先天性肝纤维化47例临床特点及误诊分析

Clinical Characteristics and Misdiagnosis Analysis of 47 Patients with Congenital Hepatic Fibrosis

目的探讨先天性肝纤维化(congenital hepatic fibrosis,CHF)的临床特征及误诊原因,以提高诊断正确率。方法回顾性分析2006年1月—2012年12月我院收治的47例CHF临床资料。结果本组误诊44例,误诊率93.6%。主要表现为上消化道出血、肝脾大、轻度黄疸、血小板减低、发热及腹痛,34例(72.34%)肝功能异常,12例(25.53%)合并肾囊肿。46例行肝脏穿刺(肝穿)活检病理确诊CHF。1例未行肝穿,其同胞兄妹3人中有1人因肝硬化消化道出血去世,另1例已行肝穿活检病理确诊CHF。肝功能异常者中,17例(36.17%)误诊为病毒性肝炎,11例(23.40%)误诊为非嗜肝病毒性肝炎;8例(17.02%)误诊为药物性肝炎;8例(17.02%)因血小板减低误诊为血液系统疾病;5例在外院行肝脏穿刺活检仍误诊为肝炎。结论以食管胃底静脉曲张破裂出血、肝功能异常、血小板减低发病的儿童及青少年,应注意CHF,避免误诊为肝炎和血液系统疾病。

Objective To explore clinical characteristics and misdiagnosis causes of congenital hepatic fibrosis（CHF）,in order to improve the diagnosis rate.Methods Clinical data of 47 patients with congenital hepatic fibrosis in our hospital during January 2006 and December 2012 were retrospectively analyzed.Results In this group 44 patients were misdiagnosed,and the misdiagnosis rate was 93.6%.The main clinical manifestations were upper gastrointestinal bleeding,hepatosplenomegaly,mild jaundice,thrombocytopenia,fever and bellyache.A total of 34 patients（72.47%） suffered dysfunction of liver,and 12 patients（25.53%） suffered incorporated renal cysts.The 46 patients were confirmed as having CHF by hepatic puncture biopsy.The one patient did not undergo hepatic puncture biopsy.Among the patient＇s other two brothers or sisters,one died for alimentary tract hemorrhage inducted by hepatic cirrhosis,another was definitely diagnosed as having CHF by pathological result.In patients with dysfunction of liver,17 patients（36.17%） were misdiagnosed as having viral hepatitis,11 patients（23.40%） were misdiagnosed as having nonhepatotropic viral hepatitis;8 patients（17.02%） were misdiagnosed as having drug hepatitis;8 patients（17.02%） were misdiagnosed as having blood diseases because of thrombocytopenia;5 patients were still misdiagnosed as having hepatitis by liver biopsy in other hospitals.Conclusion Children with varicose bleeding,dysfunction of liver and thrombocytopenia should be suspected of having CHF in order to avoid misdiagnosis as hepatitis and blood diseases.