Autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease, usually abbreviated ADPKD, is the most common hereditary kidney disease and one of the most common life-threatening inherited human disorders. It belongs to the wider group of inherited cystic kidney diseases, which are marked by the growth of cysts in the kidneys together with a range of effects outside them. In ADPKD these extrarenal features include cysts in the liver, seminal vesicles, pancreas and arachnoid membrane, as well as intracranial aneurysms, aortic root dilatation, mitral valve prolapse and abdominal wall hernias. The disease varies widely between and within families, which is explained largely by its genetic heterogeneity and by modifier genes. More than half of patients eventually develop end stage kidney disease and need dialysis or a kidney transplant. It is estimated to affect at least one in every 1,000 people worldwide, with a diagnosed prevalence near 1 in 2,000.