35例先天性肝纤维化患者的临床及病理特点

Clinical and pathological features of 35 patients with congenital hepatic fibrosis

目的总结先天性肝纤维化(CHF)的临床、影像学表现及病理特点。方法回顾性分析35例病理证实为CHF患者的临床和病理资料,分别将临床、影像学表现与病理特点进行比较研究。结果 35例患者中男20例,女15例,发病年龄2～52岁,平均年龄(19.71±2.04)岁,脾大21例(60.00%),肝大10例(28.57%),食管胃底静脉曲张15例(42.86%),上消化道出血和黑便10例(28.57%),贫血17例(48.57%),腹水14例(40.00%)。合并Caroli’s病10例(28.57%),肾囊肿4例(11.43%),胆管炎3例(8.57%),实验室检查示谷丙转氨酶(ALT)为(56.77±10.07)U/L,谷草转氨酶(AST)为(57.71±8.34)U/L,转氨酶出现轻度升高,30例患者影像学表现为肝硬化。以胆碱酯酶(CHE)正常值下限5 400 U/L为界,与CHE>5 400 U/L患者相比,CHE<5 400U/L的患者更易出现脾大,白蛋白、血红蛋白和红细胞总数出现明显下降(P<0.05)。病理学表现为肝实质细胞正常,门脉周围纤维化。结论 CHF临床上常见门脉高压,肝功能基本正常,肝活检是确诊的必要检查,CHE、ALB、HGB和RBC等指标降低程度能反映CHF疾病的严重程度。

Objective To evaluate clinical, biochemical and histological characteristics of congenital hepatic fibrosis （CHF）. Methods The clinical, biochemical and histological characteristics of 35 patients diagnosed as CHF were ret rospectively analyzed. Results The mean age of 35 patients （20 men, 15 women） was （19.71 ± 2.04） years old, ran ging from 2 to 52 years old. There were 21 cases with splenomegaly, 10 cases with hepatomegaly, 15 cases with esopha geal varices, 10 cases with upper digestive tract bleeding and malena, 17 cases with anemia, and 14 cases with ascites. 10 patients had an associated condition of Caroli＇ s disease, 4 patients had cystic kidney disease, 3 patients experienced cholangitis. The laboratory findings reveal mildly elevated aminotransferase levels. There were 30 cases of cirrhosis were detected by ultrasound examination. Patients with cholinesterase activity （CHE） lower than 5 400 U/L, splenomegaly could be detected more commonly than patients with CHE more than 5 400 U/L. In the patients with CHE lower than 5 400 U/L, the levels of albumin, hemoglobin and erythrocytes were lower in the patients with CHE more than 5 400 U/ L. Liver biopsy revealed that normal hepatic parenchyma and periportal fibrosis without inflammation. Conclusion CHF is often accompanied by portal hypertension, and the serum aminotransferase levels are characteristically normal. His topathologic findings on liver biopsy are the gold standard for diagnosis of CHF. The decreased level of CHE, albumin, hemoglobin and erythrocytes can help to distinguish the severity of CHF.