中国实用内科杂志2024，Vol.44Issue(11)：881-885,920,6.DOI:10.19538/j.nk2024110101
Alström综合征内分泌代谢特征
Endocrine metabolic characteristics and research progress in Alström syndrome
摘要
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分类
医药卫生引用本文复制引用
李凯璐,付留俊,彭慧芳,郭宇,姜宏卫..Alström综合征内分泌代谢特征[J].中国实用内科杂志,2024,44(11):881-885,920,6.基金项目
河南省医学科技攻关计划联合共建项目(LHGJ20230465) （LHGJ20230465）
河南省科技研发联合基金(225200810054) （225200810054）
