Alström综合征诊治及研究进展  

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

作　　者：汪莉波 张倩文 王秀敏[1,2] WANG Li-bo;ZHANG Qianwen;WANG Xiu-min(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)

机构地区：[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 [2]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

出　　处：《中国实用儿科杂志》2024年第11期830-836,共7页Chinese Journal of Practical Pediatrics

基　　金：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)。

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。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 

分 类 号：R72[医药卫生—儿科]