Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder that primarily affects the kidneys, causing numerous fluid-filled cysts to develop. These cysts grow over time and can lead to kidney enlargement and impaired kidney function. The disease often results in high blood pressure, kidney pain, and eventually kidney failure if untreated. Besides the kidneys, cysts may also form in other organs like the liver. It is one of the most common inherited kidney diseases and usually presents in adulthood.

Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a hereditary disorder characterized by the progressive development of multiple bilateral renal cysts derived from tubular epithelial cells. It is caused mainly by mutations in the PKD1 or PKD2 genes, which encode polycystin-1 and polycystin-2 proteins involved in renal tubular structure and function. The cysts enlarge and disrupt normal kidney architecture, leading to chronic kidney disease and often end-stage renal disease. Clinical features include hypertension, hematuria, and flank pain. Extrarenal manifestations include hepatic cysts, intracranial berry aneurysms, and cardiac valve abnormalities. Diagnosis is important for monitoring and managing complications.