Research Research groups Polycystic liver disease

About this research group

The ultimate goal of this group is to discover novel paradigms for effective treatment of patients. Our strategy starts with disease gene discovery followed by functional studies to understand cellular pathogenesis. The main focus is polycystic liver disease, a rare inherited liver disorder.

Research group leader

prof. dr. Joost Drenth

contact form


Our research aims are to improve the quality of life of patients with inherited polycystic liver disease.
  • We aim to design instruments in order to map/assess quality of life
  • We explore avenues to improve medical and non-medical treatment options for these patients
  • We aim to build a cell model that serves to test medical options in polycystic liver disease


Recent discoveries are made in diverse areas. read more



We demonstrated genetic heterogeneity which led to the identification of SEC63 as a 2nd PLD causing gene and LRP5 as the 3rd PLD causing gene. 


We discovered that cyst formation in both PLD and single liver cysts is mediated by somatic loss of heterozygosity of PLD genes


We discovered through a randomised clinical trial that somatostatin analogues reduce liver volume in ~80% PLD patients. Later studies found that particularly young female patients are susceptible to a strong reduction of polycystic liver volume and that those with a high serum alkaline phosphatase benefit most from somatostatin analogues. We initiated a multicentre international randomized clinical trial in 40 patients and discovered that ursodeoxycholic acid affects PLD liver volume in ADPKD. 

Interesting links