Biochem - Genetics (Autosomal-dominant diseases) Flashcards
Pg. 87 in First Aid 2014 Sections include: -Autosomal dominant diseases
What was the former name of Autosomal dominant polycystic kidney disease (ADPKD)?
Formerly known as adult polycystic kidney disease
What is the main presentation of ADPKD, and what causes this?
Always bilateral, massive enlargement of kidneys due to multiple large cysts
What mutations cause ADPK? On what chromosomes are they? What percentage of cases are attributed to each of these?
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)
What defines familial adenomatous polyposis, and when does it occur?
Colon becomes covered with adenomatous polyps after puberty
To what does familial adenomatous polyposis progress? How is this progression prevented?
Progresses to colon cancer unless colon is resected
What mutation and chromosome are associated with familial adenomatous polyposis?
Mutations on chromosome 5 (APC gene); Think: “5 letters in ‘polyp’”
What is the defect in familial hypercholesterolemia, and what effect does it have?
Elevated LDL due to defective or absent LDL receptor
What are the 2 main clinical findings caused by familial hypercholesterolemia?
Leads to severe atherosclerotic disease early in life, and tendon xanthomas (classically in the Achilles tendon)
What is Hereditary hemorrhagic telangiectasia? What is another name for it?
Inherited disorder of blood vessels; Also known as Osler-Weber-Rendu syndrome
What are 6 clinical findings associated with hereditary hemorrhagic telangiectasia?
Findings: (1) telangiectasia (2) recurrent epistaxis (3) skin discolorations (4) atriovenous malformations (AVMs) (5) GI bleeding (6) hematuria
What is the defect in hereditary spherocytosis, and what effect does it have?
Spheroid erythrocytes due to spectrin or ankyrin defect
What are 2 clinical/lab findings associated with hereditary spherocytosis?
Hemolytic anemia; high MCHC
What is the treatment for hereditary spherocytosis?
Treatment: splenectomy
What are 5 clinical/lab findings associated with Huntington disease?
Findings: (1) depression, (2) progressive dementia, (3) choreiform movements, (4) caudate atrophy, and (5) low levels of GABA and ACh in the brain
On what chromosome is the Huntington gene?
Gene on chromosome 4; Think: “Hunting 4 food”