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Archives de pédiatrie
Sous presse. Epreuves corrigées par l'auteur. Disponible en ligne depuis le jeudi 5 mars 2020
Doi : 10.1016/j.arcped.2020.01.003
Received : 4 June 2019 ;  accepted : 25 January 2020
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review
 

J. Chavany a, b, , A. Cano b, B. Roquelaure a, P. Bourgeois c, J. Boubnova d, P. Gaignard e, C. Hoebeke b, R. Reynaud a, B. Rhomer f, A. Slama e, C. Badens c, B. Chabrol b, A. Fabre a
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 
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 
c Department of medical genetics, La-Timone children hospital, Aix-Marseille university, Assistance Publique–Hôpitaux de Marseille, 13385 Marseille cedex 05, France 
d Department of pediatric surgery, La-Timone children hospital, Aix-Marseille university, Assistance Publique–Hôpitaux de Marseille, 13385 Marseille cedex 05, France 
e Department of medical genetics, Paris-South university hospitals, Assistance Publique–Hôpitaux de Paris, 94270 Le Kremlin-Bicêtre, France 
f Department of pediatric hepatology, gastroenterology and nutrition, hôpital femme-mère-enfant, hospices civils de Lyon, 69677 Bron, France 

Corresponding author at: La-Timone children hospital, Aix-Marseille university, assistance publique, hôpitaux de Marseille, 13385 Marseille cedex 05, France.La-Timone children hospital, Aix-Marseille university, assistance publique, hôpitaux de MarseilleMarseille cedex 0513385France
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.

The full text of this article is available in PDF format.

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




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