NBAS 和 SCYL1 基因突变导致儿童复发性肝功能衰竭：三例病例报告及文献复习。
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature review.
机构信息
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.
Reference centre for inborn errors of metabolism, La-Timone children hospital, Aix-Marseille university, Assistance Publique-Hôpitaux de Marseille, 13385 Marseille cedex 05, France.
出版信息
Arch Pediatr. 2020 Apr;27(3):155-159. doi: 10.1016/j.arcped.2020.01.003. Epub 2020 Mar 4.
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.
儿童急性肝衰竭（ALF）是一种危及生命的紧急情况。ALF 通常由药物毒性、自身免疫性肝炎、遗传性代谢疾病和感染引起。然而，尽管进行了彻底的调查，仍有约 50%的病例无法确定病因。在这里，我们报告了三例由 NBAS 和 SCYL1 致病性变异引起的复发性 ALF 病例。这些患者没有出现任何其他通常与 NBAS 和 SCYL1 致病性变异相关的表型体征。其中两名患者接受了肝移植，目前身体状况良好，没有复发性 ALF。我们建议对不明原因发热诱发的复发性 ALF 且无典型表型的儿童进行 NBAS 和 SCYL1 基因分析。
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