先天性肝纤维化的临床分析

Clinical analysis of congenital hepatic fibrosis

目的探讨先天性肝纤维化(CHF)的临床特点,提高对该病的认识。方法对8例CHF患者的临床症状、体征、实验室检查、影像学检查、病理学特征、治疗及随访进行回顾性分析。结果 8例患者均经肝组织病理诊断为CHF,8例均有门脉高压症状,7例呕血、黑便,8例肝脾肿大(5例脾切除术后),5例肝硬化,5例腹水,3例肝功能轻度异常,1例伴有先天性胆总管囊肿,2例伴有先天性肝内胆管扩张(Caroli病),3例伴有双肾弥漫性实质损害,3例伴有门静脉海绵样变性。入院前5例因出血行脾切除术,再发出血后行内镜下治疗;6例经内镜下治疗效果良好。结论 CHF临床上罕见,大部分患者在年幼时发病,对于有门脉高压或表现为消化道出血、肝脾肿大的年轻患者应想到该病的可能,尽早行肝组织活检病理检查以协助诊治。内镜治疗和脾切除术是治疗的主要方法。

Objective To improve the understanding of the disease by analyzing the clinical features of congenital hepatic fibrosis （CHF）. Methods The clinical symptoms, signs, laboratory examination, imaging studies, pathologic characteristics, treatment and follow-up of 8 patients with CHF were analyzed retrospectively. Results Eight patients with CHF were confirmed by pathological results. Male to female was 5：3, age ranging from 11 to 47 years old, with mean age of （20.38 ~ 11.22） years old. All the patients with CHF presented the symptoms of portal hypertension, 7 patients with hematemesis and melena, 8 patients with hepatosplenomegaly （5 patients had been treated with splenecto- my）, 5 patients with cirrhosis, 5 patients with ascites, 3 patients with mild liver dysfunction, 1 patient with congenital cyst of common bile duct, 2 patients with congenital intrahepatic bile duct dilatation, 3 patients with renal diffuse paren- ehymal lesions, 3 patients with cavernous transformation of portal vein. Five patients underwent splenectomy due to gas- trointestinal bleeding and received endoscopic therapy after recurrence of hemorrhage. The endoscopic therapy was effec- tive in 6 patients. Conclusion CHF is a rare disease, most of the patients are found in adolescent. CHF should be considered while gastroesophageal variceal bleeding or the splenomegaly are found in young patients. Liver biopsy for pathologic examination should be carried out as soon as possible to assist in the diagnosis and treatment afterwards. En- doscopic therapy and splenectomy are effective therapies for complications of CHF.