中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (11): 830-836.DOI: 10.19538/j.ek2024110606

• 专题笔谈 • 上一篇    下一篇

Alström综合征诊治及研究进展

  

  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  a 内分泌代谢科，b 医学遗传科，上海  200127
  • 出版日期:2024-11-06 发布日期:2024-12-24
  • 通讯作者: 王秀敏，电子信箱：wangxiumin1019＠126.com
  • 基金资助:
    国家重点研发计划（2022YFC2703102）；国家自然科学基金（82170910）；上海市儿童罕见病临床研究中心项目（20MC1920400）；浦东新区卫健委联合攻关项目（PW2021DG13）

Progress in the diagnosis and treatment of Alström's syndrome and the research

  1. Department of Endocrine Metabolism and Medical Genetics，Shanghai Rare Disease Clinical Research Center，Shanghai Children′s Medical Center Affiliated to Shanghai Jiao Tong University School of Medicine，Shanghai  200127，China
  • Online:2024-11-06 Published:2024-12-24

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

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