6例先天性肝纤维化患者的临床特征及病理学特点分析

Analysis on clinical characteristics and pathological characteristics of 6 cases of congenital liver fibrosis

目的探讨先天性肝纤维化(CHF)患者的临床特征、影像学和病理学特点。方法回顾性分析该院2011年1月至2021年6月经肝组织病理学确诊为CHF的6例患者病例资料,总结其症状表现、实验室指标、影像学特点、病理表现、治疗及转归。结果6例CHF患者临床分型主要以门脉高压型为主(66.67%),最常见的临床表现及体征是肝脾肿大(83.33%)、黑便(50.00%)和腹胀(33.33%)。4例(66.67%)总胆红素正常,仅2例轻度升高(33.33%);4例(66.67%)凝血酶原时间在正常范围,2例(33.33%)轻度异常。影像学提示6例(100.00%)肝脏形态异常,5例(83.33%)脾肿大,3例(50.00%)门静脉增宽,2例(33.33%)肝内胆管弥漫性扩张,1例(16.67%)合并Caroli病。病理学表现为肝实质细胞正常,门脉周围纤维化,汇管区-汇管区桥接样纤维化。6例患者接受常规护肝治疗,3例行脾切除+贲门周围血管离断术,平均随访时间68.2个月;1例因肝功能衰竭死亡,5例病情相对稳定。结论门静脉高压与肝功能损害程度不相符的肝病患者,特别是合并多囊肾病的患者,应尽可能完善肝穿刺病理检查及基因检测以明确诊断,及早进行遗传咨询及干预治疗。

Objective To explore the clinical features,imaging and pathological characteristics of the patients with congenital liver fibrosis(CHF).Methods The medical case data of 6 patients with pathologically diagnosed CHF in this hospital from January 2011 to June 2021 were retrospectively analyzed,and the clinical menifastations,laboratory indicators,imaging characteristics,pathological manifestations,treatment and outcomes were summarized.Results The clinical classification in 6 cases of CHF was mainly portal hypertension(66.67%),and the most common clinical manifestations and signs were hepatosplenomegaly(83.33%),melena(50.00%)and abdominal distension(33.33%).Total bilirubin was normal,and only 2 cases(33.33%)were mildly elevated.The prothrombin time was in the normal range in 4 cases(66.67%),and mild abnormality in 2 cases(33.33%).Imaging showed abnormal liver morphology in 6 cases,spleen enlargement in 5 cases(83.33%),portal vein widening in 3 cases(50.00%),diffuse dilatation of intrahepatic bile ducts in 2 cases(33.33%),and complicating Caroli disease in 1 case(16.67%).The pathological manifestations were normal liver parenchymal cells,periportal fibrosis,and manifold-manifold bridging-like fibrosis.Six cases received the conventional liver protection therapy,3 cases underwent splenectomy+pericardia vascular dissection,the median follow-up time was 68.2 months,1 case died due to liver failure,and 5 cases were relatively stable.Conclusion The patients with hepatic disease whose portal hypertension is inconsistent to the degree of hepatic function damage,especially those complicating polycystic kidney disease should perfect the liver puncture pathological examination and genetic testing to clarify the diagnosis,and conduct the genetic counseling and intervention treatment as soon as possible.