AD diseases

Question 1

bilateral, massive enlargement of kidneys due to multiple cysts
-mutation in PKD1 or PKD2

Answer 1

AD polycystic kidney disease

presents in adulthood

Question 2

presents early, leads to adenomatous polyps in colon

Answer 2

AD familial adenomatous polyposis

APC gene

Question 3

severe atherosclerosis early in life

Answer 3

AD familial hypercholesterolemia

Question 4

telangiectasia, epistaxis, skin discoloration, AV malformations, GI bleeding, hematuria

Answer 4

AD Osler-Weber-Rendu syndrome

-hereditary hemorrhagic telangiectasia

Question 5

spectrin or ankyrin defect, hemolytic anemia

Answer 5

AD hereditary spherocytosis

Question 6

treatment for hereditary spherocytosis

Answer 6

splenectomy

Question 7

common presentation of hereditary spherocytosis

Answer 7

fatigue, jaundice, anemia

Question 8

Marfan mutation

Answer 8

AD fibrillin-1

Question 9

organs affected by Marfans

Answer 9

skeleton, heart (floppy mitral valve), aorta (medial necrosis–> insuffiency –> aneuysm), eyes (subluxation of lenses)

Question 10

MEN 1 tumors

Answer 10

pituitary
parathyroid
pancreas

Question 11

MEN 2A tumors

Answer 11

parathyroid
pheochromocytoma
medullary thyroid

Question 12

MEN 2B tumors

Answer 12

pheochromocytoma
medullary thyroid
mucosal neuroma

Question 13

cafe-au-lait spots, cutaneous neurofibromas

Answer 13

AD NF1

Question 14

bilateral acoustic schwannomas, cataracts, meningiomas

Answer 14

AD NF2

Question 15

harartomas, ash-leaf spots, seizures, ID

Answer 15

AD tuberous sclerosis

Question 16

hemangiomas: retina, cerebellum, medulla

pheo

Answer 16

von Hippel-Lindau disease