Verwirrte Zilien – Zystennieren und hepatobiliäre Beteiligung

Ciliopathies are heterogeneous, genetically determined diseases often involving different organ systems. Patients with polycystic kidney disease frequently show extrarenal involvement, e.g. congenital liver fibrosis, choledochal cysts or Caroli’s syndrome. The most frequent polycystic kidney diseases include autosomal recessive (ARPKD) and autosomal dominant polycystic kidney disease (ADPKD) and the nephronophthisis-related ciliopathies (NPHP-RC), which can all show extrarenal symptoms. In ARPKD congenital liver fibrosis with portal hypertension is always present, in ADPKD liver cysts are typical and in patients with nephronophthisis in addition to fibrosis and cyst formation, hepatic pruritus is also frequently present. In addition, there are diverse rare syndromic diseases from the group of ciliopathies, which can show renal and also hepatic phenotypes. In patients with polycystic kidney disease and hepatobiliary involvement interdisciplinary management should be the standard as other organ systems can frequently be affected. The portal hypertension with the formation of varices can lead to severe complications. Hepatic pruritus can severely impair the quality of life of these patients. Apart from symptomatic treatment, liver transplantation can be considered an option in individual patients.