Autosomal Dominant diseases

Question 1

Polycystic Kidney Disease

Answer 1

85% PKD1 (ch. 16), remainder PKD2 (chr. 4)

Increased risk of aneurysms in CoW

Question 2

Familial Adenomatous Polyposis

Answer 2

Polyps develop after puberty. 100% develop cancer by 40 w/o colectomy. APC gene on chr. 5

Question 3

Familial Hypercholesterolemia

Answer 3

Most common inherited disorder. Defective or absent LDL R. Early arthrosclerosis. Xanthomas- lipid laden macrophages in skin. chr. 19.

Question 4

Hereditary Hemorrhagic Telangiectasia

Answer 4

Osler-Weber- Rendu. Telangiectasias, recurrent epistaxis, AVMs, hematuria.

Question 5

Hereditary Spherocytosis

Answer 5

Spectrin or Ankyrin defect. Hemolytic anemia with elevated MCHC. Pigmented gallstones. Tx: splenectomy

Question 6

Huntington’s Disease

Answer 6

Depression, progressive dementia, choreiform movements, CAUDATE ATROPHY, decreased GABA and ACh in the brain. CAG repeats on chr. 4. Anticipation

Question 7

Marfan syndrome

Answer 7

Firbrillin-1 gene defect affecting skeleton, heart and eyes. Ao incompetence/dissection. Upward subluxation of lensus

Question 8

Multiple Endocrine Neoplasias

Answer 8

Incomplete penetrance
I- Pituitary, Pancreas, Parathyroid(mc); MEN gene
IIa- Parathyroid, Pheo, Medullary (thyroid); ret proto-oncogene
IIb- Pheo, Medullary (thyroid), Mucocutaneous neuromas, Marfanoid; ret proto-oncogene

Question 9

Neurofibromatosis (type 1)

Answer 9

Neurocutaneous disorder w/café au lait spots and cutaneous neurofibromas. Increased risk for Pheo. 100% penetrance, variable expression. NF1 gene chr. 17

Question 10

Neurofibromatosis (type 2)

Answer 10

Bilateral acoustic schwannomas, juvenile cataracts, meningiomas & ependymomas. NF2 gene chr. 22

Question 11

Tuberous Sclerosis

Answer 11

Benign Hamartomas. Incomplete penetrance, variable expression. Ash leaf spots (hypopigmentation) renal cysts, cardiac rhabdomyomas. Increased risk of MR.

Question 12

von Hippel-Lindau disease

Answer 12

Development of numerous hemangioblastomas (benign & malignant) in the CNS. Can also have other cysts & bilateral RCC. Delection of VHL gene on chr. 3p. Normal gene tags proteins for ubiquitin degredation.