Autosomal Dominant Diseases Flashcards Preview

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Flashcards in Autosomal Dominant Diseases Deck (40):
0

Autosomal dominant disease are often

PLEIOTROPIC

1

Autosomal dominant polycystic kidney disease is also known as

Adult polycystic kidney disease

2

Autosomal dominant polycystic kidney disease is due to

1. PKD1 on ch 16 (85%)
2. PKD2 on ch 4 (15%)

3

Autosomal dominant polycystic kidney disease is bilateral or unilateral / morphology

Always bilateral
Massive enlargement of kidneys due to multiple large cysts

4

Familial adenomatous polyposis(FAP) morphology

Colon becomes covered with adenomatous polyps after puberty

5

Familial adenomatous polyposis age of appearance

After puberty

6

Familial adenomatous polyposis is due to

APC gene (ch5) mutation

7

Chromosome of APC

5

8

Familial hypercholesterolemia pathophysiology

Elevated LDL due to defective or absent LDL receptor

9

Familial hypercholesterolemia leads to:

1. Severe atherosclerotic disease early in life
2. Tendon xanthomas (classically in the Achilles tendon)

10

Hereditary spherocytosis is due to

Spectrin or ankyrin defect

11

Hereditary hemorrhagic telengiectasia is also known as

Olser - Weber - Rednu

12

Hereditary spherocytosis main finding

Hemolytic anemia with increased MCHC and increased RDW

14

What is hereditary hemorrhagic telangiectasia

Inherited (AD) disorder of blood vessels

14

Tuberous sclerosis

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

15

Finding of hereditary hemorrhagic telangiectasia

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

16

Tuberous sclerosis phenotype expression features

Incomplete penetrance and variable expression

17

Von hippel-lindau is characterized by development of

Numerous tumors (both benign and malignant)

18

Von Hippel-Lindau disease pathophysiology (genes)

Deletion of VHL gene (tumor suppressor - ch 3)

20

Huntington symptoms / morphology

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

20

NF2 findings

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

21

Huntington lab findings

Low levels of GABA and ACH
high levels of dopamine

23

NF2 chromosome

22

24

NF1 - AKA

Von Recklinghausen disease

24

Neurofibromatosis type 1 (von Recklinghausen disease) inheritance features

100% penetrance
Variable expression

25

Neurofibromatosis type 1 (von Recklinghausen disease) - presentation

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

26

Neurofibromatosis type 1 (von Recklinghausen disease) is caused by

Mutations in NF1 gene in ch 17

27

Marfan syndrome - comective tissue disorder affecting:

Skeleton, heart, eyes

28

Cardiovascular/ marfan

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

29

Marfnan pathophysiology

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

30

Marfan eyes

Subluxation of lenses, typically upward and temporally

31

Marfan skeleton

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

33

APC ch

5

34

NF1 ch

17

35

NF2 ch

22

36

VHL ch

3

37

Huntington chromosome
Repeated trinucleotide disorder

4 CAG

38

Marfan gene and chromosome

FBN1 gene on ch15

39

Li-Fraumeni syndrome - mechanism

Abnormalities in TP53 --> multiple malignanciesin TP53

40

Li-Fraumeni syndrome - presentation

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