Polycystic kidney disease

Autosomal dominant polycystic kidney disease ( ADPKD) is a common heritable form of renal cystic disease with an incidence of up to 1 in 400 live births [ 1 , 2 ]. It is one of the most common monogenetic disorders in the USA and is also the most common heritable cause of renal failure, accounting for up to 15 % of all patients receiving hemodialysis [ 2 – 4 ]. Its genetic pattern of inheritance has been extensively studied and generally transmits in the expected autosomal dominant fashion. Although up to 10 % of cases present sporadically, the presence of other contributory loci is the focus of ongoing investigation [ 5 – 7 ]. The age of onset of ADPKD is predictably in the 4th or 5th decade of life, with penetrance approaching 100 % for all patients who live long enough. Rare cases in infants and children do occur and tend to portend a more aggressive form of the disease; but for the stereotypical adult patient, progression to serious manifestations, like renal failure, rarely occurs before the 4th decade of life [ 8 ]. ADPKD is a heterogeneous disease once it manifests. Associated anomalies are commonly co-expressed, including cysts of the liver, pancreas, spleen, seminal vesicles, arachnoid membrane, and lungs. Noncystic lesions include berry aneurysms (vascular aneurysms of the circle of Willis), colonic diverticula, aortic aneurysms, and mitral valve prolapse [ 9 ].