Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review

Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report thre...

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Veröffentlicht in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie Jg. 27; H. 3; S. 155 - 159
Hauptverfasser: Chavany, J., Cano, A., Roquelaure, B., Bourgeois, P., Boubnova, J., Gaignard, P., Hoebeke, C., Reynaud, R., Rhomer, B., Slama, A., Badens, C., Chabrol, B., Fabre, A.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: France Elsevier Masson SAS 01.04.2020
Schlagworte:
Acute liver failure
Adaptor Proteins, Vesicular Transport - genetics
Child
Child, Preschool
DNA-Binding Proteins - genetics
Female
Genetic Markers
Genetic Testing
Humans
Infant
Liver Failure, Acute - diagnosis
Liver Failure, Acute - genetics
Liver transplantation
Male
Mutation
NBAS
Neoplasm Proteins - genetics
Pediatric
Recurrence
Recurrent acute liver failure
SCYL1
Recurrent acute liver failure
Acute liver failure
NBAS
Pediatric
SCYL1
Liver transplantation
ISSN:0929-693X, 1769-664X, 1769-664X
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Zusammenfassung:Acute liver failure (ALF) in childhood is a life-threatening emergency. ALF is often caused by drug toxicity, autoimmune hepatitis, inherited metabolic diseases, and infections. However, despite thorough investigations, a cause cannot be determined in approximately 50% of cases. Here, we report three cases with recurrent ALF caused by NBAS and SCYL1 pathogenic variants. These patients did not present with any other phenotypic sign usually associated with NBAS and SCYL1 pathogenic variants. Two of them underwent liver transplantation and are healthy without recurrence of ALF. We propose NBAS and SCYL1 genetic analysis in children with unexplained fever-triggered recurrent ALF even without a typical phenotype.
Bibliographie:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Review-5
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0929-693X
1769-664X
1769-664X
DOI:10.1016/j.arcped.2020.01.003