Autosomal Dominant Diseases

Question 0

Autosomal dominant polycystic kidney disease is also known as

Answer 0

Adult polycystic kidney disease

Question 1

Autosomal dominant disease are often

Answer 1

PLEIOTROPIC

Question 2

Autosomal dominant polycystic kidney disease is due to

Answer 2

1. PKD1 on ch 16 (85%)

2. PKD2 on ch 4 (15%)

Question 3

Autosomal dominant polycystic kidney disease is bilateral or unilateral / morphology

Answer 3

Always bilateral

Massive enlargement of kidneys due to multiple large cysts

Question 4

Familial adenomatous polyposis(FAP) morphology

Answer 4

Colon becomes covered with adenomatous polyps after puberty

Question 5

Familial adenomatous polyposis age of appearance

Answer 5

After puberty

Question 6

Familial adenomatous polyposis is due to

Answer 6

APC gene (ch5) mutation

Question 7

Chromosome of APC

Answer 7

5

Question 8

Familial hypercholesterolemia pathophysiology

Answer 8

Elevated LDL due to defective or absent LDL receptor

Question 9

Familial hypercholesterolemia leads to:

Answer 9

1. Severe atherosclerotic disease early in life

2. Tendon xanthomas (classically in the Achilles tendon)

Question 10

Hereditary spherocytosis is due to

Answer 10

Spectrin or ankyrin defect

Question 11

Hereditary hemorrhagic telengiectasia is also known as

Answer 11

Olser - Weber - Rednu

Question 12

Hereditary spherocytosis main finding

Answer 12

Hemolytic anemia with increased MCHC and increased RDW

Question 14

What is hereditary hemorrhagic telangiectasia

Answer 14

Inherited (AD) disorder of blood vessels

Question 14

Tuberous sclerosis

Answer 14

Neurocutaneous disorder with multi-organ system involvement, characterized by numerous bening HAMARTOMAS

Question 15

Finding of hereditary hemorrhagic telangiectasia

Answer 15

1. branching skin lesions (Telangiectasia) 2. Recurrent epistaxis 3. Skin discoloration 4. Arteriovenous malformations 5. GI bleeding 6. Hematuria

Question 16

Tuberous sclerosis phenotype expression features

Answer 16

Incomplete penetrance and variable expression

Question 17

Von hippel-lindau is characterized by development of

Answer 17

Numerous tumors (both benign and malignant)

Question 18

Von Hippel-Lindau disease pathophysiology (genes)

Answer 18

Deletion of VHL gene (tumor suppressor - ch 3)

Question 20

Huntington symptoms / morphology

Answer 20

1. Depression
2. Progressive dementia
3. Choreiform movments
4. aggression
   morphology: caudate atrophy

Question 20

NF2 findings

Answer 20

1. Bilateral acoustic schwannomas
2. Juvenile cataracts
3. Meningiomas
4. Ependymomas

Question 21

Huntington lab findings

Answer 21

Low levels of GABA and ACH

high levels of dopamine

Question 23

NF2 chromosome

Answer 23

22

Question 24

NF1 - AKA

Answer 24

Von Recklinghausen disease

Question 24

Neurofibromatosis type 1 (von Recklinghausen disease) inheritance features

Answer 24

100% penetrance | Variable expression

Question 25

Neurofibromatosis type 1 (von Recklinghausen disease) - presentation

Answer 25

1. cafe-au-lait spots 2. cutaneous neurofibromas 3. optic glioma 4. pheochromocytomas 5. Lisch nodules (pigmented iris hamartomas)

Question 26

Neurofibromatosis type 1 (von Recklinghausen disease) is caused by

Answer 26

Mutations in NF1 gene in ch 17

Question 27

Marfan syndrome - comective tissue disorder affecting:

Answer 27

Skeleton, heart, eyes

Question 28

Cardiovascular/ marfan

Answer 28

1. Floppy mitral valve | 2. Dissecting aortic aneurysm (cystic medial necrosis of aorta)

Question 29

Marfnan pathophysiology

Answer 29

Fibrillin 1 gene mutation (FBN1) ON CHROMOSOME 15 --> defective fibrillin (scaffold for elastin) --> connective tissue disorder

Question 30

Marfan eyes

Answer 30

Subluxation of lenses, typically upward and temporally

Question 31

Marfan skeleton

Answer 31

1. Tall with long extremities 2. Pectus excavactum 3. Hypermobile joints 4. Long tapering fingers and toes (arachnodactyly)

Question 33

APC ch

Answer 33

5

Question 34

NF1 ch

Answer 34

17

Question 35

NF2 ch

Answer 35

22

Question 36

VHL ch

Answer 36

3

Question 37

Huntington chromosome | Repeated trinucleotide disorder

Answer 37

4 CAG

Question 38

Marfan gene and chromosome

Answer 38

FBN1 gene on ch15

Question 39

Li-Fraumeni syndrome - mechanism

Answer 39

Abnormalities in TP53 --> multiple malignanciesin TP53

Question 40

Li-Fraumeni syndrome - presentation

Answer 40

multiple malignanciesin TP53 --> AKA SBLA --> sarcoma, breast, leukemia, adrenal gland