先天性肝纤维化20例的临床及病理特征

Clinical and pathological features of 20 cases of congenital hepatic fibrosis

目的探讨先天性肝纤维化(CHF)的临床病理特征。方法收集2017-2023年四川大学华西医院CHF病例20例,进行临床及病理特征分析。结果20例患者中,男性8例,女性12例,中位发病年龄21.5岁。主要临床表现为肝硬化、门静脉高压及上消化道出血。病理学特征为汇管区弥漫性纤维化,形成宽窄不一的纤维间隔,分割肝实质,细胆管增生。1例(5%)并Caroli病,1例(5%)并HNF1α肝细胞腺瘤。免疫组织化学谷氨酰胺合成酶检测示75%CHF为腺泡3区的阳性表达。结论CHF主要临床表现为门静脉高压及其并发症,组织学检查是诊断金标准。对儿童或青少年发现门静脉高压症,但无肝炎病史,合并肾病者,应首先考虑CHF的可能性。谷氨酰胺合成酶免疫组织化学检查腺泡3区的阳性模式有助于CHF的诊断,对预后有一定的提示作用。

Objective To investigate the clinical and pathological features of congenital hepatic fibrosis(CHF).Methods The clinical and pathological findings of 20 patients diagnosed with CHF from 2017 to 2023 were retrospectively analyzed.Results Among the 20 patients,8 were males and 12 were females with a median age of 21.5 years.Mostly patients were admitted to the hospital with cirrhosis,portal hypertension and upper gastrointestinal bleeding.Pathological features were diffuse fibrosis in the portal area,formation of fibrous septa of varying width,segmentation of the liver parenchyma,with hyperplasia of small bile ducts.Among them,1 case(5%)was complicated with Caroli's disease,and 1 case(5%)was HNF1αhepatocellular adenoma.IHC GS showed that was positively expressed in acinar region 3 in 75%cases.Conclusion CHF is mainly manifested by portal hypertension and its complications.Histopathology is the gold standard for diagnosis.The possibility of CHF should be considered first in children and adolescents with portal hypertension but no history of hepatitis,and complicated kidney disease.The positive pattern of acinus-3 region of GS in IHC is helpful for the diagnosis of CHF.