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.

Key words: Alstr?m syndrome, ALMS1 gene, mechanism, clinical manifestations

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。

关键词: Alstr?m综合征, ALMS1基因, 机制, 临床表现