Which of the following statement are true regarding autosomal dominant polycystic kidney disease (ADPKD)?
High-Yield Explanation
Autosomal dominant polycystic kidney disease (ADPKD) Kidneys are bilaterally enlarged External surface appears to be composed solely of a mass of cysts, up to 3 to 4 cm in diameter, with no intervening parenchyma. Microscopic examination - Functioning nephrons dispersed between the cysts. The cysts may be filled with a clear, serous fluid or with turbid, red to brown, sometimes hemorrhagic fluid. Cysts may arise at any level of the nephron, from tubules to collecting ducts, and therefore they have a variable, often atrophic lining. PKD1 gene implicated in 85% of cases.PKD1, on 16p, is the defective gene. This gene encodes polycystin-1. PKD2 gene, implicated in 10% to 15% of cases, resides on chromosome 4 and encodes polycystin-2.