中国实用儿科杂志2024，Vol.39Issue(11)：830-836,7.DOI:10.19538/j.ek2024110606
Alström综合征诊治及研究进展
Progress in the diagnosis and treatment of Alström's syndrome and the research
摘要
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分类
医药卫生引用本文复制引用
汪莉波,张倩文,王秀敏..Alström综合征诊治及研究进展[J].中国实用儿科杂志,2024,39(11):830-836,7.基金项目
国家重点研发计划(2022YFC2703102) （2022YFC2703102）
国家自然科学基金(82170910) （82170910）
上海市儿童罕见病临床研究中心项目(20MC1920400) （20MC1920400）
浦东新区卫健委联合攻关项目(PW2021DG13) （PW2021DG13）
