儿童进行性家族性肝内胆汁淤积症3型一例并文献复习  

Progressive familial intrahepatic cholestasis type 3:a case report and literature review

作　　者：郭淑仪 欧榕琼[1] 周敦华[1] 张碧红[1] 王海燕[1] 檀卫平[1] Guo Shuyi;Ou Rongqiong;Zhou Dunhua;Zhang Bihong;Wang Haiyan;Tan Weiping(Department of Pediatrics,Sun Yat-sen University Memorial Hospital,Guangzhou 510120,China)

机构地区：[1]中山大学孙逸仙纪念医院儿科,广州510120

出　　处：《新医学》2022年第7期503-509,共7页Journal of New Medicine

摘　　要：目的探讨进行性家族性肝内胆汁淤积症3型(PFIC3)的临床及遗传学特点。方法报道1例PFIC3病例。以“儿童”“进行性家族性肝内胆汁淤积症3型”(包括中英文)为检索词,对以下数据库的相关论文进行检索:PubMed、中国生物医学文献服务系统(SinoMed)、CNKI、万方数据知识服务平台、维普中文科技期刊数据库,收集并分析检索到的病例资料。结果该例为1岁男性患儿,临床表现为胆汁淤积性肝炎,基因测序分析显示其ATP结合盒转运蛋白A4(ABCB4)基因存在纯合错义突变:c.3230C>T(p.T1077M),突变来源于其父母。使用蛋白功能损伤预测软件预测该突变为有害。检索文献后收集到11例PFIC3患儿,部分患儿接受药物治疗,部分患儿接受肝移植,后者基本痊愈。结论PFIC3较罕见,临床以肝内胆汁淤积为特点,进行性加重,患儿常在儿童期或青春期因肝衰竭死亡,诊断依赖于基因检测,肝移植是唯一的治愈方法。该例患儿基因突变位点扩展了ABCB4基因突变谱,为PFIC3的诊断提供依据。Objective To investigate the clinical and genetic characteristics of progressive familial intrahepatic cholestasis type 3(PFIC3).Methods One case of PFIC3 was reported.Using the keywords of“child”and“progressive familial intrahepatic cholestasis type 3”in English and Chinese,literature review was conducted from PubMed,SinoMed,CNKI,Wanfang Data and Chongqing VIP databases.Clinical data of PFIC3 children were collected and analyzed.Results The patient was a one-year-old boy presenting with cholestatic hepatitis as the main clinical manifestation.Next-generation sequencing revealed a homozygous missense mutation of ATP-blinding cassette,sub-family B,member 4(ABCB4)gene as c.3230C>T(p.T1077M),which was inherited from his parents.Using a variety of bioinformatic software,the novel mutation was predicted to be pathogenic.A total of 11 children with PFIC3 were collected.Part of them received drug treatment and the other children underwent liver transplantation.Those undergoing liver transplantation were almost recovered.Conclusions PFIC3 is relatively rare in clinical practice,which is clinically characterized by progressive intrahepatic cholestasis.PFIC3 children constantly die from liver failure during childhood or adolescence.The diagnosis of PFIC3 depends on genetic testing.Liver transplantation is the only option.The gene mutation site of this case expands the ABCB4 gene mutation spectrum and may contribute to the diagnosis of PFIC3.

关 键 词：进行性家族性肝内胆汁淤积症 儿童 ABCB4基因 基因突变 

分 类 号：R725.7[医药卫生—儿科]