Alström综合征内分泌代谢特征  

Endocrine metabolic characteristics and research progress in Alström syndrome

作　　者：李凯璐 付留俊[1] 彭慧芳 郭宇 姜宏卫[1] LI Kai-lu;FU Liu-jun;PENG Hui-fang;GUO Yu;JIANG Hong-wei(Endocrinology and Metabolism Center,the First Affiliated Hospital and College of Clinical Medicine of Henan University of Science and Technology,Luoyang 471003,China)

机构地区：[1]河南科技大学临床医学院、河南科技大学第一附属医院内分泌代谢中心、河南省罕见病重点实验室、洛阳市临床多组学与转化医学重点实验室,河南洛阳471003

出　　处：《中国实用内科杂志》2024年第11期881-885,920,共6页Chinese Journal of Practical Internal Medicine

基　　金：河南省医学科技攻关计划联合共建项目(LHGJ20230465);河南省科技研发联合基金(225200810054)。

摘　　要：Alström综合征(ALMS)是一种由ALMS1基因突变引起的纤毛病,以常染色体隐性遗传方式遗传。ALMS患者临床病变涉及多个系统,其中内分泌代谢方面包括儿童期肥胖、胰岛素抵抗、糖尿病、高甘油三酯血症、非酒精性脂肪肝、性腺功能异常、空泡蝶鞍、甲状腺功能减退等。ALMS1蛋白定位于初级纤毛细胞的中心体和基体,对纤毛形成和功能维持有重要作用,纤毛功能异常导致能量摄入过多是ALMS患者肥胖的主要因素,极端胰岛素抵抗和β细胞功能衰竭是导致ALMS糖代谢紊乱的两个决定性因素,非酒精性脂肪肝、甲状腺功能异常可能与器官纤维化有关。该病目前以对症支持治疗为主,近年来内分泌代谢类的新药可能对患者症状缓解有积极的作用。文章对ALMS内分泌代谢特征进行梳理,对发病机制及相关治疗进展详细综述,以提高临床对此病认识,进一步推进规范诊疗。Alström syndrome(ALMS)is a ciliated disease caused by the ALMS1 gene mutation,which is inherited in an autosomal recessive manner.Clinical lesion in ALMS patients involve multiple systems,and concering endocrine metabolism,it including childhood obesity,insulin resistance,diabetes,hypertriglyceridemia,non-alcoholic fatty liver disease,gonadal dysfunction,vacuolar sella,hypothyroidism and so on.ALMS1 protein is located in the centrosomes and matrix of primary ciliary cells,and plays an important role in ciliary formation and function maintenance.Excessive energy intake caused by abnormal ciliary function is the main factor of obesity in ALMS patients,and extreme insulin resistance andβcell function failure are two decisive factors leading to the disorder of glucose metabolism in ALMS.Non-alcoholic fatty liver disease and thyroid dysfunction may be related to organ fibrosis.At present,the disease is mainly managed by symptomatic treatment,and in recent years,new drugs of endocrine metabolism may have a positive effect on symptom relief.In this paper,and the endocrine and metabolic characteristics of ALMS are sorted out and the pathogenesis and related treatment progress are reviewed in detail,so as to improve clinical understanding of this disease and further promote standardized diagnosis and treatment.

关 键 词：Alström综合征 ALMS1基因 纤毛病 胰岛素抵抗 糖尿病 

分 类 号：R58[医药卫生—内分泌]