Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center.

Background: This study aimed to explore the clinical predictors of Alagille syndrome (ALGS) in children and to provide a basis for early diagnosis.

Methods: We retrospectively analyzed the clinical data of 14 children diagnosed with ALGS at the First People's Hospital of Lianyungang City from March 2016 to March 2021 and followed up the children.

Results: Among the 14 patients, 9 (64.28%) had cholestasis, 12 (85.71%) had heart malformations, 13 (92.85%) had characteristic facial features, 2 (14.28%) had pruritus, and 2 (14.28%) had a positive family history. Among the 13 patients who were examined by pediatric ophthalmologists, 3 patients had ocular lesions. Among the 13 patients who underwent spine radiography, 2 had typical butterfly vertebrae. Among the 6 patients with hepatic pathology, 2 had intracellular cholestasis, 2 had reduced or no small bile duct in the portal area, 2 had small bile duct hyperplasia with massive fibrous hyperplasia and extensive inflammatory cell infiltration, and 2 underwent biliary tract exploration. Genetic testing of 12 children with ALGS revealed JAG1 gene mutations in 7 cases and NOTCH2 gene mutations in 2 cases. The abovementioned two mutant genes were not detected in any of the 3 cases. Among the 12 followed-up patients, 7 were in stable condition, 5 underwent liver transplantation, and 1 died of severe pneumonia.

Conclusion: Cholestatic liver disease, cardiac malformations, and abnormal facial development are predictors of ALGS in children and can be definitively diagnosed by genetic testing.