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

Adaptor Proteins, Vesicular Transport / genetics Child Child, Preschool DNA-Binding Proteins / genetics Female Genetic Markers Genetic Testing Humans Infant Liver Failure, Acute / diagnosis Male Mutation Neoplasm Proteins / genetics Recurrence
Acute liver failure Liver transplantation NBAS Pediatric Recurrent acute liver failure SCYL1

Journal

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie
ISSN: 1769-664X
Titre abrégé: Arch Pediatr
Pays: France
ID NLM: 9421356

Informations de publication

Date de publication:
Apr 2020
Historique:
received: 04 06 2019
revised: 15 12 2019
accepted: 25 01 2020
pubmed: 9 3 2020
medline: 9 1 2021
entrez: 9 3 2020
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.arcped.2020.01.003 PMID: 32146038
pubmed: 32146038
pii: S0929-693X(20)30018-X
doi: 10.1016/j.arcped.2020.01.003
pii:
doi:

Substances chimiques

Adaptor Proteins, Vesicular Transport 0
DNA-Binding Proteins 0
Genetic Markers 0
NBAS protein, human 0
Neoplasm Proteins 0
SCYL1 protein, human 0

Types de publication

Case Reports Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

155-159

Informations de copyright

Copyright © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.

Auteurs

J Chavany (J)

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.

A Cano (A)

Reference centre for inborn errors of metabolism, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.

B Roquelaure (B)

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.

P Bourgeois (P)

Department of medical genetics, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.

J Boubnova (J)

Department of pediatric surgery, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.

P Gaignard (P)

Department of medical genetics, Paris-South university hospitals, Assistance Publique-Hôpitaux de Paris, 94270 Le Kremlin-Bicêtre, France.

C Hoebeke (C)

Reference centre for inborn errors of metabolism, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.

R Reynaud (R)

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.

B Rhomer (B)

Department of pediatric hepatology, gastroenterology and nutrition, hôpital femme-mère-enfant, hospices civils de Lyon, 69677 Bron, France.

A Slama (A)

Department of medical genetics, Paris-South university hospitals, Assistance Publique-Hôpitaux de Paris, 94270 Le Kremlin-Bicêtre, France.

C Badens (C)

Department of medical genetics, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.

B Chabrol (B)

Reference centre for inborn errors of metabolism, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.

A Fabre (A)

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.

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Classifications MeSH

questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines du transport vésiculaire › Protéines adaptatrices du transport vésiculaire › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Marqueurs génétiques › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Maladies de l'appareil digestif › Maladies du foie › Insuffisance hépatique › Défaillance hépatique › Défaillance hépatique aigüe › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines tumorales › Mutations in NBAS and SCYL1, genetic causes of...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Récidive › Mutations in NBAS and SCYL1, genetic causes of...