Progress in pathogenesis, diagnosis, and treatment of Alstrom syndrome / 国际儿科学杂志

ABSTRACT

Alstrom syndrome (ALMS) is a rare autosomal recessive disorder involving multiple systems.The main clinical manifestations include nystagmus,hearing loss,obesity,insulin resistance,type 2 diabetes,dilated cardiomyopathy,etc.Primary cilia are key organelles.ALMS is classified as a ciliopathy,mainly related to the mutation of ALMS1 gene which affects cilia function,but the specific mechanism remains unclear.At present,the diagnosis of ALMS mainly relies on clinical manifestations and gene sequencing.There are no specific and effective treatment methods except for symptomatic treatment,but early diagnosis and intervention can delay disease progression and improve patients' quality of life.This article reviews recent advances in the pathogenesis,diagnosis,and treatment of ALMS.