Characteristic analysis of 13 children with Alagille syndrome / 中华实用儿科临床杂志

ABSTRACT

Objective:To explore the characteristics of patients with Alagille syndrome(ALGS), so as to provide evidence for early clinical diagnosis.Methods:The clinical data of 13 children diagnosed with ALGS in Children′s Hospital of Chongqing Medical University from February 2014 to November 2018 was retrospectively analyzed, and some children were followed up.Results:Among the 13 patients, 12 cases(92.3%) had cholestasis, 8 cases(61.5%) with heart malformation, 5 cases(38.5%) with characteristic facial features, 5 cases(38.5%) with pruritus, and 1 case(7.7%) with a positive family history.Among the 7 pediatric ophthalmologists, 2 patients suffered from ocular lesions.Seven patients underwent spine radiography, and 1 patient had typical butterfly vertebra.In the 9 cases with hepatic pathology, 4 cases had partial hepatic sinus pressure or occlusion, 1 case had no small bile duct in part of the portal area, 4 cases had small bile duct hyperplasia, and 5 cases underwent biliary tract exploration.Genetic testing of 12 children with ALGS showed JAG1 gene mutation in 8 cases and NOTCH2 gene mutation in 4 cases.Among the 11 followed up patients, 8 cases were in stable condition, 1 patient with progressive cirrhosis was registered for liver transplantation, 1 patient died of liver failure, and 1 patient developed with drug-induced liver injury at the age of 4 months had progressive liver failure, and the jaundice was gradually subsided after liver transplantation. Conclusions:ALGS may appear on multiple systems involvement, and it demonstrates variable clinical expressivities and incomplete penetrance, thus bring certain difficulties to clinical diagnoses.It′s easily misdiagnosed as biliary atresia in infancy.Genetic testing is integral in the diagnosis of ALGS.