Brainscape's Knowledge GenomeTM

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


See full index

C TO REVISE - PHASE 3A > PAEDS - ONCOLOGY/HAEM AND GENETICS/ENDOCRINE > Flashcards

PAEDS - ONCOLOGY/HAEM AND GENETICS/ENDOCRINE Flashcards

1
Q

FANCONI SYNDROME
What is fanconi syndrome?

A
  • Generalised reabsorptive disorder of renal tubular transport in the PCT resulting in…
    – Type 2 (proximal) renal tubular acidosis
    – Polydipsia, polyuria, aminoaciduria + glycosuria
    – Osteomalacia/rickets
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

FANCONI SYNDROME
What are some causes of fanconi syndrome?

A
  • Usually secondary to inborn errors of metabolism
    – Cystinosis (AR > intracellular accumulation of cysteine, most common)
    – Wilson’s disease, galactosaemia, glycogen storage disorders
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

ANAEMIA OVERVIEW
What are some causes of decreased red cell production?
What are some clues?

A
  • Ineffective erythropoiesis (Fe, folate deficiency, CKD)
  • Red cell aplasia
  • Normal reticulocytes, abnormal MCV in nutrient deficiencies
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

ANAEMIA OVERVIEW
What are some causes of haemolysis?
What are some clues?

A
  • G6PD deficiency, haemoglobinopathies, hereditary spherocytosis
  • Raised reticulocytes, abnormal appearance on blood films, +ve direct antiglobulin test if immune cause
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

ANAEMIA OVERVIEW
How does haemolysis cause anaemia?
What is the difference in haemolytic anaemias in neonates + children?

A
  • Red cell survival reduced significantly but bone marrow production increases too, anaemia = bone marrow cannot compensate
  • Neonates = immune haemolytic anaemias, children = instrinsic abnormalities (G6PD)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

ANAEMIA OVERVIEW
List 4 features of haemolytic anaemias

A
  • Anaemia
  • Hepatosplenomegaly
  • Unconjugated bilirubinaemia
  • Excess urinary urobilinogen
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

ANAEMIA OVERVIEW
What are some causes of anaemia in the neonate?

A
  • Reduced RBC production = congenital red cell aplasia + congenital parvovirus infection > red cell aplasia
  • Haemolytic anaemia = immune (haemolytic disease of newborn) or hereditary (G6PD etc)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

ANAEMIA OVERVIEW
What are the main causes of anaemia of prematurity?

A
  • Inadequate erythropoietin production
  • Reduced red cell lifespan
  • Frequent blood sampling whilst in hospital
  • Iron + folic acid deficiency after 2-3m.
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

IRON DEF ANAEMIA
What are some sources of iron?
What can affect iron absorption?

A
  • Breast milk, formula, cow’s milk or weaning (cereals)
  • Markedly increased when eaten with food rich in vitamin C + inhibited by tannin in tea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

IRON DEF ANAEMIA
What is…

i) transferrin saturation?
ii) total iron binding capacity?

A

i) Proportion of transferrin bound to iron
ii) Total space on transferrin for Fe to bind

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

IRON DEF ANAEMIA
What are some side effects of treatment with oral iron supplementation?

A
  • Constipation
  • Black coloured stools
  • Nausea
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

SICKLE CELL DISEASE
What is the pathophysiology of sickle cell disease?
How does it arise?

A
  • Abnormal variant (haemoglobin S) which polymerises to be an abnormal sickle (crescent) shape + so more fragile + easily destroyed > haemolytic anaemia
  • Amino acid substitution (glutamine > valine)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

SICKLE CELL DISEASE
What is the genetics behind sickle cell disease?

A
  • Autosomal recessive
  • Abnormal gene for beta-globin on C11
  • Heterozygous = sickle-cell trait
  • Homozygous = sickle cell disease (HbSS)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

SICKLE CELL DISEASE
What is acute chest syndrome?
What can cause it?
Management?

A
  • Fever or resp Sx (CP, tachypnoea) with new infiltrates on CXR
  • Can be due to infection (pneumonia, bronchiolitis) or non-infective (pulmonary vaso-occlusion or fat emboli)
  • Emergency > Abx or antivirals, blood transfusions for anaemia, may need NIV or intubation
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

SICKLE CELL DISEASE
Name 2 other vaso-occlusive crises

A
  • ‘Hand-foot syndrome’ common leading to dactylitis
  • Priapism in men > urological emergency, aspiration
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

SICKLE CELL DISEASE
Sickle cell disease may present with acute anaemia (sudden drop in Hb).
What can cause this?

A
  • Haemolytic crises (sometimes with associated infection)
  • Aplastic crises (parvovirus causes cessation of RBC production)
  • Sequestration crises
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

SICKLE CELL DISEASE
What is a sequestration crisis?
What is the management?

A
  • Sudden hepatic or splenic enlargement, abdo pain + circulatory collapse from accumulation of sickled cells blocking blood flow
  • Supportive = blood transfusions, fluid resus, splenectomy can prevent this + used in recurrent crises as can lead to splenic infarction > increased infection susceptibility
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
18
Q

SICKLE CELL DISEASE
What are some investigations for sickle cell disease?

A
  • Prenatal Dx via CVS
  • Detection via Guthrie test
  • FBC = low Hb, high reticulocytes
  • Blood film = sickled RBCs
  • Dx with Hb electrophoresis showing high amounts of HbSS + absent HbA
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

SICKLE CELL DISEASE
What are some complications of sickle cell disease?

A
  • Short stature + delayed puberty
  • Stroke + cognitive issues
  • Pulmonary HTN
  • Chronic renal failure
  • Psychosocial issues
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
20
Q

SICKLE CELL DISEASE
What is the general management for sickle cell disease?

A
  • Fully immunised (PCV, HiB, meningococcus)
  • Avoid vaso-occlusive crisis triggers
  • PO phenoxymethylpenicillin prophylaxis
  • PO folic acid as increased demands due to haemolysis
  • Hydroxycarbamide + hydroxyurea can stimulate HbF production to prevent painful crises
  • Bone marrow transplant curative + offered if failed response
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

SICKLE CELL DISEASE
What is the management of an acute crisis?

A
  • PO or IV analgesia according to need (?opiates)
  • IV fluids, oxygen
  • Infection treated with Abx, blood transfusion for severe anaemia
  • Exchange transfusion if severe (e.g. neuro complications)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
22
Q

THALASSAEMIA
What is thalassaemia?
Consequence?
What are the 2 types?

A
  • AR disorder arising from ≥1 gene defects, resulting in a reduced rate of production of ≥1 globin chains
  • RBCs more fragile + breakdown easily
  • Alpha = defect in alpha globin chains
  • Beta = defect in beta globin chains
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
23
Q

THALASSAEMIA
What is a complication of beta-thalassaemia major which isn’t common in developed countries?

A
  • Extramedullary haematopoiesis can occur if no regular blood transfusions
  • Leads to hepatosplenomegaly + bone marrow expansion leading to maxillary overgrowth + skull bossing
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

THALASSAEMIA
What are some investigations for beta thalassaemia?

A
  • FBC + blood film = hypochromic microcytic anaemia
  • HbA2 raised in beta-thalassaemia trait, HbA2 + HbF raised in major
  • Serum ferritin to differ between Fe anaemia + check iron overload
  • Hb electrophoresis for Dx
  • DNA testing via CVS before birth
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
Q

THALASSAEMIA
What is the main complication of thalassaemia?
How might this present?

A
  • Repeated + Regular blood transfusions can cause chronic iron overload
  • Heart (cardiomyopathy, heart failure)
  • Liver (cirrhosis)
  • Pancreas (diabetes)
  • Pituitary (delayed growth + sexual maturation)
  • Skin (hyperpigmentation)
  • Arthritis + joint pain
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
26
Q

THALASSAEMIA
What is the management of thalassaemia?

A
  • Lifelong monthly blood transfusions for the most severe cases
  • Desferrioxamine for iron chelation to prevent overload
  • Bone marrow transplant can be curative, reserved for beta thalassaemia major
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
27
Q

HAEMOPHILIA
What are some investigations for haemophilia?

A
  • FBC + blood film
  • Prothrombin time (factors 2, 5, 7, 10, extrinsic) normal
  • Activated partial thromboplastin time (intrinsic) = greatly increased
  • Severity dependent on amount of FVIII:C or FIX:C levels
  • Prenatal Dx with CVS
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
28
Q

HAEMOPHILIA
What is the management of haemophilia?

A
  • IV infusion of recombinant FVIII or FIX concentrate if active bleeding (or prophylactic to reduce arthropathy risk)
  • Desmopressin stimulates vWF release for bleeding/prevention, TXA
  • AVOID aspirin, NSAIDs + IM injections (can worsen bleeding)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
29
Q

HAEMOPHILIA
What is a complication of the treatment for haemophilia?

A
  • Formation of antibodies against the clotting factor can render it ineffective
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
30
Q

VON WILLEBRAND DISEASE
What is the physiological role of von Willebrand factor?

A
  • Facilitates platelet adhesion to damaged endothelium
  • Acts as carrier protein for FVIII:C, protecting it from inactivation + clearance
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
31
Q

VON WILLEBRAND DISEASE
What is von Willebrand disease (vWD)?
What causes it?
Types?

A
  • Deficiency of vWF leading to defective platelet plug formation + deficient FVIII:C > most common inherited bleeding disorder
  • AD, type 1 most common + mildest
  • Severity increases with type 2, type 3 has very low or no vWF (AR)
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
32
Q

VON WILLEBRAND DISEASE
What are some investigations for vWD?

A
  • FBC (normal platelets) + blood film, biochemical screen including renal + liver function
  • Prolonged bleeding time
  • Prothrombin time normal
  • APTT = elevated or normal
  • vWF antigen decreased, vWF multimers variable
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
33
Q

VON WILLEBRAND DISEASE
What is the management of vWD?

A
  • Pressure applied if active bleeding
  • Minimise bleeding with desmopressin or TXA
  • Severe = plasma derived FVIII concentrate or vWF infusion
  • AVOID aspirin, NSAIDs + IM injections as can worsen bleeding
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
34
Q

VON WILLEBRAND DISEASE
How is desmopressin given?
What does it do?

A
  • Nasal or s/c
  • Release of vWF + FVIII concentrate
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
35
Q

COAGULATION DISORDERS
What are acquired disorders of coagulation?

A

Secondary to

  • Haemorrhagic disease of the newborn due to vitamin K deficiency
  • Liver disease as location of clotting factor production
  • ITP + DIC
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
36
Q

COAGULATION DISORDERS
What can cause vitamin K deficiency?

A
  • Inadequate intake = neonates, long-term chronic illness
  • Malabsorption = coeliac, cystic fibrosis
  • Vitamin K antagonists = warfarin
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
37
Q

ITP
What is immune thrombocytopenic purpura (ITP)?

A
  • Commonest cause of thrombocytopenia in childhood
  • T2 hypersensitivity reaction with destruction of circulating platelets by anti-platelet IgGs
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
38
Q

ITP
What is the management of ITP?

A
  • Often acute + self-limiting
  • Severe bleeding may need prednisolone, IVIg, blood/platelet transfusions
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
39
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what is the management in utero?

A
  • transfusion of O negative packed cells cross-matched with maternal blood at 16-18 weeks
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
40
Q

HAEMOLYTIC DISEASE OF THE NEWBORN
what are the complications?

A
  • kernicterus which can cause extrapyramidal, auditory and visual abnormalities and cognitive deficit
  • late-onset anaemia
  • graft-versus-host disease
  • portal vein thrombosis + portal hypertension
How well did you know this?
1
Not at all
2
3
4
5
Perfectly
41
Q

ALL
What do blood and bone marrow tests show in ALL?

A

FBC and blood film = WCC usually high
Blast cells on film and in bone marrow

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

HODGKINS LYMPHOMA
What blood results may you see in someone with Hodgkin’s lymphoma?

A
  • high ESR
  • FBC = anaemia (normochromic normocytic)
  • reed sternberg cells
  • low Hb
  • high serum lactase dehydrogenase
43
Q

NON-HODGKINS LYMPHOMA
What are the signs and symptoms of non-hodgkins lymphoma?

A

Fever and sweating
Enlarged rubbery non-tender nodes
Systemic ‘B’ symptoms, e.g. fever
GI and skin involvement

44
Q

AML
what are the clinical features of AML?

A

Anaemia -> breathlessness, fatigue, pallor
Infection
Hepatosplenomegaly
Peripheral lymphadenopathy
Gum hypertrophy
Bone marrow failure and bone pain

45
Q

AML
What would you expect to see on an FBC and bone marrow biopsy in someone you suspect to have AML?

A

FBC = anaemia and thrombocytopenia and neutropenia

BM biopsy = leukaemic blast cells (with Auer rods)

46
Q

CML
what are the clinical features of CML?

A

Insidious onset

Symptomatic anaemia
Abdominal pain - splenomegaly
Weight loss, tiredness, palor
Gout - due to purine breakdown
Bleeding - due to platelet dysfunction

47
Q

CML
what are the investigations for CML?

A

FBC - anaemia, raised myeloid cells, high WCC (eosinophilia, basophilia, neutrophilia)
Increased B12
Blood film - left shirt, basophilia
Bone marrow biopsy - increased cellularity
Philadelphia chromosome seen in 80+% of cases  t(9;2) - Stimulates cell division

48
Q

CML
What is the treatment for CML?

A

Chemotherapy
Tyrosine kinase inhibitors, e.g. Imatinib - Given orally
Stem cell transplant

49
Q

CML
Why does the Philadelphia chromosome cause CML?

A

FORMS fusion gene BCR/ABL on chromosome 22 –> tyrosine kinase activity –> stimulates cell division

50
Q

CLL
what are the investigations for CLL?

A

● Normal or low Hb
● Raised WCC with very high lymphocytes
● Blood film – smudge cells may be seen in vitro

51
Q

CLL
What is the treatment for CLL?

A

Watch and wait
Chemotherapy
Monoclonal antibodies, e.g. rituximab
Targeted therapy, e.g. bruton kinase inhibitors (ibrutinib)

52
Q

GENETICS OVERVIEW
What is genomic imprinting + uniparental disomy?
Give an example

A
  • Most genes both copies are expressed, some genes are only maternally or paternally expressed (imprinting)
  • Prader-Willi + Angelman’s syndrome both caused by either cytogenic deletions of the same region of chromosome 15q or by uniparental disomy of chromosome 15
53
Q

GENETICS OVERVIEW
Explain the process of gonadal mosaicism

A
  • Father = mosaic sperm (some sperm with mutated gene, some sperm normal)
  • Mother = all eggs with normal gene
  • Offspring = fertilised egg > union of male DNA (sperm) with mutated gene + female DNA (egg) with normal gene
  • Every cell of embryo has one copy of mutated + one copy of normal
54
Q

TURNER’S SYNDROME
What are some complications of Turner’s syndrome?

A
  • Coarctation or bicuspid aortic valve
  • Increased risk of CHD > HTN, obesity
  • DM, osteoporosis, hypothyroidism
  • Recurrent otitis media + UTIs
  • Horseshoe kidney, susceptible to x-linked recessive conditions
55
Q

KLINEFELTER SYNDROME
What are some complications of Klinefelter syndrome?

A
  • Increased risk of breast cancer compared to other males
  • Osteoporosis
  • Diabetes
  • Anxiety + depression
56
Q

ANGELMAN’S SYNDROME
What is Angelman’s syndrome?
What is it caused by?

A
  • Genetic imprinting disorder due to deletion of maternal chromosome 15 or paternal uniparental disomy
  • Loss of function of maternal UBE3A gene
57
Q

ANGELMAN’S SYNDROME
What is the clinical presentation of Angelman’s syndrome?

A
  • “Happy puppet” = unprovoked laughing, clapping, hand flapping, ADHD
  • Fascination with water
  • Epilepsy, ataxia, broad based gait
  • Severe LD, delayed development
  • Widely spaced teeth, microcephaly
58
Q

NOONAN’S SYNDROME
What is Noonan’s syndrome?

A
  • Autosomal dominant condition with defect on chromosome 12, normal karyotype
59
Q

NOONAN’S SYNDROME
What is the clinical presentation of Noonan’s syndrome?

A
  • Short stature, webbed neck, widely spaced nipples (Male Turner’s)
  • Pectus excavatum, low set ears
  • Hypertelorism (wide space between eyes)
  • Downward sloping eyes with ptosis
  • Curly/woolly hair
60
Q

NOONAN’S SYNDROME
What are some complications of Noonan’s syndrome?

A
  • CHD = pulmonary valve stenosis
  • Cryptorchidism which can lead to infertility (fertility in women normal)
  • LDs, bleeding disorders (XI deficient)
61
Q

WILLIAM’S SYNDROME
What is William’s syndrome?

A
  • Random deletion of genetic material on one copy of chromosome 7 resulting in only single copy of genes from other chromosome 7
62
Q

WILLIAM’S SYNDROME
What is the clinical presentation of William’s syndrome?

A
  • Very friendly + sociable
  • Starburst eyes (star-pattern on iris)
  • Wide mouth, big smile + widely spaced teeth
  • Broad forehead, short nose + small chin
  • Mild LD, short stature
63
Q

WILLIAM’S SYNDROME
What are some complications of William’s syndrome?

A
  • Supravalvular aortic stenosis
  • ADHD
  • HTN + hypercalcaemia
64
Q

CONGENITAL HYPOTHYROIDISM
What is the clinical presentation of congenital hypothyroidism?

A
  • Prolonged neonatal jaundice
  • Delayed mental + physical milestones
  • Puffy face, macroglossia + hypotonia
  • Failure to thrive + feeding problems
  • Coarse facies + hoarse cry
65
Q

JUVENILE HYPOTHYROIDISM
What is associated with an increased risk of juvenile hypothyroidism?

A
  • Increased risk with Down or Turner syndrome
66
Q

PRECOCIOUS PUBERTY
What is the pathophysiology and potential causes of central precocious puberty?

A

Pathophysiology: LH++, FSH+ > oestrogen from ovary ++ or testosterone from testis ++ & adrenal +

Causes:
- Familial,
- hypothyroidism,
- CNS (neurofibroma, tuberous sclerosis)

67
Q

PRECOCIOUS PUBERTY
What causes premature pubarche (adrenarche)?
How can you tell?

A
  • Accentuation of normal maturation of androgen production by adrenal gland (adrenarche), can be late-onset CAH or adrenal tumour
  • Urinary steroid profile to help differentiate
68
Q

PRECOCIOUS PUBERTY
What are the risk factors with premature pubarche (adrenarche)?

A
  • More common in Asian + Afro-Caribbean, increased risk of PCOS later in life
69
Q

CAH
What is the clinical presentation of CAH in females?

A
  • Tall for age, facial hair, absent periods, deep voice + precocious puberty
  • Severe = virilised genitalia (ambiguous), labial fusion + enlarged clitoris
70
Q

CAH
What is the general management of CAH?

A
  • Lifelong glucocorticoids (hydrocortisone) to suppress ACTH > normal growth
  • Lifelong mineralocorticoids (fludrocortisone) if there’s salt loss, infants may need NaCl
  • Additional hydrocortisone to cover illness/surgery
  • Antenatal dexamethasone controversial treatment, risks>benefits currently
71
Q

SEXUAL DIFFERENTIATION
What are some causes of sexual differentiation disorders?

A
  • CAH (#1)
  • Congenital hypopituitarism (Prader-Willi)
  • Ovotesticular disorder of sex development (true hermaphroditism) leading to both testicular + ovarian tissues as XX + XY containing cells present
72
Q

DELAYED PUBERTY
What are some causes of hypogonadotropic hypogonadism?

A
  • Constitutional delay in growth + puberty (FHx)
  • Chronic diseases (IBD, CF, coeliac)
  • Excess stress (anorexia, intense exercise, low weight)
  • Hypothalamo-pituitary disorders (panhypopituitarism, Kallman’s + anosmia, GH deficiency)
73
Q

DELAYED PUBERTY
What are some causes of hypergonadotropic hypogonadism?

A
  • Chromosomal abnormalities (Turner’s XO, Klinefelter’s 47XXY)
  • Acquired gonadal damage (post-surgery, chemo/radio, torsion)
  • Congenital absence of the testes or ovaries
74
Q

DELAYED PUBERTY
In delayed puberty, what are some causes of…

i) short stature (delayed + short)?
ii) normal stature (delayed + normal)?

A

i) Turner’s, Prader-Willi + Noonan’s
ii) PCOS, androgen insensitivity, Kallmann’s + Klinefelter’s

75
Q

DELAYED PUBERTY
What are some investigations for delayed puberty?

A
  • FBC + ferritin (anaemia), U+E (CKD), coeliac antibodies
  • Hormonal testing
  • Genetic testing/karyotyping
  • XR wrist to assess bone age (low in constitutional delay)
  • Pelvic USS to assess ovaries + other pelvic organs
  • MRI head if ?pituitary pathology + assess olfactory bulbs (Kallmann)
76
Q

DELAYED PUBERTY
What are the hormonal tests you would do in delayed puberty?

A
  • Early morning serum gonadotropins (FSH/LH)
  • TFTs
  • GH provocation testing (insulin, glucagon)
  • IGF-1 levels
  • Serum prolactin
77
Q

PICA
what are the causes?

A
  • developmental problems e.g. autism
  • mental health problems e.g. OCD, schizophrenia
  • malnutrition or hunger
  • stress
78
Q

PICA
what are the investigations?

A
  • blood tests - anaemia, lead levels
  • stool tests - parasites
  • x-rays
79
Q

KALLMAN SYNDROME
what is it?

A

genetic disorder that can be inherited via autosomal dominant, autosomal recessive and x-linked

80
Q

KALLMAN SYNDROME
what are the clinical features?

A
  • hypogonadotropic hypogonadism
  • anosmia
  • synkinesia (mirror-image movements)
  • renal agenesis
  • visual problems
  • craniofacial anomalies
81
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the inheritance pattern?

A

x-linked recessive

82
Q

ANDROGEN INSENSITIVITY SYNDROME
what are the results of hormone tests?

A
  • raised LH
  • normal/raised FSH
  • normal/raised testosterone
  • raised oestrogen
83
Q

ANDROGEN INSENSITIVITY SYNDROME
what is the management?

A
  • bilateral orchidectomy to avoid testicular tumours
  • oestrogen therapy
  • vaginal dilators or vaginal surgery
  • generally patients are raised as female
  • offered support and counselling
84
Q

FRAGILE X SYNDROME
What causes it?

A

Trinucleotide expansion repeat of CGG caused by slipped mispairing = ≤44 normal, 60–200 = premutation carriers, >200 = fragile X

85
Q

PRECOCIOUS PUBERTY
What is the pathophysiology of pseudo precocious puberty?

A

Low LH + FSH as gonadal or extra-gonadal source leads to increased testosterone or oestrogen

86
Q

PRECOCIOUS PUBERTY
What are the causes in males?

A

Less common, more worrying
– Pituitary adenoma (bilateral testicular enlargement suggests gonadotropin release)
– CAH or adrenal tumour (small testes)
– Gonadal tumour (unilateral testicular enlargement)

87
Q

PRECOCIOUS PUBERTY
What is a genetic cause of precocious puberty?

A

McCune Albright syndrome (café-au-lait, short stature)

88
Q

CAH
What is a major risk factor?

A

Consanguineous parents

89
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of primary hypogonadism

A

Hypergonadotropic hypogonadism

Klinefelter’s Syndrome (47XXY)
Tuner’s Syndrome (45X)

90
Q

GONADOTROPIN DEFICIENCY
Give 2 causes of Hypogonadotropic hypogonadism

A
  1. Kallmann’s Syndrome
  2. Tumours - craniopharyngiomas, germinomas
91
Q

HYPOTHALAMIC TUMOURS
what are the risk factors for developing hypothalamic tumours?

A

neurofibromatosis
undergone radiation therapy

92
Q

HYPOTHALAMIC TUMOUR
what is the clinical presentation?

A
  • euphoric ‘high’ sensations
  • failure to thrive
  • headache
  • hyperactivity
  • loss of body fat and appetite
  • vision loss
  • precocious puberty
93
Q

PRECOCIOUS PUBERTY
What are the causes of pseudo precocious puberty?

A

Causes:
– Adrenal (tumours, CAH)
– Granulosa cell tumour (ovary)
– Leydig cell tumour (testicular)

94
Q

CAH
How does salt-losing crisis present?

A

– Vomiting, weight loss, floppiness + circulatory collapse
– Hyponatraemic, hyperkalaemic, metabolic acidosis, hypoglycaemic

95
Q

CAH
What is the management of salt-losing crisis?

A

IV 0.9% NaCl + dextrose,
IV hydrocortisone

96
Q

OBESITY
what are the causes of obesity in children other than lifestyle factors?

A
  • growth hormone deficiency
  • hypothyroidism
  • Down’s syndrome
  • Cushing’s syndrome
  • Prader-Willi syndrome
97
Q

OBESITY
what are the consequences of obesity in children?

A
  • orthopaedic problems: slipped upper femoral epiphyses, Blount’s disease (a development abnormality of the tibia resulting in bowing of the legs), musculoskeletal pains
  • psychological consequences: poor self-esteem, bullying
    sleep apnoea
    benign intracranial hypertension
  • long-term consequences: increased incidence of type 2 diabetes mellitus, hypertension and ischaemic heart disease
98
Q

TYPE 1 DIABETES
what is the triad of symptoms?
what other symptoms may be present?

A
  • polyuria
  • polydipsia
  • weight loss
  • secondary enuresis
  • recurrent infections
99
Q

TYPE 1 DIABETES
what are the investigations for a new diagnosis?

A
  • FBC, U+Es, glucose
  • blood cultures
  • HbA1c
  • TFTs + TPO
  • anti-TTG
  • insulin antibodies, anti-GAD + islet cell antibodies
100
Q

DKA
what is required to diagnose DKA?

A

Hyperglycaemia (i.e. blood glucose > 11 mmol/l)
Ketosis (i.e. blood ketones > 3 mmol/l)
Acidosis (i.e. pH < 7.3)

101
Q

DKA
what are the principles of DKA management in children?

A
  • correct dehydration evenly over 48hrs
  • give an initial bolus followed by ongoing fluids
  • insulin should be delayed by 1-2hrs to reduce chance of cerebral oedema
  • 0.05-0.1 units/kg/hr of insulin
102
Q

DKA
what are the different classifications of DKA?

A

Mild - pH 7.2-7.29 or bicarb <15mmol/L, dehydration = 5%

moderate - pH 7.1-7.19 or bicarb <10mmol/L, dehydration = 7%

severe - pH <7.1 or bicarb <5mmol/L, dehydration = 10%

103
Q

DKA
what fluids are given to children not in shock?

A

initial bolus - 10ml/kg 0.9% NaCl over 1 hour

ongoing fluids - 0.9% NaCl with 20mmol KCl in each 500ml bag
1. calculate fluid deficit based on % dehydration
2. subtract initial 10ml/kg bolus from this
3. add maintenance fluids

104
Q

DKA
what are the complications?

A

cerebral oedema
hypokalaemia
aspiration pneumonia
hypoglycaemia

C TO REVISE - PHASE 3A (11 decks)

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