Progress in the diagnosis and treatment of Alström's syndrome and the research
WANG Li-bo
ZHANG Qian-wen
WANG Xiu-min
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.
Keywords：Alström syndromeALMS1 genemechanismclinical manifestations
Publication Date：2024-11-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：7( 830-836 )