胆汁淤积
遗传诊断
医学
分子诊断学
胆汁淤积性黄疸
新生儿胆汁淤积症
黄疸
重症监护医学
生物信息学
内科学
胆道闭锁
基因
遗传学
生物
移植
肝移植
作者
Marion Almes,Anne Spraul,Mathias Ruiz,M Girard,Bertrand Roquelaure,Nolwenn Laborde,F. Gottrand,A. Turquet,Thierry Lamireau,A. Dabadie,Marjorie Bonneton,Alice Thébaut,Babara Rohmer,Florence Lacaille,Pierre Broué,Alexandre Fabre,Karine Mention-Mulliez,Jérôme Bouligand,Emmanuel Jacquemin,Emmanuel Gonzalès
出处
期刊:Diagnostics
[MDPI AG]
日期:2022-05-07
卷期号:12 (5): 1169-1169
被引量:6
标识
DOI:10.3390/diagnostics12051169
摘要
Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to evaluate the use of NGS in children with cholestasis. Methods: Children presenting cholestasis were included between 2015 and 2020. Molecular sequencing was performed by targeted capture of a panel of 34 genes involved in cholestasis and jaundice. Patients were classified into three categories: certain diagnosis; suggested diagnosis (when genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number); uncertain diagnosis (when clinical and para-clinical findings were not consistent enough with molecular findings). Results: A certain diagnosis was established in 169 patients among the 602 included (28.1%). Molecular studies led to a suggested diagnosis in 40 patients (6.6%) and to an uncertain diagnosis in 21 patients (3.5%). In 372 children (61.7%), no molecular defect was identified. Conclusions: NGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations.
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