A型胰岛素抵抗综合征发病机制的研究进展

Recent Progress in the Pathogenesis of Type A Insulin Resistance Syndrome

A型胰岛素抵抗综合征(TAIRS)是一种罕见类型的胰岛素抵抗综合征,常染色体隐性遗传,是由于胰岛素受体基因突变影响胰岛素与胰岛素受体结合,造成胰岛素功能障碍,引发一系列生理和病理异常最终产生的疾病。临床上较少见,以严重的胰岛素抵抗、高胰岛素血症、雄激素增多症及黑棘皮病为特点。目前尚无明确的诊断标准,现报道的病例主要根据其临床症状及胰岛素受体基因检测进行诊断。治疗上无根治性手段,以改善胰岛素抵抗、缓解症状为主。

As a rare type of autosomal recessive inheritanced insulin resistance syndrome,type A insulin resistance syndrome（TAIRS） is caused by mutations in the insulin receptor gene which induces insulin dysfunction and a series of physiological and pathological abnormalities due to defective binding of insulin to its receptors.Rarely diagnosed clinically,TAIRS is mainly characterized by severe insulin resistance,hyperinsulinemia,hyperandrogenism,and acanthosis nigricans.At present there is no explicit TAIRS diagnosis standard,and the diagnosis is mainly based on the clinical symptoms and insulin receptor gene screening.There is no radical treatment means.We just improve insulin resistance and alleviate the symptoms.