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BPS Exam Study > Chapter 10 - Childhood/infancy diseases > Flashcards

Chapter 10 - Childhood/infancy diseases Flashcards

1
Q

Term for primary errors of morphogenesis in which there is an intrinsically abnormal developmental process

A

Malformation

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2
Q

Result from secondary destruction of an organ or body region that was previously normal in development

A

Disruption

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3
Q

Localised or generalised compression of the growing fetus by abnormal biochemical forces, leading to structural abnormalities e.g. uterine constraint

A

Deformations

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4
Q

Cascade of anomalies triggered by one initiating aberration e.g. oligohydramnios

A

Sequence

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5
Q

Constellation of congenital anomalies believed to be pathologically related and cannot be explained by a single, localising, initiating event

A

Malformation syndrome

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6
Q

complete absence of an organ and its associated primordium

A

Agenesis

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7
Q

Incomplete development or decreased size of an organ

A

Hypoplasia

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8
Q

Time in pregnancy when the embryo is extremely susceptible to teratogenesis

A

3rd - 9th weeks

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9
Q

Refers to the first 9 weeks of pregnancy

A

Early embryonic period

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10
Q

Fetal period

A

Period of pregnancy from 9 weeks to birth

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11
Q

Refers to the accumulation fo oedema fluid in the fetus during intrauterine growth

A

Fetal hydrops

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12
Q

Haemolytic disease caused by blood group antigen incompatibility between mother and fetus

A

Immune hydrops

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13
Q

3 major causes of nonimmune hydrops?

A
  • cardiovascular defects
  • chromosomal anomalies
  • fetal anaemia
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14
Q

Autosomal recessive disorder caused by a severe deficiency of the enzyme phenylalanine hydroxylase (PAH) leading to hyperphenylalaninaemia

A

Phenylketonuria (PKU)

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15
Q

Autosomal recessive disorder of galactose metabolism resulting from accumulation of galactose-1-phosphate in tissues

A

Galactosaemia

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16
Q

Most common enzyme to be affected in galactosaemia

A

Galactose-1-phosphate uridyl transferase (GALT)

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17
Q

Most affected organs in galactosaemia

A

Liver, brain and eyes

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18
Q

Most common lethal genetic disease that affects Caucasian populations

A

Cystic fibrosis

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19
Q

Primary defect in cystic fibrosis

A

Abnormal transport of chloride and bicarbonate ions mediated by an anion channel encoded by the CFTR (cystic fibrosis transmembrane conductance regulator) gene on chromosome 7q31.2

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20
Q

Microscopically normal cells or tissues that are present in abnormal locations

A

Heterotopia

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21
Q

Excessive, focal overgrowth of cells and tissues native to the organ in which it occurs

A

Hamartoma

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22
Q

3 groups of congenital malformations associated with increased risk of Wilms tumour

A
  1. WAGR syndrome
  2. Denys-Drash syndrome
  3. Beckwith-Wiedemann syndrome
23
Q

Tumours of the sympathetic ganglia and adrenal medulla that are derived from primordial neural crest cells populating these sites

A

Neuroblastic tumours

24
Q

Enzyme that is deficient in PKU

A

Phenylalanine hydroxylase

25
Q

Management of infants identified as having PKU

A

Dietary restriction of phenylalanine early in life

26
Q

Biochemical abnormality in PKU?

A

Inability to convert phenylalanine into tyrosine

27
Q

Germline mutations in this gene are a major cause of familial predisposition to neuroblastoma

A

ALK gene (Anaplastic lymphoma kinase)

28
Q

About 90% of neuroblastomas regardless of location produce…

A

Catecholamines

29
Q

Amplification status of this gene is significant in the prognosis of neuroblastomas

A

MYCN

30
Q

Amniotic bands are an example of what type of error of morphogenesis

A

Disruption

31
Q

What is a malformation?

A

Primary error of morphogenesis, in which there is an intrinsically abnormal developmental process

32
Q

What is a common cause of deformations?

A

Uterine constraint

33
Q

What is the difference between agenesis and aplasia?

A

Agenesis - complete absence of an organ and its associated primordium
Aplasia - also absence of an organ but one that occurs due to failure of growth of existing primordium

34
Q

What is atresia?

A

Absence of an opening, usually of a hollow visceral organ e.g. trachea or intestine

35
Q

What are the sequelae of maternal hyperglycaemia

A

Fetal hyperinsulinaemia ->

  • fetal macrosomia
  • cardiac anomalies
  • neural tube defects
  • CNS malformations
36
Q

Which gene does valproate disrupt to cause teratogenesis

A

Homeobox (HOX)

37
Q

What are 4 major risk factors for prematurity?

A
  • PPROM
  • Intrauterine infections
  • Uterine, cervical and placental structural abnormalities
  • Multiple gestation
38
Q

Is caesarean birth associated with higher or lower rates of RDS and why?

A

Labour is known to increase surfactant synthesis

C-section before the onset of labour may increase the risk of RDS

39
Q

What are the two major consequences of high dose oxygen therapy in neonates

A
  • Retinopathy of prematurity (Retrolental hyperplasia)

- Bronchopulmonary dysplasia

40
Q

Who is susceptible to necrotising enterocolitis?

A

Premature infants

41
Q

Which part of the gut does NEC affect?

A

Typically involves the ileum, caecum and Right colon (although any part of the small or large intestine may be affected)

42
Q

How does NEC present?

A

Typical course is onset of bloody stools, abdominal distention, development of circulatory collapse

43
Q

What is often demonstrated on abdo X-ray for cases of NEC?

A

Gas within the intestinal wall (pneumatosis intestinalis)

44
Q

An inflammatory mediator that has been implicated in NEC in increasing mucosal permeability by promoting enterocyte apoptosis and compromising intercellular tight junctions

A

Platelet activating factor (PAF)

45
Q

Describe the pathogenesis of retrolental fibroplasia (retinopathy of prematuritiy). What happens when the offending agent is removed?

A

Phase 1 - hyperoxic phase. VEGF is markedly decreased causing endothelial cell apoptosis
Phase 2 - VEGF levels rebound after return to relatively hypoxic room air including retinal vessel proliferation characteristic of the lesions in the retina

46
Q

What are the two chronological types of neonatal sepsis? What usually causes the earlier one?

A 
Early onset (within the first 7 days of life). Group B Strep is most common cause. 
Late onset (7 days to 3 months)
47
Q

Does ABO incompatibility increase or decrease the risk of rhesus-related hydrops and why?

A

Concurrent ABO incompatibility protects the mother against Rh immunisation because the fetal RBCs are promptly coated and removed from the maternal circulation by anti-A or anti-B IgM antibodies that do not cross the placenta

48
Q

In hydrops associated with fetal anaemia, what does the bone marrow usually demonstrate, and what is the exception to this in terms of cause?

A

Bone marrow demonstrates compensatory hyperplasia of erythroid precursors
Parvovirus-associated red cell aplasia is the notable exception

49
Q

What is erythroblastosis fetalis?

A

Increased haematopoeitic activity -> presence in the peripheral circulation of numbers of immature red cells, including reticulocytes and erythroblasts

50
Q

Most serious threat in fetal hydrops?

A

CNS damage known as kernicterus

51
Q

Is there a form of PKU in which dietary restriction of phenylalanine is ineffective? What is the incidence of this?

A

Approx 2% of PKU is due to abnormalities in synthesis or recycling of the cofactor BH4. These cannot be treated by dietary restriction.

52
Q

What deposits in the tissues in galactosaemia?

A

Galactose-1-phosphate

53
Q

Common causes of oligohydramnios?

A

Amniotic fluid leak
uteroplacental insufficiency
bilateral renal agenesis
cystic renal dysplasia

54
Q

Most common cause of death associated with the oligohydramnios sequence?

A

Respiratory insufficiency resulting from pulmonary hypoplasia

BPS Exam Study (12 decks)

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