肝脏Wilson病的临床病理特征  

Clinicopathologic features of Wilson disease of the liver

作　　者：延永琴 郑智勇[1] 曾德华[1] 刘庆宏[1] 朱育连[1] 郑巧灵[1] 曲利娟[1] 

机构地区：[1]中国人民解放军南京军区福州总医院病理科福建医科大学福总临床医学院病理科,福建省福州市350025

出　　处：《世界华人消化杂志》2016年第5期782-789,共8页World Chinese Journal of Digestology

摘　　要：目的:探讨肝脏Wilson病(Wilson disease,W D)的临床病理特征、诊断、鉴别诊断、治疗方法和预后,以提高对WD的认识,尽早明确诊断.方法:对5例WD的肝脏穿刺活检组织进行HE、免疫组织化学、网纤/Masson、PAS、罗丹宁铜染色及透射电镜超微结构观察,并结合文献进行复习.结果:5例WD患者中,男性2例,女性3例,首诊年龄24-47岁,中位年龄38岁.临床主要表现黄疸、肝功能异常、眼底检查示角膜色素环(Kayser-Fleischer环,K-F环)等,所有病例血清铜蓝蛋白均>89.3 mg/L.光镜:中-重度慢性肝炎伴肝纤维化或肝硬化3例,轻度慢性肝炎1例,肝组织轻微病变1例;罗丹宁铜染色示肝细胞内多少不等的不均匀颗粒样物质沉积,部分病例以汇管区周围Ⅰ区带的肝细胞多见.电镜:肝细胞胞浆内可见高电子密度特征性Wilson颗粒,并见大小泡脂滴及色素颗粒小体.结论:WD的常规实验室检查、临床表现、光镜组织学改变均不具有特异性,电镜超微结构特征性Wilson颗粒是WD明确诊断的重要依据,故肝脏穿刺活检有助于WD的诊断.AIM：To discuss the clinicopathologic features of Wilson disease（WD） of the liver as well as its diagnosis,treatment and prognosis,so as to deepen the understanding of WD and benefit its early diagnosis.METHODS：Five WD biopsy specimens were examined by HE staining,Masson staining,PAS staining,and rhodanine staining.Cell ultra microstructure observation was enabled by utilizing an electron microscope.RESULTS：Among the 5 WD cases,2 were male.The age at first diagnosis was 24 to47 years,with a mean age of 38 years.Main clinical manifestations included jaundice,liver dysfunction,and Kayser-Fleischer loop indicated by fundus examinations.All patients revealed a serum ceruloplasmin level less than 89.3 mg/L,and light microscopy suggested that 3 of them were chronic severe hepatitis cases with liver fibrosis or cirrhosis,1 suffered from mild chronic hepatitis and1 yielded minimal lesions in the hepatic tissue.Rhodamine staining showed deposit of heterogeneous and varying amounts of particles in hepatic cells,especially in those cells located in zone I around portal areas in some cases.Transmission electron microscopy showed Wilson particles with high electron density in the cytoplasm,accompanied with lipid droplets and/or pigmentary granular bodies.CONCLUSION：Routine laboratory tests,clinical features,as well as histological changes under a light microscope are unspecific in diagnosing WD,whereas Wilson particles detected by transmission electron microscopy can provide an important diagnostic basis for WD.Therefore,liver biopsy is conducive to diagnosis of WD.

关 键 词：WILSON病 肝豆状核变性 Wilson颗粒 罗丹宁铜染色 电镜 诊断 

分 类 号：R742.4[医药卫生—神经病学与精神病学]