Alstr?m综合征内分泌代谢特征
Endocrine metabolic characteristics and research progress in Alstr?m syndrome
李凯璐 1付留俊 1彭慧芳 1郭宇 1姜宏卫1
作者信息
- 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
- 折叠
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.
Abstract
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 and β cell 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Key words
Alström syndrome/ALMS1 gene/ciliopathy/insulin resistance/diabetes引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据