Autosomal Dominant Diseases Flashcards

(40 cards)

0
Q

Autosomal dominant polycystic kidney disease is also known as

A

Adult polycystic kidney disease

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1
Q

Autosomal dominant disease are often

A

PLEIOTROPIC

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2
Q

Autosomal dominant polycystic kidney disease is due to

A
  1. PKD1 on ch 16 (85%)

2. PKD2 on ch 4 (15%)

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3
Q

Autosomal dominant polycystic kidney disease is bilateral or unilateral / morphology

A

Always bilateral

Massive enlargement of kidneys due to multiple large cysts

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4
Q

Familial adenomatous polyposis(FAP) morphology

A

Colon becomes covered with adenomatous polyps after puberty

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5
Q

Familial adenomatous polyposis age of appearance

A

After puberty

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6
Q

Familial adenomatous polyposis is due to

A

APC gene (ch5) mutation

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7
Q

Chromosome of APC

A

5

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8
Q

Familial hypercholesterolemia pathophysiology

A

Elevated LDL due to defective or absent LDL receptor

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9
Q

Familial hypercholesterolemia leads to:

A
  1. Severe atherosclerotic disease early in life

2. Tendon xanthomas (classically in the Achilles tendon)

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10
Q

Hereditary spherocytosis is due to

A

Spectrin or ankyrin defect

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11
Q

Hereditary hemorrhagic telengiectasia is also known as

A

Olser - Weber - Rednu

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12
Q

Hereditary spherocytosis main finding

A

Hemolytic anemia with increased MCHC and increased RDW

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14
Q

What is hereditary hemorrhagic telangiectasia

A

Inherited (AD) disorder of blood vessels

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14
Q

Tuberous sclerosis

A

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

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15
Q

Finding of hereditary hemorrhagic telangiectasia

A
  1. branching skin lesions (Telangiectasia) 2. Recurrent epistaxis 3. Skin discoloration 4. Arteriovenous malformations 5. GI bleeding 6. Hematuria
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16
Q

Tuberous sclerosis phenotype expression features

A

Incomplete penetrance and variable expression

17
Q

Von hippel-lindau is characterized by development of

A

Numerous tumors (both benign and malignant)

18
Q

Von Hippel-Lindau disease pathophysiology (genes)

A

Deletion of VHL gene (tumor suppressor - ch 3)

20
Q

Huntington symptoms / morphology

A
  1. Depression
  2. Progressive dementia
  3. Choreiform movments
  4. aggression
    morphology: caudate atrophy
20
Q

NF2 findings

A
  1. Bilateral acoustic schwannomas
  2. Juvenile cataracts
  3. Meningiomas
  4. Ependymomas
21
Q

Huntington lab findings

A

Low levels of GABA and ACH

high levels of dopamine

23
Q

NF2 chromosome

24
Q

NF1 - AKA

A

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