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FA - Biochem > Biochem13 > Flashcards

Biochem13 Flashcards

Autosomal-Dominant Diseases

1
Q

Cell signaling defect of fibroblast growth factor (FGF) receptor 3.

A

Achondroplasia

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2
Q

What are the findings in Achondroplasia?

What is it associated with?

A

Dwarfism

  • short limbs
  • larger head
  • normal trunk

Advanced PATERNAL age

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3
Q

85% of cases are due to mutation in PKD1 on chromosome 16.

A

Autosomal-dominant polycystic kidney disease (ADPKD)

aka Adult Polycystic Kidney Disease

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4
Q

What are the clinical findings in Autosomal-dominant polycystic kidney disease (ADPKD)?

A

BILATERAL massive enlargement of kidneys d/t multiple large cysts

Pts present w/:

  • Flank pain
  • Hematuria
  • Hypertension
  • Progressive renal failure
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5
Q

What is Autosomal-dominant polycystic kidney disease (ADPKD) associated with?

A

Polycystic liver disease
Berry aneurysms
Mitral valve prolapse

Infantile form is Recessive

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6
Q

What genetic disease is characterized by the colon becoming covered with adenomatous polyps after puberty?

A

Familial adenomatous polyposis

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7
Q

What chromosome and gene are mutated in Familial adenomatous polyposis?

A

Chromosome 5 – APC gene

5 letters in “polyp”

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8
Q

What is the treatment for familial adenomatous polyposis?

A

Colon resection

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9
Q

Patients with Familial hypercholesterolemia have elevated LDL due to a defect in what?

A

LDL receptor

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10
Q

In familial hypercholesterolemia, heterozygotes have cholesterol levels ~ ___ mg/dL; while homozygotes have cholesterol ~ ___ mg/dL.

A

hetero - 300 mg/dl (1:500)

homo - 700 mg/ dl (very rare)

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11
Q

What autosomal dominant disease features a disorder of blood vessels?

A

Hereditary hemorrhagic telengiectasia

Osler-Weber-Rendu syndrome

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12
Q

What are the findings seen in hereditary hemorrhagic telaniectasia (Osler-Weber-Rendu)?

A

Telangiectasia
Recurrent epitaxis
Skin discolorations
Arteriovenous malformations

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13
Q

What is the defect in hereditary spherocytosis?
What are the clinical findings?
Treatment?

A

Spectrin or Ankyrin

Hemolytic anemia
INcreased MCHC

Splenectomy

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14
Q

What chromosome is the gene located on in Huntington’s disease?
What is the trinucleotide repeat?

A

Chromosome 4 “Hunting 4 food”

CAG

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15
Q

In Huntington’s disease there is a decrease in levels of what in the brain?

A

GABA & ACh

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16
Q

Fibrillin-1 gene mutation.

A

Marfan’s syndrome

17
Q

What are the findings in Marfan’s syndrome?

A
  • tall w/ long extremities
  • pectus excavatum
  • hypermobile joints
  • cystic medial necrosis of aorta –> aortic incompetence and dissecting aortic aneurysms
  • floppy mitral valve
18
Q

Subluxation of lenses is seen in what AD disease?

A

Marfan’s syndrome

19
Q

Familial tumors of endocrine glands.

A

Multiple endocrine neoplasms (MEN)

20
Q

Multiple endocrine neoplasms (MEN) 2A & 2B are associated with what gene?

A

ret

21
Q

Mutation found on long arm of chromosome 17.

A

Neurofibromatosis I (aka von Recklinghausen)

22
Q

What are the findings in Neurofibromatosis type I?

A 
Cafe-au-lait spots
Neural tumors
Lisch nodules
skeletal disorders (ie scoliosis)
optic pathway gliomas
23
Q

Neurofibromatosis type II mutation is found on what chromosome?

A

Chr 22

24
Q

What are the characteristic findings in Neurofibromatosis type II?

A

Bilateral acoustic schawannomas

Juvenile cataracts

25
Q

What AD disease presents with facial lesions, hypopigmented “ash leaf spots” on skin, hamartomas, seizures, mental retardation, renal cysts and renal angiomyolipomas, and cardiac rhabdomyomas?

A

Tuberous sclerosis

26
Q

Tuberous sclerosis has in increased risk of what type of brain cancer?

A

Astrocytomas

27
Q

What disease is associated with a deletion of a tumor suppressor gene on chromosome 3 (3p)?

A

von Hippel-Lindau disease

VHL gene (tumor suppressor)

28
Q

VHL gene deletion on chr 3 results in what?

A

Constitutive expression of HIF (transcription factor) and activation of angiogenic growth factors

29
Q

What are the findings in von Hippel-Lindau disease?

A

Hemangioblastomas
- retina/cerebellum/medulla
Bilateral renal cell carcinomas

FA - Biochem (17 decks)

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