Dubin-Johnson综合征1例  

A case of Dubin-Johnson syndrome

作　　者：杨敏 宋丹丹 李洁蕊 刘秀琴[2] YANG Min;SONG Dandan;LI Jierui;LIU Xiuqin(School of Clinical Medicine,Weifang Medical University,Weifang,Shandong 261053,China;Department of Pediatrics,Qingdao Municipal Hospital,Qingdao,Shandong 266071,China)

机构地区：[1]潍坊医学院临床医学院,山东潍坊261053 [2]青岛市市立医院儿科,山东青岛266071

出　　处：《中国优生与遗传杂志》2024年第2期374-376,共3页Chinese Journal of Birth Health & Heredity

基　　金：青岛市市立医院临床诊疗技术创新基金(CXJJ-009)。

摘　　要：目的 报道1例Dubin-Johnson综合征患儿的临床特征及治疗方法,并复习相关文献,为本病的诊治提供参考。方法 对青岛市立医院诊治的1例ABCC2基因变异引起的Dubin-Johnson综合征的临床表现及基因进行回顾分析。结果 患儿,女,4岁7月,因“腹痛2周,呕吐4 d”就诊,辅助检查示:胆囊结石及胆总管结石伴肝功能异常,基因检查在ABCC2基因发现同时存在c.2366C>T(p.S789F)和c.3499G>A(p.V1167I)2个变异位点,后者未见相关文献报道。给予头孢哌酮舒巴坦钠抗感染效果欠佳,经多学科会诊后行ERCP术治疗,患儿腹痛、呕吐症状消失,肝功能恢复正常。结论 ABCC2是Dubin-Johnson综合征的致病基因,基因检测是确诊该病的重要依据;该病一般预后较好,通常无需特殊治疗,针对该患儿,ERCP术相对保守治疗,效果更好。Objective To report the clinical features and treatment of a child with Dubin-Johnson syndrome,and to review the relevant literature for the diagnosis and treatment of this disease.Methods The clinical manifestations and genes of a case of Dubin-Johnson syndrome caused by ABCC2 gene variant diagnosed and treated in Qingdao Municipal Hospital were retrospectively analyzed.Results The female patient,who was 4 years and 7 months old,had been experiencing stomach pain for two weeks and had been vomiting for four days.Gallbladder stones and choledocholithiasis with abnormal hepatic function were discovered during the auxiliary examination,and genetic testing identified two mutation loci in the ABCC2 gene,c.2366C>T(p.S789F) and c.3499G>A(p.V1167I).The latter has not been mentioned in any published works.After an ineffective attempt to treat the infection with cefoperazone sodium and sulbactam sodium,an ERCP was carried out following multidisciplinary consultation,and the child's abdominal pain,vomiting,and liver function all subsided.Conclusion ABCC2is the causative gene for Dubin-Johnson syndrome,and genetic testing is an important basis for the diagnosis of this disease.The disease generally has a good prognosis and usually requires no specific treatment.For this child,ERCP is more effective,as opposed to conservative treatment.

关 键 词：DUBIN-JOHNSON综合征 ABCC2基因 胆囊结石 胆总管结石 

分 类 号：R725.9[医药卫生—儿科]