Autosomal-dominante polyzystische Nierenerkrankung

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic renal disease, and it is even one of the most common hereditary diseases in man. In 85% of the cases the disease is caused by mutations in the PKD1 gene, which encodes for the ciliary protein polycystin-1. A milder variant of the disease is caused by mutations in the PKD2 gene, which encodes for the calcium channel-related protein polycystin-2. The disease is characterized by the progressive development of innumerable cysts in both kidneys, which gradually replace the normal kidney tissue. In ADPKD patients the inexorable cyst growth leads to a progressive deterioration of renal function over decades, which ultimately can only be treated by renal replacement therapy or renal transplantation. Until now a causal treatment was not available, and treatment options were limited to regular clinical controls and treatment of complications (hypertension, cyst infections). Several promising clinical studies are currently examining new or even existing drugs as therapeutic options to retard cyst growth in ADPKD (vasopressin receptor-2 antagonists [V2RA], mammalian target of rapamycin [mTOR] inhibitors, somatostatin). It can be anticipated that ADPKD patients will benefit from these new treatment options in the near future.