Paediatric Liver, GI and Nutrition Centre, King's College Hospital, London, UK.
Institute of Liver Studies, King's College London, London, UK.
J Inherit Metab Dis. 2024 Jul;47(4):582-597. doi: 10.1002/jimd.12733. Epub 2024 Mar 18.
Acute liver failure (ALF) is a rare, rapidly evolving, clinical syndrome with devastating consequences where definitive treatment is by emergency liver transplantation. Establishing a diagnosis can be challenging and, historically, the cause of ALF was unidentified in up to half of children. However, recent technological and clinical advances in genomic medicine have led to an increasing proportion being diagnosed with monogenic aetiologies of ALF. The conditions encountered include a diverse group of inherited metabolic disorders each with prognostic and treatment implications. Often these disorders are clinically indistinguishable and may even mimic disorders of immune regulation or red cell disorders. Rapid genomic sequencing for children with ALF is, therefore, a key component in the diagnostic work up today. This review focuses on the monogenic aetiologies of ALF.
急性肝衰竭（ALF）是一种罕见的、迅速发展的临床综合征，具有破坏性的后果，其明确的治疗方法是紧急肝移植。诊断可能具有挑战性，而且在历史上，高达一半的儿童的 ALF 病因无法确定。然而，基因组医学的最新技术和临床进展导致越来越多的儿童被诊断为 ALF 的单基因病因。所遇到的病症包括一组不同的遗传性代谢紊乱，每一种都有预后和治疗意义。这些疾病通常在临床上无法区分，甚至可能模仿免疫调节紊乱或红细胞紊乱。因此，对 ALF 患儿进行快速基因组测序是当今诊断工作的关键组成部分。这篇综述重点介绍 ALF 的单基因病因。
