肝移植术后卟啉病复发1例报告

王洪波; 李丽昕; 于雁宾; 孟令展; 白瑛; 李晓东; 孙艳玲; 刘振文

doi:10.3969/j.issn.1001-5256.2020.11.032

肝移植术后卟啉病复发1例报告

DOI: 10.3969/j.issn.1001-5256.2020.11.032

1. 解放军总医院第五医学中心肝脏移植科
2. 解放军总医院第五医学中心病理科

详细信息

中图分类号: R657.3;R589.8
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出版历程
- 出版日期: 2020-11-20

Recurrence of erythropoietic protoporphyria after liver transplantation:A case report and literature review

Department of Liver Transplantation,The Fifth Medical Center of PLA General Hospital
Department of Pathology,The Fifth Medical Center of PLA General Hospital

摘要

摘要:
<正>卟啉病是一种由于血红素生物合成途径中所需酶的缺陷导致的遗传性和代谢性疾病,其代谢途径中8种酶的缺乏可导致8种亚型卟啉病,多数卟啉病为常染色体显性遗传病,最常见的3种亚型包括:急性间歇性卟啉病、迟发性皮肤卟啉病和红细胞生成性原卟啉病（erythropoieticprotoporphyria,EPP）。EPP是卟啉病的一种亚型,由于亚铁螯合酶（ferrochelatase,FECH）基因的突变,导致线粒体铁螯合酶的缺陷,引起原卟啉在红细胞、血浆、肝脏和皮肤的蓄积[1],出现相应的临床症状。
- 卟啉病,红细胞生成性 /
- 肝移植 /
- 复发
- porphyria,erythropoietic /
- liver transplantation /
- recurrence

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参考文献(13)

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