Clinical and pathological features of 20 cases of congenital hepatic fibrosis
10.3760/cma.j.cn501113-20231107-00180
- VernacularTitle:先天性肝纤维化20例的临床及病理特征
- Author:
Ao WANG
1
;
Zijian LU
;
Xiafei GU
;
Jianping LIU
;
Changli LU
Author Information
1. 四川大学华西医院病理科，成都 610000
- Keywords:
Congenital hepatic fibrosis;
Portal hypertension;
Cirrhosis;
PKHD1 gene mutation
- From:
Chinese Journal of Hepatology
2023;31(11):1187-1191
- CountryChina
- Language:Chinese
-
Abstract:
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 HNF1α hepatocellular 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.
