalglucocorticoid and mineralcortocoid production -> elevated ACTH -> adrenals make excess androgen -> virillization of female fetus

Salt wasting

Male will appear normal until salt wasting crisis

Diagnose with 17-hydroxyprogesterone level (intermediate, will build up in 21-HD deficiency)

94
Q

Clinical and laboratory findings in portal hypertension

A

HSM or isolated splenomegaly with a small, hard liver
Palmar erythema
Spider angiomata
Ascites

Elevated transaminase levels
Thrombocytopenia or pancytopenia

95
Q

Legg-Calve-Perthes disease

A

Idiopathic interruption of blood supply to femoral head epiphysis -> avascular necrosis

usually boys 6-8 yrs

Pts should be made non weight baring and be seen by ortho. Older kids with evidence of femoral head extrusion may need surgery

96
Q

MELAS

A

Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes

Childhood onset of myopathy, seizures, vomiting, HA and Sensorneural hearing loss

Stroke-like episodes associated with periods of regression

Laboratory evidence of lactic acidosis

97
Q

Menkes disease

A

Copper transport disorder

infants appear normal, then developmental regression at 2-3months

FTT
Seizures
Low tone
Kinky and hypopigmented hair
Death by 3yo

Labs show low copper and ceruloplasmin levels

98
Q

Myotonic dystrophy type 1

A

Autosomal dominent trinuleotide repeat disorder (DMPK gene)

Muscle weakness
Cardiac conduction abnormalities
Posterior subcapsular cataracts
Sustained muscle contractions

Notable at birth

99
Q

Parameters for starting insulin in T2DM

A

BG >250

A1c >8.5

100
Q

Effects of Milrinone

A

Positive inotrope
Causes peripheral vasodilation
Can exacerbate diastolic hypotension
Long half life; need loading dose

*NOT good for early septic shock

101
Q

Nitroprusside

A

Peripheral vasodilator

Reduces afterload

102
Q

Pressors for “warm shock”

A 
Vasoconstriction:
Norepi 
Vasopresin 
High dose Epi
High dose Dopamine
103
Q

Pressors for “cold shock”

A

Vasodialation:
Low-dose Epi
Low-dose Dopamine or dobutamine

104
Q

Russel-Silver Syndrome

A 
Growth retardation 
Mcrocephaly 
Large fontanelle
Blue sclera 
Triangular face 
Limb asymmetry 
Hypoglycemia in infants and toddlers
105
Q

Klippel-Feil Anomaly

A

Short, webbed neck
Cervical vertebral fusion
May be associated with hearing loss, laryngeal deformities, congenital heart disease, rib andomalies upper limb defects, GU abnormalities

106
Q

Klinefelter Syndrome

A 
XXY 
Tall, thin but with female body shape
Scant facial and pubic hair 
Hypogonadism, infertility 
Mild developmental delay 
Increased gynecomastia, increased risk for breast cancer
107
Q

Angelman Syndrome

A

Microcephaly, broad mouth, large jaw, seizures, ataxia, “puppet like” gait, inappropriate laugher

loss of maternal 15q11 component

108
Q

22q11.2 Deletion Syndrome (CATCH 22)

A 
Includes DiGeorge Syndrome 
Cardiac defects (Tetrology of Fallot) 
Abnormal facies 
Thymic hypoplasia 
Hypocalcemia 
Developmental delay

Embryonic defect is the underdevelopment of the fourth branchial arch and third and fourth pharyngeal pouches

109
Q

Precocious Puberty

A

Bone age advanced

CPP: physical maturation occurs more rapidly
Brisk rise in FSH and LH

PPP: No rise in LH and FSH

110
Q

Central Precocious Puberty -causes

A 
Idiopathic
CNS lesion
Hypothalamic hamartoma
Tumors (neurofibroma, craniopharyngioma), Malformations (septooptic dysplasia, hydrocephalus, arachnoid cyst) 
Infection (brain abscess) 
Trauma (surgery, irradiation, injury)
111
Q

Peripheral Precocious Puberty - causes

A 
Congenital adrenal hyperplasia 
Ovarian cysts 
Autonomous (McCune-Albright) 
Exogenous hormones 
Severe primary hypothyroidism 
Adrenal or gonadal tumors
112
Q

What does DHEA-S level tell you

A

Marker for adrenarche (level appropriate for Tanner stage) and for the presence of adrenal tumors (markedly elevated)

113
Q

Delayed puberty

A

14 years in boys and 12 years in girls

Constitutional growth delay
Hypopituitarism 
Multiple pituitary trophic hormone deficiencies 
Kallmann Syndrome
Chronic illness 
Malnutrition
Hypothyroidism 
Hyperprolactinemia 
Turner Syndrome 
Klinefelter Syndrome 
Gonadal failure
114
Q

Primary vs Secondary Adrenal Insufficiency - ACTH level

A

Primary: High

Secondary: Low

115
Q

Primary vs Secondary Adrenal Insufficiency - Mineralcorticoid Deficiency

A

Primary: Present

Secondary: Absent

116
Q

Primary vs Secondary Adrenal Insufficiency - Hyponatremia

A

Primary: Present (due to mineralcorticoid deficiency)

Secondary: Present (due to water retention)

117
Q

Primary vs Secondary Adrenal Insufficiency - Hyperkalemia

A

Primary: Present (secondary to mineralcorticoid deficiency)

Secondary: Not a feature

118
Q

Lemirre Syndrome

A

Jugular vein septic thrombophlebitis with infection of Fusobacterium necrophorum

Typically follows pharyngitis but can also be seen in other head/neck pathologies

119
Q

What happens in rapid correction of Hyponatremia?

A

Central pontine myelinolysis because of the movement of fluid from brain cells to the extracellular fluid compartment.

120
Q

What happens in rapid correction of Hypernatremia?

A

Cerebral edema because of movement of fluid into the brain cells

121
Q

Pre-Renal AKI laboratory findings

A

Urine specific gravity is greater than 1.020
Urine sodium level is less than 10 mEq/L
FENa is less than 1%
Urine to plasma osmolality is greater than 1.5
BUN to creatinine ratio of 20:1

122
Q

Renal AKI laboratory findings

A

Urine is dilute with specific gravity below 1.010
Urine sodium level is greater than 40 mEq/L
FENa is greater than 2%
Urine to plasma osmolality is less than 1.5.
BUN to creatinine ratio of 10:1 to 15:1

123
Q

Homocystinuria

A

Amino acid disorder
Also known as cystathionine B-synthase deficiency
Increase in total plasma homocysteine level
Marfanoid habitus
Eye findings (severe myopia and risk of downward lens dislocation)
Intellectual/Developmental disability
Vascular thromboembolic events

Treat with methionine-restricted diet, and supplementation with B6, B12 and folate

124
Q

Reiter Syndrome

A

Postinfectious arthritis, conjunctivitis, urethritis

Occurs ~1-6 weeks after infection

Association with HLA-B27

Typical organisms: N. gonorrheoeae, Shigella, Salmonella, Yersinia, Campylobacter, Strep pyogenes

Treat with ibuprofen

125
Q

Tuberous Sclerosis

A

Associated with infantile spasms
Ash leaf spots, shagreen patches, cafe au lait spots
Subungal fibromas, adenoma sebaceum, cardiac rhabdomyoma
Epilepsy, DD, intracranial calcifications
Autosomal dominant, mutation in tuberin or hamartin genes

126
Q

Sturge-Weber Syndrome

A

Port wine stain in CN VI distribution
Seizures, glaucoma, DD, Leptomeningeal angiomas, intracerebral calcifications
Not heritable, sporadic only

127
Q

Types of Nephrotic Syndrome

A

Minimal Change Disease
FSGS
MPGN

128
Q

Minimal Change Disease

A 
Typically preschool boys 
Can also see hematuria (microscopic) 
HTN
Elevated Cholesterol levels 
Mild Cr elevation 
Responds to STEROIDS 
Relapse common, but overall prognosis good 
Complications: Peritonitis (strep, e coli) and vascular thrombus (when actively nephrotic ie hypercoaguable state)
129
Q

Focal Segmental Glomerulosclerosis

A

Most likely when pts don’t respond to minimal change disease treatment
Differentiate by histology;
Poor prognosis, chronic renal failure likely
Tx cyclosporine and high dose methylpred

130
Q

Membranoproliferative Glomerulonephritis

A 
More common in girls >8yrs 
Hematuria and HTN common 
C3 is LOW 
Perform renal bx before starting tx!!! High dose steroid can lead to malignant HTN 
Low dose pred for years
131
Q

Compliment trends in Post Strep vs SLE vs IgA nephritis

A

*Post Strep Glomerulonephritis: C3 LOW C4 normal
**SLE: C3 and C4 LOW (consumptive process)
IgA: C3 and C4 NORMAL

  • anti dsDNA positive
  • *ANA positive
132
Q

Signs/Symptoms of acute opiate exposure

A 
Coma
Pinpoint pupils 
Resp depression 
Pulmonary edema 
Bradycardia 
Hypotension 
Hypothermia
133
Q

Signs/Symptoms of acute Hallucinogenic exposure

A 
Disorientation 
Hyperactive bowel sounds 
Panic 
Seizures 
Tachycardia 
Tachypnea
134
Q

Signs/Symptoms of acute Cholinergic drug exposure

A 
Confusion 
Diaphoresis 
Diarrhea 
Emesis 
Lacrimation 
Miosis 
Muscle fasciculation
Salivation 
Seizure 
Urination 
Weakness 
Bradycardia 
Hypotermia 
Tachypnea
135
Q

Signs/Symptoms of acute Sedative drug exposure

A 
Ataxia
Blurred vision 
Deterioration of CNS 
Nystagmus 
Sedation etc 
Paradoxical seizure
136
Q

Signs/Symptoms of acute Sympathomimetic drug exposure

A 
Anxiety 
Delusions/Paranoia  
Diaphoresis
Mydriasis  
Hyperreflexia 
Piloerections
Seizure 
HTN
Tachycardia

(stimulate alpha-1 adrenergic receptors, beta-adrenergic receptors and dopamine (D) receptors ie clonidine, albuterol

137
Q

Possible complications of EBV

A

Hematologic : Hemolytic anemia, Thrombocytopenia, Aplastic anemia, DIC, HLH

Neurologic: Meningitis, Optic Neuritis, facial nerve palsy, transverse myelitis, Ghuillain-Barre

Splenic rupture
Upper airway obstruction
Myocarditis

138
Q

Galactosemia

A

Deficiency of enzyme activity/Impaired liver function resulting in high blood galactose

Presents in first few days of life
E coli sepsis can be seen
Labs abnormalities: Hyper bili, abnormal LFTs, coagulopathy, metabolic acidosis, presence of urine reducing substances
Cataracts, resolve if lactose-free formula started quickly

139
Q

Coccidioidomycosis

A

Fungal infection
San Joaquin Valley
Fever, cough , night sweats, weight loss
Pulmonary consolidation, paratracheal and hilar adenopathy and spinal lytic lesion

Test with serology (follow up with CT, urine antigen testing and/or tissue bx if inconclusive)

140
Q

Symptoms of kernicterus

A 
Decreased muscle tone 
Absent Moro
Poor suck 
High pitched cry
Seizures

If prolonged/chronic, can develop hypotonia, hearing loss, choreoathetosis

141
Q

NF1 vs NF 2

A

NF2 presents later in life with bilateral schwannomas. Can also have meningiomas, astrocytomas, and mononeuropathy

NF2 will have posterior subcapsular lens opacity, while NF 1 has lisch nodules

142
Q

CHARGE Association

A

Coloboma, Heart anomalies, choanal Atresia, Retarded growth/development, Genital and Ear anomalies

143
Q

JIA

A

ANA positive, typically (if positive, increased risk for anterior iritis)
Articular swelling and effusion
At least 6 weeks
Morning stiffness

144
Q

HSP symptoms

A 
Purpura 
Arthalgias
Abdomain pain/Diarrhea/GI bleeding
Renal involvement (hematuria)
Edema 
Encephalopathy 
Orchitis

Often occurs after URI,
Nephritis appears the same as IgA nephropathy on pathology

145
Q

Beckwith Wiedemann

A

Macroglossia, hypoglycemia from pancreatic islet cell hyperplasia, may present with omphalocele.

Increased cancer risk: Wilms tumor, hepatoblastoma, neuroblastoma, and adrenocortical carcinoma. (Cancer screen with alphafetoprotein level)

146
Q

Protein : Creatinine ratio in nephrotic syndrome

A

0.2 - 2

<0.2 is normal

147
Q

Anticholenergic Toxicity symptoms, and what do you do about it?

A 
Hot as a hare
Mad as a hatter 
Dry as a bone
Red as a beet 
Also have rigidity, mydriasis, QT prolongation

Treat with Lorazepam!

148
Q

Serotonin Syndrome Symptoms

A

muscle rigidity, hyperpyrexia, hyperreflexia, and central nervous system depression

Can differentiate from anticholenergic poisoning because SS has predominant GI symptoms

149
Q

Congenital Rubella

A

microcephaly, cataracts, sensorineural deafness, peripheral pulmonic stenosis, and radiolucent bone lesions. Calcifications can be seen on head imaging

150
Q

Congenital Toxo

A

X

151
Q

How is testosterone converted to Dihydrotestosterone (DHT)?

A

5alpha reductase

152
Q

What is the role of Dihydrotestosterone (DHT)?

A

Virializing the external genitalia (penile length, fusion of labioscrotal folds, migration of urethra to tip of penis)

153
Q

What are the lab findings in rickets

A

Very elevated alk phos

+/- low phos

154
Q

Role of DHEA in evaluating puberty

A

DHEA is elevated in precocious puberty
It comes from the adrenals
Is a marker of androgen production

155
Q

Cardiac findings of neonates born to mother with GDM

A

Cardiomegaly
Asymmetric septal hypertrophy -> ( Tachycardia, poor cardiac function -> treat with Beta Blocker)
Cardiac failure

156
Q

What bacteria is associated with Lemierre Syndrome

A

Fusobacterium necorphorum

157
Q

Treatment of rheumatic fever

A

Aspirin

Penicillin

158
Q

Chronic Granulomatous Disease

A

X linked and autosomal recessive
Defects in cytochrome P450 system or NADPH system
Inability to kill engulfed cells that produce catalase (ie Staph aureus)
Recurrent skin and deep tissue abcesses
Fungal osteomyelitis
Pneumonia
Septicemia
Adenopathy and HSM
Nitrobue tetrazolium dye reduction and HDR assay

159
Q

Chediak-Higashi Syndrome

A

Defective granulocyte functions

Recurrent staph infections Associated with albinism

160
Q

Leukocyte adhesion deficiency

A

Recurrent staph infections
No pus at site of infections
History of delayed separation of umbilical cord

161
Q

Immunodeficiency associated with Neisseria infections

A

Deficiencies in C5, C6, C7 and C8

162
Q

X-linked agammaglobulinemia aka Bruton

A

X linked
Recurrent, severe pyogenic infection of respiratory tract, bloodstream, meninges and deep tissues
Presents at 4-8 months of age
All levels of immunoglobulins, very few B cells in bloodstream
Sparse lymphoid tissue

163
Q

X-linked hyper IgM syndrome

A

IgM levels are elevated
IgA, IgG or IgE response do not take place
Inefficient antibody productions
Defect is in the T lymphocyte

164
Q

Wiskott Aldrich Syndrome

A

X-linked
Partial deficiency in both the antibody and cell mediated immune system
Eczema + Severe thrombocytopenia purpura + Recurrent infections
Splenectomy often needed

Pediatrics Board Review (1 decks)

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