Polycystic Kidney Disease (Ch. 20) Flashcards
What is PCKD characterized by?
bilateral renal cysts w/ HTN and worsening kidney function –> transplant and dialysis
What are some causes to PCKD?
- renal failure
- intracranial aneurysms
- aortic dissection w/ and w/o rupture
- cysts in other visceral organs
What are the 2 associated genes with PCKD and their inheritance patterns?
Autosomal dominant (ADPKD) = PKD 1 and PKD 2
Autosomal recessive (ARPKD) = PKHD1
What do the genes PKD 1 and 2 encode for?
polycistin-1 and polycistin-2 membrane proteins
What is the differences between PKD 1 and PKD 2?
PKD-1 = common and worse than PKD2
PKD-2 = rare, slower progression, longer life expectancy
What is the pathology of PCKD?
cyst develop throughout medulla and cortex of BOTH kidneys –> ESRD (end stage renal disease)
- Cysts will disrupt kidney function
What does PCKD pose a pregnancy risk for?
ectopic pregnancy due to the cysts
What factors will affect the expression of the disease?
- triple repeat expansion (more repeats = worse)
- genetic modifiers = alter the expression of mutated genes
- ## genetic heterogeneity
What are the differences between ADPKD and ARPKD?
ADPKD = adult form (30-50 y/o); cysts in kidneys; HTN common
ARPKD = infantile, earlier onset; cysts in kidney and liver
What are symptoms of ADPKD?
- flank and back pain
- headaches
- HTN
- blood in pee
- UTI
- kidney stones
What are treatments for ADPKD?
- ACE inhibitors
- angiotensin II receptor blockers –> protect the liver and increase blood flow to kidney
What are detection tools used to determine ADPKD?
ultrasound, CT, and genetic testing
What does the location of cyst determine?
severity of symptoms
ex: in the kidney = cause worse problems than if it was on surface of kidney
What is ESRD? What are treatments?
end-stage renal disease
- occurs 50% in adults with PCKD
tx = dialysis and kidney transplant
