Clinical Features and Genetic Analysis of Pediatric Patients with Alagille Syndrome Presenting Initially with Liver Function Abnormalities

• Published in: Current medical science Vol. 38; no. 2; pp. 304 - 309
• Main Authors: Liu, Yan, Wang, Hong, Dong, Chen, Feng, Jie-xiong, Huang, Zhi-hua
• Format: Journal Article
• Language: English
• Published: Wuhan Huazhong University of Science and Technology 01.04.2018; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030,China%Genetic Diagnostic Centre, Department of Internal Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030,China%Department of Pediatric Surgery, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030,China
• Subjects: Medicine; Medicine & Public Health; infant; Alagille syndrome; cholestasis; gene; biochemical characteristics

Summary Alagille syndrome (AGS) is a multisystem disorder and caused by mutations in JAG1 or NOTCH2 gene. The diagnosis of AGS is hampered by its highly variable clinical manifestations. We performed a retrospective analysis on 16 children diagnosed as having AGS in recent five years in our hospital...