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

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.

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Publication Details

Journal
BMC Pediatrics
Published
2024-08-20
DOI
https://doi.org/10.1186/s12887-024-04973-y
Citations
4
Primary Topic
Pediatric Hepatobiliary Diseases and Treatments
Type
article
Field-Weighted Citation Impact
2.29
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article

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

Lili Cao, Fuchuan Wang, Jianguo Yan, Min Zhang et al.
4 citations
BMC Pediatrics
Pediatric Hepatobiliary Diseases and Treatments
2.29
article

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

Lili Cao, Fuchuan Wang, Jianguo Yan, Min Zhang, Yi Dong, Yinjie Gao, Zhiqiang Xu, Danni Feng, Yuanzhi Huang
article en
4 citations

Abstract

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.

BMC PediatricsVol. 24(1)
Peking University (CN), Chinese PLA General Hospital (CN)
Openalex Percentile: Top 12%
Pediatric Hepatobiliary Diseases and Treatments
2.29
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