Alstrom综合征的发病机制及诊治进展

Progress in pathogenesis,diagnosis,and treatment of Alstrom syndrome

Alstrom综合征(ALMS)是一种罕见的常染色体隐性遗传病,病变涉及多个系统,主要的临床表现有眼球震颤、听力损失、肥胖、胰岛素抵抗、2型糖尿病、扩张性心肌病等.初级纤毛是发育期间的关键细胞器,ALMS被归类为纤毛病,发病主要与ALMS1基因突变影响纤毛功能有关,但具体机制仍不清楚.目前,对ALMS的诊断主要依靠临床表现和基因测序,治疗上缺乏特定有效的治疗方法,主要为对症治疗,但早期的诊断和干预可以延缓疾病进展和提升患者生活质量.该文对近年来ALMS的发病机制、诊断、治疗等方面的研究进展进行综述.

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.