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

J Chavany; A Cano; B Roquelaure; P Bourgeois; J Boubnova; P Gaignard; C Hoebeke; R Reynaud; B Rhomer; A Slama; C Badens; B Chabrol; A Fabre

doi:10.1016/j.arcped.2020.01.003

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

Arch Pediatr. 2020 Apr;27(3):155-159. doi: 10.1016/j.arcped.2020.01.003. Epub 2020 Mar 4.

Authors

J Chavany¹, A Cano², B Roquelaure³, P Bourgeois⁴, J Boubnova⁵, P Gaignard⁶, C Hoebeke², R Reynaud³, B Rhomer⁷, A Slama⁶, C Badens⁴, B Chabrol², A Fabre³

Affiliations

¹ Department of pediatric gastroenterology and hepatology, multidisciplinary pediatric, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France; Reference centre for inborn errors of metabolism, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France. Electronic address: julie.chavany@ap-hm.fr.
² Reference centre for inborn errors of metabolism, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.
³ Department of pediatric gastroenterology and hepatology, multidisciplinary pediatric, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.
⁴ Department of medical genetics, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.
⁵ Department of pediatric surgery, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.
⁶ Department of medical genetics, Paris-South university hospitals, Assistance Publique-Hôpitaux de Paris, 94270 Le Kremlin-Bicêtre, France.
⁷ Department of pediatric hepatology, gastroenterology and nutrition, hôpital femme-mère-enfant, hospices civils de Lyon, 69677 Bron, France.

PMID: 32146038
DOI: 10.1016/j.arcped.2020.01.003

Abstract

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.

Keywords: Acute liver failure; Liver transplantation; NBAS; Pediatric; Recurrent acute liver failure; SCYL1.

Publication types

Case Reports
Review

MeSH terms

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*
Male
Mutation*
Neoplasm Proteins / genetics*
Recurrence

Substances

Adaptor Proteins, Vesicular Transport
DNA-Binding Proteins
Genetic Markers
NBAS protein, human
Neoplasm Proteins
SCYL1 protein, human