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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9831120/ https://www.ncbi.nlm.nih.gov/pubmed/36636710 http://dx.doi.org/10.2147/IJGM.S382430 |
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author | Li, Dalei Mao, Kangwei Sun, Jun Liu, Jiangyang Zhang, Chenxi |
author_facet | Li, Dalei Mao, Kangwei Sun, Jun Liu, Jiangyang Zhang, Chenxi |
author_sort | Li, Dalei |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-9831120 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Dove |
record_format | MEDLINE/PubMed |
spelling | pubmed-98311202023-01-11 Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center Li, Dalei Mao, Kangwei Sun, Jun Liu, Jiangyang Zhang, Chenxi Int J Gen Med Original Research 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. Dove 2023-01-06 /pmc/articles/PMC9831120/ /pubmed/36636710 http://dx.doi.org/10.2147/IJGM.S382430 Text en © 2023 Li et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). |
spellingShingle | Original Research Li, Dalei Mao, Kangwei Sun, Jun Liu, Jiangyang Zhang, Chenxi Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center |
title | Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center |
title_full | Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center |
title_fullStr | Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center |
title_full_unstemmed | Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center |
title_short | Clinical and Laboratory Characteristics in Children with Alagille Syndrome: Experience of a Single Center |
title_sort | clinical and laboratory characteristics in children with alagille syndrome: experience of a single center |
topic | Original Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9831120/ https://www.ncbi.nlm.nih.gov/pubmed/36636710 http://dx.doi.org/10.2147/IJGM.S382430 |
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