Clinical and Genetic Characteristics of Alagille Syndrome in Adults
| Autor: | Jianguo Li, Haicong Wu, Shuru Chen, Jiahui Pang, Heping Wang, Xinhua Li, Weiqiang Gan |
|---|---|
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Journal of Clinical and Translational Hepatology. :000-000 |
| ISSN: | 2310-8819 2225-0719 |
| DOI: | 10.14218/jcth.2021.00313 |
| Popis: | Alagille syndrome (AGS) is an autosomal dominant multisystem disorder caused by mutations in theEight adults diagnosed with AGS at our hospital between June 2016 and June 2019 were included in the study. Clinical data, biochemical results, imaging results, liver histopathology, and genetic testing were analyzed.Three female and five male patients with a median age of 24.5 years at the time of diagnosis were included in the analysis. The clinical manifestations were adult-onset (62.5%, 5/8), cholestasis (50%, 4/8), butterfly vertebrae (62.5%, 5/8), systolic murmurs (12.5%, 1/8), typical facies (12.5%, 1/8), posterior embryotoxon, and renal abnormalities (0/8). Genetic sequencing showed that all patients had mutations, with four occurring in theThe clinical manifestations highlighted by the current diagnostic criteria for most adults with AGS are atypical. Those who do not meet the criteria but are highly suspicious of having AGS need further evaluation, especially genetic testing. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|