Alstr?m综合征诊治及研究进展
Progress in the diagnosis and treatment of Alstr?m's syndrome and the research
汪莉波 1张倩文 1王秀敏1
作者信息
- 1. 上海交通大学医学院附属上海儿童医学中心 上海 市罕见病临床研究中心内分泌代谢科,上海 200127;上海交通大学医学院附属上海儿童医学中心 上海市罕见病临床研究中心医学遗传科,上海 200127
- 折叠
摘要
Alström 综合征(Alström syndrome,ALMS)是一种由ALMS1基因变异引起的罕见常染色体隐性遗传病,具有复杂的多系统临床表现.最显著的特征包括儿童肥胖、2型糖尿病、视网膜病变,症状多在婴儿期开始出现,并随年龄逐渐进展.由于ALMS临床表现复杂、预后差且具有年龄依赖性,误诊与漏诊现象普遍存在.该文将探讨ALMS的诊断与治疗及研究进展,强调早期识别和干预的重要性,以期改善患儿的多器官功能障碍,延长寿命并提升生活质量.
Abstract
Alström syndrome(ALMS)is a rare autosomal recessive disorder caused by a variant in the ALMS1 gene with a complex multisystemic clinical manifestations.The most notable features include childhood obesity,type 2 diabetes mellitus,and retinopathy,with symptoms mostly beginning in infancy and progressively expanding with age.Misdiagnosis and missed diagnosis of ALMS are common due to its complex clinical manifestations,poor prognosis,and age-dependence.In this article,we will discuss the diagnosis and treatment of ALMS and the progress of research,emphasizing the importance of early recognition and intervention,with a view to improve patients'multi-organ dysfunction,prolong life expectancy and improve quality of life.
关键词
Alström综合征/ALMS1基因/机制/临床表现Key words
Alström syndrome/ALMS1 gene/mechanism/clinical manifestations引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据