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Published on: March 14, 2020
Liver transplantation in children with progressive familial intrahepatic cholestasis
Cornelia Englert1, Enke Grabhorn, Andrea Richter
1Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Germany.
Insights
Liver transplantation is the best treatment for children with Progressive Familial Intrahepatic Cholestasis (PFIC) when symptoms or cirrhosis are present. External biliary diversion is not recommended, but gene therapy may be a future option.
Area of Science:
- Hepatology
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Progressive Familial Intrahepatic Cholestasis (PFIC) results from genetic mutations affecting bile transport, leading to chronic liver failure.
- PFIC subtypes, particularly PFIC type 2 and PFIC type 3, manifest with symptoms like pruritus, cholestasis, cirrhosis, and growth retardation in children.
Purpose of the Study:
- To evaluate the efficacy of different treatment modalities for pediatric PFIC.
- To determine the optimal management strategy for PFIC, focusing on liver transplantation versus external biliary diversion.
Main Methods:
- Retrospective analysis of 42 children diagnosed with PFIC (26 with PFIC type 2, 16 with PFIC type 3).
- Assessment of outcomes following interventions including external biliary diversion and orthotopic liver transplantation (OLT).
Main Results:
- Orthotopic liver transplantation (OLT) resulted in excellent outcomes for 23 children.
- External biliary diversion was performed in 17 patients, with 10 subsequently requiring OLT.
- Three patients remained on the waitlist for OLT at the time of reporting.
Conclusions:
- Orthotopic liver transplantation (OLT) is the treatment of choice for symptomatic PFIC and cases with liver cirrhosis.
- External biliary diversion should be recommended restrictively due to limited long-term success.
- Gene therapy presents a potential future therapeutic avenue for pediatric PFIC.
Abstract:
Progressive familial intrahepatic cholestasis (PFIC) is caused by mutations of the bile salt export pump or the multidrug resistance P-glycoprotein, resulting in chronic hepatic failure. Partial external diversion of bile or ileal bypass is effective in some cases and, in others, liver transplantation (OLT) is necessary. Forty-two children were included in this study. Twenty-six children suffered from PFIC type 2 and 16 from PFIC type 3. Symptoms included pruritus, cholestasis, liver cirrhosis, and growth retardation. Seventeen patients received external biliary diversion. Ten had to undergo OLT in the following course. As of this report, three of the remaining patients were on the wait list for OLT. Twenty-three children received a liver graft primarily with excellent outcome. Our data show that OLT is the option of choice in symptomatic PFIC and whenever liver cirrhosis is present. We suggest a very restrictive recommendation of external biliary diversion. However, gene therapy may be a future option for children with PFIC.
