Congenital Diseases

Question 1

Recurrent pneumonia, chronic diarrhea, failure to thrive

Answer 1

Cystic fibrosis

Diarrhea due to pancreatic insufficiency

Question 2

Which bacteria tend to affect cystic fibrosis?

Answer 2

S aureus
Pseudomonas

Question 3

Kallmann syndrome

Answer 3

Disorder of migration of fetal olfactory and GnRH-producing neurons

Hypogonadotropic hypogonadism

Mostly X-linked recessive, but girls can be affected by autosomal mutations as well

Question 4

How would 5-alpha reductase deficiency and AIS differ in genotypic males?

Answer 4

5-a-reductase deficiency: virilization at puberty; no breast development

AIS: No pubic or axillary hair; breast development

Question 5

What is the mutation in Marfan?

Answer 5

Fibrillin-1 (autosomal dominant) - weakened connective tissue –> joint hypermobility, skin hyperelasticity, long fingers, pectus excavatum, scoliosis, lens dislocation (upward), mitral valve prolapse, aortic root dilation (aortic regurgitation)

Watch for aneurysms, aortic arch dissection

Question 6

What is the mutation in Ehlers-Danlos?

Answer 6

Collagen (type V)- scoliosis, joint laxity, aortic dilation

Stretchy skin

Question 7

What is the mutation in homocystinuria?

Answer 7

Cystathione synthase - involved in metabolism of methionine

Shares features of Marfan but risk of thromboembolic events, intellectual disability, fair complexity, DOWNWARD lens dislocation (not upward)

Question 8

What disease is similar to Marfan but lacks certain features?

Answer 8

Congenital contractural arachnodactyly (dominant) - fibrillin-2 - no ocular or cardiovascular symptoms

Question 9

Why is Klinefelter likely sterile?

Answer 9

XXY - fibrosis of seminiferous tubules

Question 10

Fabry disease

Answer 10

Lysosomal storage disorder
Alpha-galactosidase A deficiency

Neuropathic pain
Telangiectasias, angiokeratomas
Glomerular disease with proteinuria
Thromboembolic events (stroke, MI)

Question 11

Aortic root dilation

Answer 11

Marfan, Ehlers-Danlos

Question 12

Ectopia lentis (dislocated lens)

Answer 12

Marfan

Question 13

Mitral valve prolapse

Answer 13

Marfan

Question 14

Myotonic dystrophy gene

Answer 14

CTG repeats in DMPK gene, autosomal dominant with anticipation

Muscle weakness, pain, atrophy

Can also include hypogonadism

Question 15

Alpha thalassemia major forms what?

Answer 15

Gamma homotetramers (Hgb Barts) - extreme affinity fo oxygen (>10x Hgb A) -> severe fetal hypoxemia -> intrauterine fetal demise

Question 16

Turner syndrome - conditions of medications

Answer 16

1. Recombinant GH when height <5th%
2. Estradiol age 11 - induce puberty and breast development, reduce risk for osteoporosis and cardio complications
3. Progestin after menarche to mitigate endometrial hyperplasia

Question 17

What metabolic disorder is X-linked recessive?

Answer 17

Fabry disease

Question 18

Gaucher in infants vs adults

Answer 18

Infants - early, rapid neurologic decline
Adults (more common) - don’t have vrain defects

Question 19

McCune-Albright - treatment

Answer 19

Estrogen blockers (tamoxifen) or aromatase inhibitors