摘要
目的通过对11例Dubin-Johnson综合征(DJS)患者的临床特征分析,加强临床医生对该疾病的认识,为临床诊断提供一定经验。方法收集2014年5月至2022年4月在郑州大学第一附属医院明确诊断为DJS的11例患者,回顾分析11例DJS患者的临床特征、实验室检查、组织学形态及相关基因结果。结果11例患者中,男9例,女2例,年龄6~57岁,平均22.7岁,病程2个月~40 a,平均73个月。11例患者中,10例因皮肤或巩膜黄染就诊,1例因小便黄就诊。11例DJS病例中血清总胆红素(T-Bil)均升高,均以直接胆红素(D-Bil)升高为主。1例患者谷丙转氨酶(GPT)约为正常值上限的2倍。1例自身免疫性抗体抗线粒体抗体M2(弱阳性),1例自身免疫性抗体抗核抗体+(1∶320)核颗粒型,其余9例均为阴性。B超显示1例肝脏轻度增大。组织学特征:肝小叶结构基本存在,肝细胞内见较多胆色素沉着,分布在胆小管周围,以肝小叶中央区明显;铁特殊染色显示颗粒均为阴性。结论DJS是一类罕见的常染色体阴性遗传性疾病,以持续性或间歇性黄疸为临床特征,D-Bil异常增高,其余生化指标正常,组织学以肝细胞内出现棕褐色颗粒为特征。肝脏病理及ABCC2基因检测可确诊。
Objective To strengthen clinicians’understanding of Dubin-Johnson syndrome(DJS)and provide some experience for clinical diagnosis through the clinical characteristics analysis of 11 cases of the disease.Methods A total of 11 patients with DJS diagnosed in the First Affiliated Hospital of Zhengzhou University from May 2014 to April 2022 were collected.Clinical features,laboratory tests,histological morphology and related gene results of 11 patients with DJS were retrospectively analyzed.Results Among 11 patients,there were 9 males and 2 females,ranged from 6 to 57 years old,with an average of 22.7 years old.The course of disease ranged from 2 months to 40 years,with an average of 73 months.Of the 11 patients,10 cases were diagnosed with yellow skin or sclera,and 1 case was diagnosed with yellow urine.Serum total bilirubin(T-Bil)was increased in 11 cases of DJS,mainly direct bilirubin(D-Bil).Glutamic-pyruvic transaminase(GPT)was about twice the upper limit of normal value in 1 patient.One case of autoimmunity antibody was anti-mitochondrial antibody M2(weakly positive),one case of autoimmunity antibody was anti-nuclear antibody+(1∶320)nuclear particle type,and the other 9 cases were negative.B-mode ultrasound showed mild enlargement of liver in 1 case.Histological features:the hepatic lobule structure basically existed,and more bile pigmentation can be seen in liver cells,which was distributed around the ciliary duct,especially in the central region of the hepatic lobule.Iron special staining showed that the particles were negative.Conclusion DJS is a rare autosomal negative hereditary disease characterized by persistent or intermittent jaundice,abnormally high D-Bil,normal biochemical parameters,and the presence of tan granules in hepatocytes.Liver pathology and ABCC2 gene test can confirm the diagnosis.
作者
王亚丽
乔会菊
董燕红
刘茹
张素琴
WANG Yali;QIAO Huiju;DONG Yanhong;LIU Ru;ZHANG Suqin(Department of Pediatric Medicine,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处
《河南医学研究》
CAS
2022年第24期4437-4441,共5页
Henan Medical Research
基金
河南省医学科技攻关计划联合共建项目(LHGJ20190102)。
