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Biochemistry FA > Autosomal Dominant Diseases > Flashcards

Autosomal Dominant Diseases Flashcards

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

A

22

24
Q

NF1 - AKA

A

Von Recklinghausen disease

24
Q

Neurofibromatosis type 1 (von Recklinghausen disease) inheritance features

A

100% penetrance

Variable expression

25
Q

Neurofibromatosis type 1 (von Recklinghausen disease) - presentation

A
  1. cafe-au-lait spots
  2. cutaneous neurofibromas
  3. optic glioma
  4. pheochromocytomas
  5. Lisch nodules (pigmented iris hamartomas)
26
Q

Neurofibromatosis type 1 (von Recklinghausen disease) is caused by

A

Mutations in NF1 gene in ch 17

27
Q

Marfan syndrome - comective tissue disorder affecting:

A

Skeleton, heart, eyes

28
Q

Cardiovascular/ marfan

A
  1. Floppy mitral valve

2. Dissecting aortic aneurysm (cystic medial necrosis of aorta)

29
Q

Marfnan pathophysiology

A

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

30
Q

Marfan eyes

A

Subluxation of lenses, typically upward and temporally

31
Q

Marfan skeleton

A
  1. Tall with long extremities
  2. Pectus excavactum
  3. Hypermobile joints
  4. Long tapering fingers and toes (arachnodactyly)
33
Q

APC ch

A

5

34
Q

NF1 ch

A

17

35
Q

NF2 ch

A

22

36
Q

VHL ch

A

3

37
Q

Huntington chromosome

Repeated trinucleotide disorder

A

4 CAG

38
Q

Marfan gene and chromosome

A

FBN1 gene on ch15

39
Q

Li-Fraumeni syndrome - mechanism

A

Abnormalities in TP53 –> multiple malignanciesin TP53

40
Q

Li-Fraumeni syndrome - presentation

A

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

Biochemistry FA (16 decks)

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