Alternative Names & Classifications:
Autosomal Dominant Polycystic Kidney Disease (CLINICAL), PKD (CLINICAL)
Description
Autosomal dominant PKD is primarily caused by mutations in the PKD1 or PKD2 genes, leading to abnormal cell growth and fluid accumulation in the kidney tubules. As the cysts enlarge, they cause the kidneys to swell and lose function over time, often leading to end-stage renal disease. Symptoms often do not appear until a person is between 30 and 40 years old.