Cholestasis is a pathological condition in which the production of bile by the liver is disturbed. The causes for cholestasis can be quite variable, from genetic defects in hepatic transport proteins to side effects of drugs or damaging effects of the immune system towards its own liver (“auto-immunity”). The consequences of cholestasis are determined by the accumulation of compounds that normally are secreted into the bile, and by absence of for example bile acids in the intestine. The accumulation of bile compounds in the body can cause jaundice (accumulation of bilirubin) and liver damage (accumulation of bile acids). The absence of bile acids in the intestine causes decreased absorption of dietary fats and fat-soluble vitamins, leading to a poor nutritional condition and impaired development.
Our research concentrates on the mechanisms, consequences and treatments of these diseases, including liver transplantation. We perform studies in patients (randomized controlled trials, registries, bile acid analyses) and in model systems (in vitro, experimental animal models).
Impact
Our studies have resulted in changes in the treatment of patients with Bile Acid Export Pump-deficiency (PFIC2), in the national vitamin K prophylaxis for breast-fed infants, in understanding the mechanism of (non-)responsiveness to surgical and medical interruption of FIC1 deficiency (PFIC1) and Bile Acid Export Pump-deficiency (PFIC2) and others. It is anticipated that the recent progress made in these areas and the development of new drugs and animal models will allow to further personalize effective treatment modalities for patients with cholestasis.
Teamwork paves the way to societal transformation
Close collaboration between medical doctors from various disciplines in the hospital (dr. W.S. (Willem) Lexmond, dr. F.A.J.A. (Frank) Bodewes, Prof. Dr. V.E. (Vincent) de Meijer) and with researchers in the laboratory (Prof. Dr. F. (Folkert) Kuipers, Dr. J.F. (JanFreark) de Boer, Prof.dr. J.W. (Hans) Jonker) has been proven very successful in our collaborative, translational research initiatives. The epidemiological research on the rare genetic cholestatic liver diseases has resulted in collaborations with more than 100 expert centers worldwide, upon the initiation and further development by our group of two global registries, NAPPED and TreatFIC.
Pediatric Gastroenterology/Hepatology
Beatrix Children's Hospital - University Medical Center Groningen
Hanzeplein 1
9713 GZ Groningen
The Netherlands
Pediatric Gastroenterology/Hepatology
Room Y4.181; HPC CA31
Beatrix Children's Hospital - University Medical Center Groningen
Hanzeplein 1
The Netherlands
