复发性儿科急性肝衰竭的表型和长期结果:系统性审查和个人参与者数据分析
Harry Sutton1, Or Steg Saban1, Jessie Cunningham2
1Division of Gastroenterology Hepatology and Nutrition, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
概括
儿童的重复性急性肝衰竭 (RALF),通常与遗传突变有关,通常在婴儿期出现,并可能自发消失. 对于不明原因的病例,建议对NBAS,SCYL1,RINT1和LARS1进行基因检测.
科学领域:
- 儿科肝病学 儿科肝病学
- 临床遗传学 临床遗传学
- 基因组医学是基因组医学.
背景情况:
- 儿童的重复性急性肝衰竭 (RALF) 涉及多次肝衰竭,在事件之间完全恢复.
- 在NBAS,RINT1,LARS1和SCYL1中的基因突变与RALF有关.
- 了解移植和死亡率对于管理儿科RALF至关重要.
研究的目的:
- 系统地审查和分析特定基因突变的儿童RALF的个体患者数据.
- 在这个患者群体中确定移植和死亡率.
- 为管理儿科RALF的临床决策提供信息.
主要方法:
- 系统审查和一个阶段的个人参与者分析.
- 在EMBASE,MEDLINE和Web of Science中搜索到2025年5月14日之前的英语研究.
- 包括对患有NBAS,RINT1,LARS1或SCYL1突变的儿科RALF的研究.
主要成果:
- 确定了168名RALF患者,中位数是9个月的第一次呈现.
- 最常见的突变基因是NBAS (66%) 和LARS1 (18.4%).
- 11%的人接受了肝移植,17.3%的人死亡;移植后没有出现复发.
结论:
- 儿童的RALF通常在生命的第一年出现,并且可以有自我限制的过程,经常由发烧性疾病引发.
- 对RALF的肝移植是有争议的,对于随着年龄的增长而消失的疾病可能不太适用.
- 推针对NBAS,SCYL1,RINT1和LARS1的整体外组测序,用于发烧儿童的不明原因急性肝衰竭.
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