Clinical, pathological and genetic characteristics of 17 unrelated children with Alagille Syndrome.

Autor: Yan J; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Huang Y; Peking University 302 Clinical Medical School, 38 Xueyuan Road, 100191, Beijing, China.; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Cao L; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Dong Y; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Xu Z; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Wang F; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Gao Y; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Feng D; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China., Zhang M; Peking University 302 Clinical Medical School, 38 Xueyuan Road, 100191, Beijing, China. gcmw2001@163.com.; Senior Department of Liver Diseases, The Fifth Medical Center of Chinese PLA General Hospital, Beijing, China. gcmw2001@163.com.
Jazyk: angličtina
Zdroj: BMC pediatrics [BMC Pediatr] 2024 Aug 20; Vol. 24 (1), pp. 532. Date of Electronic Publication: 2024 Aug 20.
DOI: 10.1186/s12887-024-04973-y
Abstrakt: Background: Alagille syndrome (ALGS) is a multisystem genetic disorder frequently characterized by hepatic manifestations. This study analyzed the clinical, pathological, and molecular genetic features of ALGS to improve the efficiency of clinical diagnosis.
Methods: We retrospectively analyzed the clinical manifestations, pathological examination findings, and genetic testing results of 17 children diagnosed with ALGS based on the revised criteria and hospitalized at our center from January 2012 to January 2022.
Results: The clinical manifestations are as follows: Cholestasis (16/17, 94%), characteristic facies (15/17, 88%), heart disease (12/16, 75%), butterfly vertebrae (12/17, 71%) and posterior embryotoxon (7/12, 58%). Among the 15 patients who underwent liver pathology examination, 13 (87%) were found to have varying degrees of bile duct paucity. Genetic testing was performed on 15 children, and pathogenic variants of the jagged canonical Notch ligand 1 (JAG1) gene were identified in 13 individuals, including 4 novel variants. No pathogenic variant in the notch homolog 2 (NOTCH2) gene were identified, and 2 children exhibited none of the aforementioned gene pathogenic variants. The median follow-up duration was 7 years. Of the remaining 15 patients (excluding 2 lost to follow-up), 11 remained stable, 4 deteriorated, and no patient died during the follow-up period.
Conclusions: Among children diagnosed with ALGS, cholestasis stands as the most common feature. To minimize the risk of misdiagnosis, genetic testing should be performed on children exhibiting cholestasis, followed by the application of the revised diagnostic criteria for ALGS. While pharmacological therapy has shown effectiveness for ALGS patients, liver transplantation may be considered in instances of severe pruritus.
(© 2024. The Author(s).)
Databáze: MEDLINE
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