单基因突变所致的胰岛素抵抗综合征

Insulin resistance syndromes of monogenic mutations

临床上存在多种由单基因突变所导致的胰岛素抵抗综合征，如胰岛素受体基因突变造成的严重胰岛素抵抗综合征，核纤层蛋白（LMNA）基因突变导致的脂肪营养不良综合征等，以下将对这些疾病的临床特点、突变基因及发病机制作一综述。

Several insulin resistance syndromes, such as severe insulin resistance syndrome caused by mutations of insulin receptor gene and lipodystrophy caused by mutations of lamin gene, have been characterized clinically. The gene mutations, pathogenesis and clinical features of these monogenic diseases were reviewed in this article.