期刊
DIAGNOSTICS
卷 12, 期 5, 页码 -出版社
MDPI
DOI: 10.3390/diagnostics12051169
关键词
genetic cholestasis; children; NGS; neonatal sclerosing cholangitis; PFIC; Alagille syndrome; transient neonatal cholestasis
资金
- MLD (Monaco Liver Disorder, Monaco)
- AMFE (Association Maladie Foie Enfants, Malakof, France),
- Fondation Rumsey-Cartier (Geneve, Switzerland)
- Association Pour Louis 1000 Foie Merci (Fournet-Luisans, France)
This study evaluated the use of NGS in pediatric cholestasis and found that it provided a certain diagnosis in 28.1% of the included patients. However, further investigation is needed to determine the impact of variants, especially in patients with variants of uncertain significance.
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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