脊髓性肌萎缩症 1 型基因替代治疗后亚急性肝衰竭。
Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type 1.
机构信息
Children's Hospital Colorado, University of Colorado School of Medicine, Denver; Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO.
Children's Hospital Colorado, University of Colorado School of Medicine, Denver; Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO.
出版信息
J Pediatr. 2020 Oct;225:252-258.e1. doi: 10.1016/j.jpeds.2020.05.044. Epub 2020 May 28.
Abstract
Spinal muscular atrophy is a neurodegenerative disease resulting from irreversible loss of anterior horn cells owing to biallelic deletions/mutations in the survival motor neuron (SMN) 1 gene. Gene replacement therapy using an adeno-associated virus vector containing the SMN gene was approved by the US Food and Drug Administration in May 2019. We report 2 cases of transient, drug-induced liver failure after this therapy.
摘要
脊髓性肌萎缩症是一种神经退行性疾病，由生存运动神经元（SMN）1 基因的双等位基因突变/缺失导致前角细胞不可逆转的丧失。含有 SMN 基因的腺相关病毒载体的基因替代疗法于 2019 年 5 月获得美国食品和药物管理局的批准。我们报告了 2 例该疗法后短暂、药物性肝衰竭的病例。
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