儿童红细胞生成性原卟啉病多器官功能衰竭一例并文献复习

doi:10.12114/j.issn.1007-9572.2021.01.014

摘要/Abstract

摘要： 红细胞生成性原卟啉病是一种罕见病，其病因是患者体内基因突变（FECH基因）引起的亚铁螯合酶活性受损。本文通过回顾1例红细胞生成性原卟啉病患儿的临床资料以及相关基因的检测结果，并进行文献复习，探讨红细胞生成性原卟啉病的临床特点及致病基因的突变位点，以提高临床医生对该病的认识。对临床上反复曝光部位的皮疹，尤其伴有腹痛、肝损害时，应警惕红细胞生成性原卟啉病，FECH基因检测有助于该病的诊断。

关键词: 原卟啉病, 红细胞生成性；红细胞生成性原卟啉病；腹痛；多器官功能衰竭；光变态反应；FECH基因

Abstract: Erythropoietic protoporphyria is a rare disease characterized by impaired activity of ferrochelatase caused by FECH genetic mutations. This study reviewed the clinical data and results of gene analysis of a child with erythropoietic protoporphyria and relevant studies，and discussed the features of this disease and mutation sites of pathogenic genes，in order to improve clinical understanding of erythropoietic protoporphyria. Clinical attention should be paid to warning signs of erythropoietic protoporphyria，such as recurring rashes in the parts of the skin exposed to sunlight，especially accompanied with abdominal pain and liver damage，FECH gene test is helpful for the diagnosis of the disease.

Key words: Protoporphyria, erythropoietic；Erythropoietic protoporphyria；Abdominal pain；Multiple organ failure；Photoallergy；FECH gene

马春苗,于辛酉,陆彪,等. 儿童红细胞生成性原卟啉病多器官功能衰竭一例并文献复习[J]. 中国全科医学, 2021, 24(32): 4160-4164. DOI: 10.12114/j.issn.1007-9572.2021.01.014.
MA Chunmiao,YU Xinyou,LU Biao, et al. Erythropoietic Protoporphyria with Multiple Organ Failure in Children：a Case Report and Literature Review　[J]. Chinese General Practice, 2021, 24(32): 4160-4164. DOI: 10.12114/j.issn.1007-9572.2021.01.014.

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