International Journal of General Medicine (Jan 2023)

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

  • Li D,
  • Mao K,
  • Sun J,
  • Liu J,
  • Zhang C

Journal volume & issue
Vol. Volume 16
pp. 77 – 83

Abstract

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Dalei Li, Kangwei Mao, Jun Sun, Jiangyang Liu, Chenxi Zhang Department of Pediatric Internal Medicine, The First People’s Hospital of Lianyungang & Xuzhou Medical University Affiliated Hospital of Lianyungang & The First Affiliated Hospital of Kangda College of Nanjing Medical University, Lianyungang, 222061, People’s Republic of ChinaCorrespondence: Kangwei Mao, Department of Pediatric Internal Medicine, The First People’s Hospital of Lianyungang & Xuzhou Medical University Affiliated Hospital of Lianyungang & The First Affiliated Hospital of Kangda College of Nanjing Medical University, No. 6 Zhenhua East Road, Haizhou District, Lianyungang, Jiangsu, 222061, People’s Republic of China, Email [email protected]: 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.Keywords: Alagille syndrome, cholestasis, genetic testing

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