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

摘要

目的 探讨红细胞生成性原卟啉病的临床、病理及遗传学特点,以期提高对该病肝脏受累的认识.方法 回顾性分析2011年7月-2014年9月在北京协和医院住院的4例以黄疸为主要表现的红细胞生成性原卟啉病患者的临床特征、肝组织病理以及突变基因特点.结果 4例患者均以急性/亚急性起病,肝内胆汁淤积性黄疸为主要临床特征,肝功能:GGT 425~1152 U/L,ALP 196~356 U/L,TBil 287~485 μmol/L,DBil 216~394 μmol/L.追溯4例患者年幼即出现典型日照后皮肤疼痛、红斑、水疱.进一步检查红细胞游离原卟啉49.8~113.1 μg/gHb,肝脏组织病理在偏光显微镜下均可见"Maltese"十字,并检测到FECH基因不同位点的突变.结论 对于肝内胆汁淤积性肝病合并典型日照后痛性红斑,应警惕红细胞生成性原卟啉病,皮肤/肝脏病理、红细胞内原卟啉、FECH基因检测有助于该病的诊断.%Objective To investigate the clinical, pathological, and genetic features of erythropoietic protoporphyria, and to enhance the knowledge of liver involvement in this disease.MethodsWTBZ A retrospective analysis was performed for the clinical data of 4 patients with erythropoietic protoporphyria with jaundice as the main manifestation who were hospitalized in Peking Union Medical College Hospital from July 2011 to September 2014, including clinical features, liver pathology, and gene mutations.Results All the children had an acute/subacute onset, with intrahepatic cholestatic jaundice as the main clinical feature.The liver function test showed gamma-glutamyl transpeptidase 425-1152 U/L, alkaline phosphatase 196-356 U/L, total bilirubin 287-485 μmol/L, and direct bilirubin 216-394 μmol/L.All the patients experienced typical skin pain, erythema, and blisters after sunshine in their childhood.Further examinations showed free erythrocyte protoporphyrin 49.8-113.1 μg/gHb, liver pathological examination showed "Maltese" cross under a polarizing microscope, and mutations at different loci of FECH gene were detected.Conclusion For patients with intrahepatic cholestatic liver disease with typical painful erythema after sunshine, the possibility of erythropoietic protoporphyria should be considered.Skin/liver pathology, erythrocyte protoporphyrin, and FECH gene detection help with the diagnosis of this disease.