Autosomal recessive polycystic kidney disease. Clinical aspects, therapeutic options and new developments [Autosomal-rezessive polyzystische nierenerkrankung. Klinik, therapeutische optionen und neue entwicklungen]

Cystic kidney diseases are among the most important causes of end stage renal disease in children and adults. While the frequent autosomal dominant polycystic kidney disease (ADPKD) typically becomes clinically important in adulthood, the rare autosomal recessive polycystic kidney disease (ARPKD) is a severe disorder usually of early childhood. ARPKD is caused by mutations in the PKHD1 gene encoding the ciliary protein fibrocystin and is characterized by massively enlarged bilateral reniform and cystic kidneys. Liver involvement as congenital hepatic fibrosis is obligatory and may lead to portal hypertension. Furthermore, arterial hypertension that may sometimes be severe and pronounced pulmonary hypoplasia are frequent findings. Overall there is great clinical variability. Just like other genetic cystic kidney diseases ARPKD is considered to be a ciliopathy and thus a systemic disorder. The cellular and molecular pathophysiological mechanisms remain poorly understood. Currently there are therefore no accepted causative or evidence-based treatment approaches. In addition to the symptomatic treatment of chronic kidney disease and arterial hypertension, therapy of portal hypertension is highly relevant. Kidney, liver or combined liver and kidney transplantation may be necessary. Despite massive progress in neonatal intensive care, pulmonary hypoplasia frequently remains a major therapeutic challenge. In this article we describe the clinical course, therapeutic options and recent developments in the field of ARPKD. © 2014 Springer-Verlag.