Autosomal Dominant Diseases

Question 1

ADKPD

Answer 1

• always bilateral
• 85% are due to PKD1 gene (on chromosome 16, 16 letters is polycystic kidney
• remainder due to PKD2 (chromosome 4)

Question 2

FAP

Answer 2

• colon covered with polyps after puberty

- mutation on APC gene, chromosome 5 (polyp = 5 letters)

Question 3

Familial hypercholesterolemia

Answer 3

• elevated LDL due to defective LDL recptors

- tendon xanthomas

Question 4

Hereditary Hemorrhagic Telangiectasia

Answer 4

• inherited disorder of blood vessels
• findings: telangiectasia, recurrent epistaxis, skin discolorations, AV malformations, GI bleeds, hematuria
• aka: Osler-Weber-Rendu

Question 5

Hereditary spherocytosis

Answer 5

• spheroid RBCs due to spectrin or ankyrin defect
• hemolytic anemia
• tx: splenectomy
• increase of MCHC

Question 6

Huntington disease

Answer 6

• caudate atrophy
• decreased levels of GABA and GLU in the braine
• gene on chromosome 4 (Hunting 4 food)
• CAG repeat

Question 7

Marfan

Answer 7

• Fibrillin 1 gene mutation

- subluxation of lens typically goes upward and temporal

Question 8

MEN

Answer 8

MEN 2A and 2B are assoc. with the ret gene

Question 9

Neurofibromatosis 1 (aka- von Recklinghausen)

Answer 9

• cafe au lait
• cutaneous neurofibromas
• 100% penetrance, but variable expression
• mutation in NF1 gene on chromosome 17 (17 letters in neurofibromatosis)

Question 10

Neurofibromatosis 2

Answer 10

• bilateral acoustic schwannomas
• juvenile cataracts
• meningiomas
• NF2 gene on chromosome 22 (type 2 = 22)

Question 11

von Hippel-Lindau disease

Answer 11

• numerous tumors, malignant and benign

- deletion of VHL gene (tumor surpressor) on chromosome 3 (3 words = chromosome 3)

Question 12

What is the mnemonic for all these?

Answer 12

The Fairly Funny, Happy and “Healthy” Hermaphrodite Mary Mused to the News of the New TV.