Autosomal dominant polycystic kidney disease

摘要

Autosomal dominant polycystic kidney disease (ADPKD) is the most common human genetic disease, affecting 1 in 500 to 1 in 1000 live births. The disease occurs in all races, affecting as many as 5 million people worldwide. It is one of the most commoncauses of endstage renal disease in the United States, and accounts for approximately 10 percent of patients on dialysis. Polycystic kidney disease leada to endstage renal disease in approximately 50 percent of affected people by age 60. It actually isa systemic disease with both renal and extrarenal manifestations. Cysts may develop in other organs such as the liver and pancreas. Mitral valve defects, cerebral aneurysms, and intestinal diverticuli are clinically important extrarenal manifestations. The cysts in the kidneys arise from all segments of the nephron and increase in number and size over time. Hypertension complicates ADPKD in 30-70 percent of affected people and often occurs long before the onset of endstage renal disease.