McGuire Brendan M, Bonkovsky Herbert L, Carithers Robert L, Chung Raymond T, Goldstein Leonard I, Lake John R, Lok Anna S, Potter Carol J, Rand Elizabeth, Voigt Michael D, Davis Pamela R, Bloomer Joseph R
Department of Medicine, University of Alabama at Birmingham, 1530 Third Avenue South, Birmingham, AL 35294-0005, USA.
Liver Transpl. 2005 Dec;11(12):1590-6. doi: 10.1002/lt.20620.
In erythropoietic protoporphyria (EPP), there is excessive production of protoporphyrin, primarily in the bone marrow, resulting in increased biliary excretion of this heme precursor. Some patients will develop progressive liver disease that may ultimately require liver transplantation. However, excessive production of protoporphyrin by the bone marrow continues after transplantation, which may cause recurrent disease in the allograft. This study was performed to define post-transplant survival, the risk of recurrent disease, and specific management issues in patients transplanted for EPP liver disease. The patients studied consisted of twelve males and eight females, with an average age of 31 (range, 13-56) years at the time of transplantation. The estimated maximum MELD score prior to transplant was 21 (range, 15-29). Unique complications in the perioperative period were light induced tissue damage in four patients and neuropathy in six, requiring prolonged mechanical ventilation in four. Patient and graft survival rates were 85% at 1 year, 69% at 5 years, and 47% at 10 years. Recurrent EPP liver disease occurred in 11 of 17 patients (65%) who survived more than 2 months. Three patients were retransplanted at 1.8, 12.6, and 14.5 years after the initial transplant for recurrent EPP liver disease. In conclusion, the 5-year patient survival rate in patients transplanted for EPP liver disease is good, but the recurrence of EPP liver disease appears to diminish long term graft and patient survival.
在红细胞生成性原卟啉病（EPP）中，原卟啉产生过多，主要在骨髓中，导致这种血红素前体的胆汁排泄增加。一些患者会发展为进行性肝病，最终可能需要肝移植。然而，移植后骨髓中原卟啉的产生仍会过多，这可能导致同种异体移植中疾病复发。本研究旨在确定因EPP肝病接受移植的患者的移植后生存率、疾病复发风险及具体管理问题。研究的患者包括12名男性和8名女性，移植时平均年龄为31岁（范围13 - 56岁）。移植前估计的最大终末期肝病模型（MELD）评分是21分（范围15 - 29分）。围手术期的独特并发症包括4例患者出现光诱导组织损伤，6例出现神经病变，4例需要延长机械通气时间。患者和移植物生存率1年时为85%，5年时为69%，10年时为47%。17例存活超过2个月的患者中有11例（65%）发生了EPP肝病复发。3例患者在初次移植后1.8年、12.6年和14.5年因EPP肝病复发接受了再次移植。总之，因EPP肝病接受移植的患者5年生存率良好，但EPP肝病复发似乎会降低长期移植物和患者生存率。
