Biochem13 Flashcards
Autosomal-Dominant Diseases
Cell signaling defect of fibroblast growth factor (FGF) receptor 3.
Achondroplasia
What are the findings in Achondroplasia?
What is it associated with?
Dwarfism
- short limbs
- larger head
- normal trunk
Advanced PATERNAL age
85% of cases are due to mutation in PKD1 on chromosome 16.
Autosomal-dominant polycystic kidney disease (ADPKD)
aka Adult Polycystic Kidney Disease
What are the clinical findings in Autosomal-dominant polycystic kidney disease (ADPKD)?
BILATERAL massive enlargement of kidneys d/t multiple large cysts
Pts present w/:
- Flank pain
- Hematuria
- Hypertension
- Progressive renal failure
What is Autosomal-dominant polycystic kidney disease (ADPKD) associated with?
Polycystic liver disease
Berry aneurysms
Mitral valve prolapse
Infantile form is Recessive
What genetic disease is characterized by the colon becoming covered with adenomatous polyps after puberty?
Familial adenomatous polyposis
What chromosome and gene are mutated in Familial adenomatous polyposis?
Chromosome 5 – APC gene
5 letters in “polyp”
What is the treatment for familial adenomatous polyposis?
Colon resection
Patients with Familial hypercholesterolemia have elevated LDL due to a defect in what?
LDL receptor
In familial hypercholesterolemia, heterozygotes have cholesterol levels ~ ___ mg/dL; while homozygotes have cholesterol ~ ___ mg/dL.
hetero - 300 mg/dl (1:500)
homo - 700 mg/ dl (very rare)
What autosomal dominant disease features a disorder of blood vessels?
Hereditary hemorrhagic telengiectasia
Osler-Weber-Rendu syndrome
What are the findings seen in hereditary hemorrhagic telaniectasia (Osler-Weber-Rendu)?
Telangiectasia
Recurrent epitaxis
Skin discolorations
Arteriovenous malformations
What is the defect in hereditary spherocytosis?
What are the clinical findings?
Treatment?
Spectrin or Ankyrin
Hemolytic anemia
INcreased MCHC
Splenectomy
What chromosome is the gene located on in Huntington’s disease?
What is the trinucleotide repeat?
Chromosome 4 “Hunting 4 food”
CAG
In Huntington’s disease there is a decrease in levels of what in the brain?
GABA & ACh
Fibrillin-1 gene mutation.
Marfan’s syndrome
What are the findings in Marfan’s syndrome?
- tall w/ long extremities
- pectus excavatum
- hypermobile joints
- cystic medial necrosis of aorta –> aortic incompetence and dissecting aortic aneurysms
- floppy mitral valve
Subluxation of lenses is seen in what AD disease?
Marfan’s syndrome
Familial tumors of endocrine glands.
Multiple endocrine neoplasms (MEN)
Multiple endocrine neoplasms (MEN) 2A & 2B are associated with what gene?
ret
Mutation found on long arm of chromosome 17.
Neurofibromatosis I (aka von Recklinghausen)
What are the findings in Neurofibromatosis type I?
Cafe-au-lait spots Neural tumors Lisch nodules skeletal disorders (ie scoliosis) optic pathway gliomas
Neurofibromatosis type II mutation is found on what chromosome?
Chr 22
What are the characteristic findings in Neurofibromatosis type II?
Bilateral acoustic schawannomas
Juvenile cataracts
