Clinical Features Of 14 Children With Congenital Hepatic Fibrosis And Literature Review

ObjectiveRetrospectively analyzed the Clinical features of 14 children with congenital liver fibrosis,and the related literatures were reviewed to deepen the understanding of the disease,so as to intervene and prevent complications as soon as possible and prolong the life of children.Method1.Collected the clinical data of 14 children with congenital liver fibrosis admitted to the First Affiliated Hospital of Guangxi Medical University from January 2012 to August 2020;2.The key words of "congenital hepatic fibrosis,PKHD1" were searched in Pub Med、CNKI、Wanfang database、China Science and Technology Journal Database from 2000 to 2020;3.According to the clinical manifestations,they were divided into group A(portal hypertension type)and group B(mixed type).The clinical manifestations,laboratory examination,histopathology,gene detection,treatment and follow-up results of the two groups were summarized and analyzed.Result1.General data: there were 23 cases in group A,6 cases in group B,11 males and 18 females,the ratio of male to female was 1:1.6,the average age at the time of treatment was 8.3±4.6 years old,the average age at the time of treatment was 7.8±4.5 years old in group A,and 10.1±4.6 years old in group B.There was no significant difference in the average age between the two groups(t=1.093,P=0.284,P>0.05).2.Clinical manifestations: the most common clinical manifestations were hepatomegaly 55.1%(16/29 cases),splenomegaly 51.7%(15/29 cases),followed by gastrointestinal bleeding 24.1%(7/29 cases),fever 17.2%(5/29cases).There was no significant difference in the incidence of clinical manifestations between the two groups(P>0.05).3.Laboratory examination: the most common abnormal indexes were anemia 80.7%(21/26 cases),leucopenia 53.8%(14/26 cases),thrombocytopenia38.4%(10/26 cases),liver function damage(AST increased 35.7%(ALT increased by 25.0%,GGT increased by 39.2%),and there was no significant difference between the two groups in blood routine and liver function related indexes.4.Imaging examination: the most common splenomegaly was 92.5%(25/27cases),hepatomegaly was 46.4%(13/27 cases).5.Endoscopic examination: the incidence of esophageal and gastric varices was 88.2%(15/17 cases).6.Liver histological examination: portal area widened and a large number of fibrosis;bile duct hyperplasia,cholestasis in some bile duct cavities;liver parenchymal cells were basically normal,and some of them showed punctate necrosis.7.Gene test: in case 1,case 2 and case 3,three new mutations were found in PKHD1 gene: c.10315G>T p.D3439 Y 、 c.8746G>T p.V2916 F 、c.281+2T>C splicing.8.Others: case 2 and case 3 were identical twins,their clinical manifestations and severity were different,but their genetic variation was same.Conclusion1.The incidence rate of CHF is low,the clinical manifestations are not specific,and it is easy to misdiagnose.When the liver and spleen enlargement is found,AST and ALT are normal or slightly elevated.2.Three new mutations were found in PKHD1 gene: c.10315G>T p.D3439Y、c.8746G>T p.V2916F、c.281+2T>C splicing3.The gene mutation is consistent,but the clinical phenotype and severity may be different.