Oya Y, Sugawara Y, Honda M, Yoshii D, Isono K, Hayashida S, Yamamoto H, Inomata Y
Department of Transplantation/Pediatric Surgery, Postgraduate School of Life Science, Kumamoto University, Kumamoto, Japan.
Department of Transplantation/Pediatric Surgery, Postgraduate School of Life Science, Kumamoto University, Kumamoto, Japan.
Transplant Proc. 2017 Jun;49(5):1123-1125. doi: 10.1016/j.transproceed.2017.03.035.
Progressive familial intrahepatic cholestasis type 1 (PFIC1) is an inherited disease characterized by cholestatic features. We report two patients with PFIC1 who underwent liver retransplantation.
One patient was a 3-year-old female who underwent liver transplantation for PFIC1. She presented with severe diarrhea and fatty liver, and went into liver failure. She therefore underwent liver retransplantation and external biliary diversion 8 years after the initial liver transplantation. The explanted liver was histologically diagnosed with chronic rejection. Her intractable diarrhea stopped after the retransplantation. She was diagnosed with a fatty liver 8 months after the retransplantation and died 4 years after retransplantation due to bleeding from an ileostomy. The other patient was a 3-year-old male. This patient underwent liver retransplantation due to liver cirrhosis caused by steatohepatitis 9 years after the initial liver transplantation. The biliary tract was not diverted. He also experienced severe diarrhea after the retransplantation and requires home parenteral nutrition due to an eating disorder.
Liver transplantation is the only treatment to resolve life-threatening issues due to PFIC1, but requires further improvement as a therapeutic modality.
1型进行性家族性肝内胆汁淤积症（PFIC1）是一种以胆汁淤积为特征的遗传性疾病。我们报告了两名接受肝脏再次移植的PFIC1患者。
一名3岁女性因PFIC1接受肝移植。她出现严重腹泻和脂肪肝，并发展为肝衰竭。因此，在初次肝移植8年后，她接受了肝脏再次移植和外引流术。切除的肝脏经组织学诊断为慢性排斥反应。再次移植后，她顽固的腹泻停止了。再次移植8个月后她被诊断出患有脂肪肝，并在再次移植4年后因回肠造口术出血死亡。另一名患者是一名3岁男性。该患者在初次肝移植9年后因脂肪性肝炎导致的肝硬化接受了肝脏再次移植。未进行胆道改道。再次移植后他也出现了严重腹泻，由于饮食失调需要家庭肠外营养。
肝移植是解决PFIC1所致危及生命问题的唯一治疗方法，但作为一种治疗方式仍需进一步改进。
