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
计量
- 文章访问数: 491
- HTML全文浏览量: 11
- PDF下载量: 75
- 被引次数: 0
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

HTML全文

参考文献(13)

[1] BESUR S,HOU W,SCHMELTZER P,et al. Clinically important features of porphyrin and heme metabolism and the porphyrias[J]. Metabolites,2014,4(4):977-1006.

[2] KHALILI MJ,FARAHMAND F,HIRBOD-MOBARAKEH A,et al. Erythropoietic protoporphyria and early onset of cholestasis[J]. Turk J Pediatr,2012,54(6):645-650.

[3] WANG T,LIU YH,FANG K. A case of erythropoietic photoporphyria[J]. J Clin Dermatol,2011,40(6):361-362.(in Chinese)王涛，刘跃华，方凯．红细胞生成原性卟啉病1例[J]．临床皮肤科杂志，2011,40(6):361-362.

[4] LI XQ,SHI J,LAI YM,et al. Erythropoietic protoporphyria with jaundice as the main manifestation:A clinical,pathological,and genetic analysis of 4 cases[J]. J Clin Hepatol,2017,33(7):1332-1335.(in Chinese)李晓青，师杰，赖雅敏，等．4例以黄疸为主要表现的红细胞生成性原卟啉病临床、病理及遗传学分析[J]．临床肝胆病杂志，2017,33(7):1332-1335.

[5] HOLME SA,WORWOOD M,ANSTEY AV,et al. Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria[J]. Blood,2007,110(12):4108-4110.

[6] LECHA M,PUY H,DEYBACH JC. Erythropoietic protoporphyria[J]. Orphanet J Rare Dis,2009,4:19.

[7] BRUGUERA M,HERRERO C. Liver disease in erythropoietic protoporphyria[J]. Gastroenterol Hepatol,2005,28(10):632-636.

[8] HOLME SA,ANSTEY AV,FINLAY,et al. Erythropoietic protoporphyria in the U. K.:Clinical features and effect on quality of life[J]. Br J Dermatol,2006,155(3):574-581.

[9] ANSTEY AV,HIFT RJ. Liver disease in erythropoietic protoporphyria:Insights and implications for management[J]. Postgrad Med J,2007,83(986):739-748.

[10] CHEN Y,LI XQ. An excerpt of acute hepatic porphyrias recommendations for evaluation and long term management of the NCATS rare diseases clinical research network[J]. J Clin Hepatol,2017,33(11):2083-2086.(in Chinese)陈洋，李晓青．2017年美国推进转化科学中心罕见疾病临床研究网络卟啉病联合会:急性肝卟啉病的评估和长期管理建议》摘译[J]．临床肝胆病杂志，2017,33(11):2083-2086.

[11] ZHANG F,LU L,QIAN X,et al. Liver transplantation for erythropoietic protoporphyria with hepatic failure:A case report[J]. Transplant Proc,2008,40(5):1774-1776.

[12] McGUIRE BM,BONKOVSKY HL,CARITHERS Jr RL,et al.Liver transplantation for erythropoietic protoporphyria liver disease[J]. Liver Transpl,2005,11(12):1590-1596.

[13] STAFFAN W,PER S,RENE A,et al. Liver transplantation for erythropoietic protoporphyria in Europe[J]. Liver Transpl,2011,17(9):1021-1026.

施引文献

资源附件(0)

访问统计