Our Experience of Living Related Liver Transplantation for PFIC Types 1 and 4

Abstract

Progressive familial intrahepatic cholestasis (PFIC), a rare cause of hepatic failure, is characterized by progressive cholestasis that begins in infancy. We report two cases of PFIC in patients who underwent living donor liver transplantation (LDLT) to treat this condition. This is the first report on LDLT performed for PFIC type 4 in Japan. [Case 1] An 11-year-old male adolescent underwent LDLT for PFIC type 1 secondary to deterioration of liver function following infectious enteritis. Although he underwent LDLT with complete biliary diversion, biliary secretion was inadequate, and he died 6 months after LDLT. [Case 2] A 4-year-old girl with PFIC type 4, who was initially clinically diagnosed with PFIC type 2 associated with the absence of bile salt export pump activity despite no significant genetic abnormality in PFIC2, underwent LDLT to treat her liver failure. Her postoperative course was uneventful, and she showed normal growth without any complaints over 6 years after LDLT. Although she was initially clinically diagnosed with PFIC type 2, she was finally diagnosed with PFIC type 4 on the basis of results of repeat genetic tests after LDLT, which showed a significant mutation in TJP2. The genetic diagnosis of PFIC is important in determining the type of disease for liver transplantation and other treatments.