Multidisciplinary management and follow-up study of Alagille syndrome
10.3760/cma.j.issn.1673-4408.2023.06.011
- VernacularTitle:Alagille综合征多学科管理及随访研究
- Author:
Jixue XU
1
;
Mingyu ZHANG
;
Zhiqin MAO
;
Jing GUO
Author Information
1. 中国医科大学第一临床学院，沈阳 110000
- Keywords:
Alagille syndrome;
Cholestasis;
Multidisciplinary management
- From:
International Journal of Pediatrics
2023;50(6):410-414
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the multidisciplinary management that centred on gastroenterology department, and follow-up study of children with Alagille syndrome(ALGS).Methods:The clinical data of 19 children diagnosed with ALGS in Pediatric Gastroenterology Department, Shengjing Hospital of China Medical University since June 2013 to December 2022 was retrospectively analyzed, and the clinical manifestations of various systems of the body were followed up and evaluated, and then developed the personalised management strategies.Results:Among the 19 confirmed patients, 18 cases were confirmed by genetic testing.Eighteen cases(94.7%) had characteristic facial features.To follow-up node, 8 cases(42.1%) had cholestasis, with alanine aminotransferase(210.20±110.50)U/L, aspartate aminotransferase(187.86±96.70)U/L, and direct bilirubin(110.93±108.15)μmol/L.Eighteen cases(94.7%) had pruritus.Eighteen cases(94.7%) of the patients had a high risk of malnutrition, and the level of total bilirubin[(76.17±107.34)μmol/L] and total bile acid[(100.18±83.78)μmol/L] were significantly increased in the children with obvious growth retardation.Thirteen cases(68.42%) had diffuse liver injury.The clinical opinions on genetic counseling, application of new drugs, liver transplantation, cardiac medicine and surgery follow-up, spine and oral surgery orthodontics were given by multiple disciplines.Conclusion:ALGS children have a high risk of long-term malnutrition and are associated with the severity of liver injury, and pruritus and jaundice are the main clinical manifestations.The management of ALGS patients should be centered around liver disease doctors, combined with multiple disciplines, paying attention to changes in various related organs of ALGS patients, and improving their quality of life.
