Hereditary severe insulin resistance syndrome:Pathogenesis,pathophysiology,and clinical management
作者机构：National Clinical Research Center for Metabolic DiseasesHunan Provincial Key Laboratory for Metabolic Bone Diseasesand Department of Endocrinology and MetabolismThe Second XiangYa Hospital of Central South UniversityChangshaHunan 410011China
出 版 物：《Genes & Diseases》 (基因与疾病(英文))
年 卷 期：2023年第10卷第5期
页 面：1846-1856页
核心收录：
学科分类：0710[理学-生物学] 1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学]
基 金：supported by the National Natural Science Foundation of China(No.8217033609,81770880,81800788,and 81970762) the Science&Technology Department of Hunan Province(China)(No.2020SK2080,and 2015JC3012) Changsha Science&Technology(China)(No.k1906019,and kq1901118)
主 题：Diabetes Genetics Insulin resistance Lipodystrophy Pathophysiology Therapy
摘 要：Severe insulin resistance has been linked to some of the most globally prevalent disorders,such as diabetes mellitus,nonalcoholic fatty liver disease,polycystic ovarian syndrome,and *** severe insulin resistance syndrome(H-SIRS)is a rare disorder classified into four principal categories:primary insulin receptor defects,lipodystrophies,complex syndromes,and obesity-related *** such as INSR,AKT2,TBC1D4,AGPAT2,BSCL2,CAV1,PTRF,LMNA,PPARG,PLIN1,CIDEC,LIPE,PCYT1A,MC4R,LEP,POMC,SH2B1,RECQL2,RECQL3,ALMS1,PCNT,ZMPSTE24,PIK3R1,and POLD1 have been linked to *** clinical features include insulin resistance,hyperglycemia,hyperandrogenism,severe dyslipidemia,fatty liver,abnormal topography of adipose tissue,and low serum leptin and adiponectin *** of H-SIRS is based on the presence of typical clinical features associated with the various H-SIRS forms and the identification of mutations in H-SIRS-linked genes by genetic *** therapy,insulin sensitization,exogenous insulin therapy,and leptin replacement therapy have widely been adopted to manage *** rarity of H-SIRS,its highly variable clinical presentation,refusal to be tested for genetic mutations by patients’family members who are not severely sick,unavailability of genetic testing,and testing expenses contribute to the delayed or underdiagnoses of *** diagnosis facilitates early management of the condition,which results in improved glycemic control and delayed onset of diabetes and other complications related to severe insulin *** use of updated genetic sequencing technologies is recommended,and long-term studies are required for genotype–phenotype differentiation and formulation of diagnostic and treatment protocols.
维普期刊数据库