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  

Erythropoietic Protoporphyria with Multiple Organ Failure in Children:a Case Report and Literature Review

作　　者：马春苗 于辛酉 陆彪[3] 谢新宝[4] 梁丽俊[3] MA Chunmiao;YU Xinyou;LU Biao;XIE Xinbao;LIANG Lijun(Ningxia Medical University,Yinchuan 750004,China;Medical Experimental Center,General Hospital of Ningxia Medical University,Yinchuan 750000,China;Department of Pediatrics,General Hospital of Ningxia Medical University,Yinchuan 750004,China;Pediatric Liver Disease Center,Fudan University,Shanghai 201102,China)

机构地区：[1]宁夏医科大学,宁夏回族自治区银川市750004 [2]宁夏医科大学总医院医学实验中心,宁夏回族自治区银川市750000 [3]宁夏医科大学总医院儿科,宁夏回族自治区银川市750004 [4]复旦大学儿科学肝病中心,上海市201102

出　　处：《中国全科医学》2021年第32期4160-4164,共5页Chinese General Practice

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。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.

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 

分 类 号：R589.8[医药卫生—内分泌]