Endocrine metabolic characteristics and research progress in Alström syndrome
LI Kai-lu
FU Liu-jun
PENG Hui-fang
GUO Yu
JIANG Hong-wei
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.
Keywords：Alström syndromeALMS1 geneciliopathyinsulin resistancediabetes
Publication Date：2024-11-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：6( 881-885,920 )