先天性肝纤维化14例临床病理特点

目的总结先天性肝纤维化的临床特点,描述先天性肝纤维化时产生门静脉高压的病理形态学特点。方法回顾性分析2000年～2009年9月,北京友谊医院门诊及住院诊断为先天性肝纤维化患者的临床特点,对活检肝组织标本进行特殊染色及免疫组织化学染色。结果先天性肝纤维化14例,男女比例1.33：1,平均年龄（14.78±8.52）岁,临床主要表现为门脉高压症型占57.1%,胆管炎型占14.29%,混合型占7.14%。肝脾肿大为最主要的体征占85.7%。常见的合并症为多囊肾和肝内胆管扩张,即Caroli’s病各占14.28%。病理形态学观察提示先天性肝纤维化导致门脉高压的机制包括：门静脉发育不良,门脉数量减少,纤维间隔挤压门静脉。结论先天性肝纤维化是导致非肝硬化性门脉高压症的常见原因之一,掌握其临床及病理特点,有助于提高诊治水平。

Clinical and pathological features of patients with congenital hepatic fibrosis

Objective To summarize the clinical features of congenital hepatic fibrosis （CHF） and to describe pathological features of portal hypertension （PHT） in CHF.Methods A retrospective study was conducted on 14 pathologically confirmed CHF cases from 2000 to 2009 and pathological samples were analyzed by staining.Results The male to female ratio of CHF was 1.33∶1 among the patients.The mean age was 14.78±8.52 （Range 6 to 35 years）.Variceal bleeding caused by PHT （57.1%） and cholangitis （14.3%） were major clinical manifestations,while hepatomegaly and splenomegaly occurred in 85.7% of the cases.The common associated conditions include Caroli＇s disease （14.28%） and polycystic kidney diseases （14.28%）.Portal hypertension in CHF was caused by the paucity and malformation of portal vein branches and compression of portal vein branches by fibrotic bands.Conclusion CHF is one of the common causes of cirrhotic PTH.Understanding the clinical and pathological features CHF will contribute towards its diagnosis and management.