Biochem - Genetics (Autosomal-dominant diseases) Flashcards

Pg. 87 in First Aid 2014 Sections include: -Autosomal dominant diseases

1
Q

What was the former name of Autosomal dominant polycystic kidney disease (ADPKD)?

A

Formerly known as adult polycystic kidney disease

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2
Q

What is the main presentation of ADPKD, and what causes this?

A

Always bilateral, massive enlargement of kidneys due to multiple large cysts

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3
Q

What mutations cause ADPK? On what chromosomes are they? What percentage of cases are attributed to each of these?

A

85% of cases are due to mutation in PKD1 (chromosome 16; Think: “16 letters in polycystic kidney”); Remainder due to mutation in PKD2 (chromosome 4)

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4
Q

What defines familial adenomatous polyposis, and when does it occur?

A

Colon becomes covered with adenomatous polyps after puberty

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5
Q

To what does familial adenomatous polyposis progress? How is this progression prevented?

A

Progresses to colon cancer unless colon is resected

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6
Q

What mutation and chromosome are associated with familial adenomatous polyposis?

A

Mutations on chromosome 5 (APC gene); Think: “5 letters in ‘polyp’”

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7
Q

What is the defect in familial hypercholesterolemia, and what effect does it have?

A

Elevated LDL due to defective or absent LDL receptor

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8
Q

What are the 2 main clinical findings caused by familial hypercholesterolemia?

A

Leads to severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon)

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9
Q

What is Hereditary hemorrhagic telangiectasia? What is another name for it?

A

Inherited disorder of blood vessels; Also known as Osler-Weber-Rendu syndrome

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10
Q

What are 6 clinical findings associated with hereditary hemorrhagic telangiectasia?

A

Findings: (1) telangiectasia (2) recurrent epistaxis (3) skin discolorations (4) atriovenous malformations (AVMs) (5) GI bleeding (6) hematuria

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11
Q

What is the defect in hereditary spherocytosis, and what effect does it have?

A

Spheroid erythrocytes due to spectrin or ankyrin defect

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12
Q

What are 2 clinical/lab findings associated with hereditary spherocytosis?

A

Hemolytic anemia; high MCHC

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13
Q

What is the treatment for hereditary spherocytosis?

A

Treatment: splenectomy

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14
Q

What are 5 clinical/lab findings associated with Huntington disease?

A

Findings: (1) depression, (2) progressive dementia, (3) choreiform movements, (4) caudate atrophy, and (5) low levels of GABA and ACh in the brain

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15
Q

On what chromosome is the Huntington gene?

A

Gene on chromosome 4; Think: “Hunting 4 food”

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16
Q

What kind of repeats are associated with Huntington disease? What effect do increasing number of repeats have?

A

Trinucleotide repeat disorder: (CAG)n. Increased repeats –> Decreased age of onset

17
Q

What is the defect in Marfan syndrome, and what effects does it have?

A

Fibrillin-1 gene mutation –> connective tissue disorder affecting skeleton, heart, and eyes

18
Q

What are 4 physical findings associated with Marfan syndrome?

A

Findings: (1) tall with long extremities (2) pectus excavatum (3) hypermobile joints (4) Long, tapering fingers and toes (arachnodactyly)

19
Q

What aortic finding is associated with Marfan syndrome, and what causes it?

A

Cystic medial necrosis of aorta –> aortic incompetence and dissecting aortic aneurysms

20
Q

What cardiac finding is associated with Marfan syndrome?

A

Floppy mitral valve

21
Q

What ocular finding is associated with Marfan syndrome?

A

Subluxation of lenses, typically upward and temporally

22
Q

What is MEN, and what are the types of MEN? In general, what characterizes them?

A

Multiple endocrine neoplasias (MEN); Several distinct syndromes (1, 2A, 2B) characterized by familial tumors of endocrine glands, including those of the pancreas, parathyroid, pituitary, thyroid, and adrenal medulla.

23
Q

Which what gene is MEN 2A associated? What other type of MEN is also associated with this gene?

A

MEN 2A and 2B are associated with ret gene

24
Q

What is another name for Neurofibromatosis type 1?

A

Neurofibromatosis type 1 (von Recklinghausen disease)

25
Q

What is Neurofibromatosis type 1, and what 2 main physical findings characterize it?

A

Neurocutaneous disorder characterized by cafe-au-lait spots and cutaneous neurofibromas

26
Q

What is the mode of inheritance, penetrance, and expression of neurofibromatosis type 1?

A

Autosomal dominant, 100% penetrance, variable expression

27
Q

What gene mutations cause Neurofibromatosis type 1, and on what chromosome is the gene found?

A

Caused by mutations in the NF1 gene on chromosome 17; Think: “17 letters in ‘von Recklinghausen’”

28
Q

What are 4 clinical findings associated with Neurofibromatosis type 2?

A

Findings: (1) bilateral acoustic schwannomas (2) juvenile cataracts (3) meningiomas (4) ependymomas

29
Q

What gene mutations cause Neurofibromatosis type 2, and on what chromosome is the gene found?

A

NF2 gene on chromosome 22; Think: “type 2 = 22”

30
Q

What is Tuberous sclerosis, and what finding characterizes it?

A

Neurocutaneous disorder with multi-organ system involvement, characterized by numerous benign hamartomas

31
Q

What is the penetrance and expression of Tuberous sclerosis?

A

Incomplete penetrance, variable expression

32
Q

What characterizes von Hippel-Lindau disease?

A

Disorder characterized by development of numerous tumors, both benign and malignant

33
Q

With what mutation is von Hippel-Lindau disease associated, and on what chromosome is this gene found?

A

Associated with deletion of VHL gene (tumor suppressor) on chromosome 3 (3p); Think: “Von Hippel-Lindau = 3 words for chromosome 3”