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Peds Additional > Genetics > Flashcards

Genetics Flashcards

1
Q

Ingestion during preggers causes: Hypoplastic nasal bridge, chondrodysplasia punctata

A

Warfarin

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2
Q

Ingestion during preggers causes: microcephaly, CHD with septal defects and PDA and FAS

A

Ethanol

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3
Q

Ingestion during preggers: Facial and ear anomalies, CHD

A

Isotretinoin

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4
Q

Ingestion during preggers: Ebstein anomaly, ASD

A

Lithium

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5
Q

Ingestion during preggers: Hypoplastic nails, IUGR, cleft lip and palate

A

Phenytoin

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6
Q

Ingestion during preggers: Congenital goiter, hypothyroidism

A

Radioactive iodine

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7
Q

ingestion during preggers causes: Virilization of female

A

Testosterone like drugs

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8
Q

Dental enamel hypoplasia, altered bone growth

A

Tetracycline

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9
Q

Phocomelia, CHD, TOF or septal defects

A

Thalidomide

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10
Q

Typical facies, CHD (TOF, TGA, HLHS)

A

Trimethadione

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11
Q

Spina bifida

A

Valproate

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12
Q

List of Autosomal Dominant diseases

A

AAHHMNCTV
Achondroplasia, adult PKD, Hereditary angioedema, Hereditary Spherocytosis, Marfans, Neurofibromatosis, protein C def, Tuberuos sclerosis, vWDx

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13
Q

List of Autosomal Recessive diseases

A

CCGGIPSTW

CAH, CF, Galactosemia, Gaucher, infantile PKD, PKU, sickle cell, Tay-Sachs, Wilson

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14
Q

Causes pregnancy loss, congenital malformations and mental retardation; often arise de novo during gametogenesis

A

Chormosomal disorders

–see family hx for spont abortions or higher-than-change frequency of children with chromosomal problems

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15
Q

How do we work up chromosomal copy number abnormalities

A

karyotype, FISH or micorarray.

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16
Q

X linked diseases

A

Bruton agamma, CGD, Color blind, Duchenne MD, G6PD, Hemophilia A/B, Lesch-Nyhan, Ornathine transcarboxylase defi

17
Q

Syndrome causing: congenital heart defect (typically pulmonary valve stenosis; also atrial septal defect and hypertrophic cardiomyopathy), short stature, learning problems, pectus excavatum, impaired blood clotting, and a characteristic configuration of facial features including a webbed neck and a flat nose bridge.

A

Noonans or ‘male turners’ seen in males and females

18
Q

What does galactosemia, fructosemia, tyrosinosis and G6P deficiency have in common

A

All are congenital deficiency of enZ; will accumulate metabolic precursors that damage vital organs
Both galactose and fructose make urinary reducing substances; all these are Autosomal Recessive inheritance

19
Q

How does tyrosinosis present?

A

Acute liver failure in infancy; d/t lack of enZ thus build up tyrosine and it’s metabolites in liver, kidney and CNS

20
Q

When and how does G6P defiency present?

A

around 3-4 mo age with FTT, hypoglycemia, hepatomegaly and acidosis

21
Q

12 yo presents with dizziness; workup shows HgB of 8 and 4,000 WBC with plats of 98,000. PE shows enlarged spleen and XR shows ‘Erlenmeyer flask’ apperance of femur. What would you expect to see on BM examination, what is the disease? How do you diagnosis dx?

A

Gaucher disease
BM show big cells engorged with glucocerebroside; have anemia/leukopenia/thrombocytopenia as BM is replaced by these cells
Dx with measuring Glucocerebrosidase level

22
Q

Mom is 8 mo pregnant and experiencing weight loss, anxiousness, feels warm and has racing heart. What would we worry about in her newborn

A

mom have thyrotoxicosis 2/2 to Graves; has thyrotropin receptor stimulating antiB that cross placenta; baby will have tachy, tachypnea with HEART FAIL, hyperactivity and irritability with low birth wt and microcephaly with vomiting and diarrhea.

23
Q

When is puberty ‘delayed’ in male? What are signs of starting of puberty on exam?
What test would you get if you were concerned about delayed puberty?

A

By 14 should show signs of puberty
penis >2.5cm or testes >3.0cm early signs
Radiograph of wrist is most helpful to determine if PE matches with bone age

24
Q

Child is deaf and had two different colored irises with lateral displacement of inner canthi and white forelock. What is inheritance pattern?

A

Waardenburg; Autosomal dominant

25
Q

Child has episodes of headache, tachycardia and hypertension… What can this tumor be associated with?

A

Pheocromocytoma

Tuberos sclerosis, Sturge-Weber, Ataxia-telangiectasia or part of MEN

26
Q

How does untreated or unrecognized galatosemia present in neonate

A

w/in first weeks of life baby with have FTT and emesis, won’t gain weight, become jaundiced with elevated direct bili and hepatosplenomegaly with elevated LFTs and low serum glucose

27
Q

What is the inheritance pattern of achondroplasia

A

Auto Dominant

28
Q

What are signs of congenital hypothryoidism?

A

constipation, prolong jaundice, sluggish, macroglossia, poor feeds with apnea and sleepy
PE of newborn will show abdominal distension and sleepy infant
*give oral sodium-L-thyroxine right away

29
Q

1 yo with course face, cloudy cornea, hirsutism and hepatosplenomegaly. Normal at birth but now short for age

A

Hurler

Autosomal storage disease; alpha-1-iduronidase deficiency build up dermatan sulfate

30
Q

Kid has MR, short with brachydacytly of 4/5th digits, obesity and round face with subcapsular cataracts as well as perivascular calcifications of basal ganglia. What is diagnosis and what is patient’s calcium and phosphorus levels

A

Albright hereditary pseudohypoparathyroidism
Low Calcium
High Phosphorus with high parathyroid levels

31
Q

How does a baby with CAH present?

A

first 5-15 days of life with anorexia, vomitting, diarrhea and dehydration. Will see hypoglycemia, hyponatremia, hyperkalemia may see increased pigmentation. Boys may have virilization.

32
Q

Kiddo has diapers that turn black when exposed to air with normal PE. Urine has reducing substances when tested with ferric chloride. Dx? and how does this present in adulthood?

A

Homogentisic acid oxidase defieincy from Alkaptonuria

children Asx and as adult see ochronosis (bluish pigment of cartilage and fibrous tissue devos; may have arthritis)

33
Q

What organ systems does Wilson’s affect?

A

Liver dx with neurologic and behavioral change from buildup of copper as well as renal tubular dsfnx and kayser-fleicher rings; have Cu deposition in tissues with low cerumoplasmin

34
Q

What does the serum Ca and serum Phos look like in child with medullary carcinoma

A

C cells secrete calcitonin–> BUT pt usually has normal Ca and normal Phos

35
Q

What are the electrolyte abnromalities seen in CAH and why?

A

Hyponatremia and Hyperkalemia
mineralcorticoid (aldosterone) and cortisol is affected thus low aldosterone impairs exchange of K for Na causing hypoNa and hyperK

36
Q

What is the pathogenesis in central diabetes insipidis and what are associated electrolyte imbalances?

A 
No vasopressin (ADH) production thus RT are impermeable to water--> excreation of hypotonic urine w/ net loss of water and hemoconcentration of K and Na
HyperNa and HyperK
37
Q

What are labs like in patient with nephrogenic diabetes insipidus?

A

labs are similar to central DI with release of hypotonic urine and hemoconcentration of Na and K: hyperK and hyperNa

38
Q

What are electrolyte findings in patient with hyperaldosteronism

A

More aldosterone = enhanced renal tubular sodium-potassium exchange
HypoK, HyperNa, Hyperchloremia and alkalosis

39
Q

What is the defect in children with Addisons? What happens to their electrolytes?

A

Deficiency of glucocorticoids and mineralcorticoids. IMpaired resorption of Na and excreation of K and H+ at distal renal tubules with loss of water
-if compensated Addisons have relatively normal labs; if in crisis have HypoNa, HyperK and hsock

Peds Additional (7 decks)

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