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Path 2 exam 2 > Genetic Disorders Brandau > Flashcards

Genetic Disorders Brandau Flashcards

1
Q

Infant death before birth problem with

A

hemoglobinopathies leading to hydrops fetalis

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2
Q

Infant death at birth

A

congenitla lactic acidosis

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3
Q

sudden death 2-3 days of age

A

defect in fatty acid oxidation

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4
Q

deterioration after a symptom free period

A

adrenal insufficiency

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5
Q

absence or defect in tissue of the eye

A

Coloboma

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6
Q

small poorly formed recessed jaw

A

micrognathia

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7
Q

congenital defect where nose is sealed

A

choanal atresia

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8
Q

known causes of congenital malformations

A
  1. chromosomal defects
  2. mandelian defects
  3. infections
  4. maternal diseases
  5. drugs/toxins
  6. irradiation
  7. multifactorial
  8. unknown
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9
Q

Pt presents with retinal colomboma, choanal atresia, square face, micrognathia, malformed low set ears, shallow orbital ridges, systolic murmur, bilateral deafness, ventricular septal defect

A

CHARGE syndrome

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10
Q

What does CHARGE in CHARGE syndrome stand for?

A

C - colomboma
H - heart defects, ie Tetrology of fallot
A - atresia choanae**
R - retardation of growth and development (growth falls off after time)
G - genitourinary problems (hypogonadism common)
E - ear, olfactory, and cranial nerve problems

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11
Q

What is the 3C triad of CHARGE syndrome?

A

coloboma, choanal atresia, abnormal semicircular canals

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12
Q

What type of genetic disorder is CHARGE syndrome?

A

autosomal dominant disorder

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13
Q

Development of what is disrupted in CHARGE syndrome?

A

neural crest cells

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14
Q

What gene is involved in CHARGE?

A

Microdeletions of CHD7 and occasionally deletion at 8q12

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15
Q

HOXA cluster is associated with what systems development?

A

CNS, digestive, and head development

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16
Q

CDH7 protein is what and associated with what

A

nuclear protein associated with nucleosome remodeling

17
Q

What does VATER/VACTERL association stand for?

A 
V - vertebral defects
A - anal atresia
T-E - TE fistula w/ esophageal atresia
R - radial and renal dysplasia
C- cardiac defects
L - imb defects
18
Q

describe VATER syndrome vs association

A

syndrome has defined genetic cause

assocaition does not (characteristic features but no clearly defined genetic features to point to)

19
Q

dominant disorders tend to be problems with what?

A

receptors or structural proteins

20
Q

Patterns of deterioration with IEM

A 
unexplained hypoglycemia
disorders of acid-base status
neurological deterioration
cardiac disorders (arrhythmias/cardiomyopathies)
acute parenchymal liver disease
21
Q

Major causes of hypoglycemia in infancy

A

Endocrine, metabolic, other

22
Q

Endocrine causes of hypoglycemia in infancy

A

adrenal insufficiency, growth hormone deficiency, hypothyroidism, hyperinsulinemia, hypopiuitarism

23
Q

Metabolic cause of hypoglycemia in infancy

A

disorders of carb metabolism, gluconeogenisis, organic acid metabolism, fatty acid oxidation and carnitine transport

24
Q

Other causes of hypoglycemia in infancy

A

drugs (oral hypoglycemic for diabetes/alcohol/aspirin)

sepsis (big mimicker of IEM)

25
Q

4 presentations of hypoglycemia in infancy

A

Cardiac failure
Liver failure
Hepatomegaly
Recurrant intractable hypoglycemia

26
Q

How does hypoglycemia lead to cardiac failure?

A

body utilizes glucose first, the heart uses fatty acids which are metabolized by beta oxidation. If beta oxidation is the problem, you will NOT get ketoacidosis (no DKA)

27
Q

What presentation of hypoglycemia in infancy is associated with fatty acid oxidation?

A

Cardiac failure

28
Q

Liver failure despite correction of hypoglycemia indicative of what?

A

Galactosemia
Hereditary fructose intolerance
Tyrosinemia type I

29
Q

what common defect is associated with neonatal cataracts

A

Galactosemia

30
Q

Infants present with hypoglycemia with normal glucose levels with permanent glucose provision without signs of liver failure but with hepatomegaly may have what?

A

Glycogen storage diseases Type I and Type III or fructose 1,6-biphosphatase defects

31
Q

Infants that cannot maintain adequate glucose levels despite constant glucose provision and without evidence of ketoacidosis will most likely have _____

A

hyperinsulinemia

32
Q

neuro defect appearing 12-72 hours of age

A

urea cycle or branched chain organ acidemias

33
Q

neuro defect appearing 4-7 days of age

A

maple syrup urine disease

34
Q

neuro defect appearing 48 hours of age

A

hyperglycemia

Path 2 exam 2 (6 decks)

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