Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan.
Department of Metabolic Medicine, Faculty of Life Sciences, Kumamoto University, Kumamoto 860-8556, Japan.
Endocr J. 2022 Feb 28;69(2):107-113. doi: 10.1507/endocrj.EJ21-0725. Epub 2022 Feb 1.
This report of a working group established by the Japan Diabetes Society proposes a new classification and diagnostic criteria for insulin resistance syndrome. Insulin resistance syndrome is defined as a condition characterized by severe attenuation of insulin action due to functional impairment of the insulin receptor or its downstream signaling molecules. This syndrome is classified into two types: genetic insulin resistance syndrome, caused by gene abnormalities, and type B insulin resistance syndrome, caused by autoantibodies to the insulin receptor. Genetic insulin resistance syndrome includes type A insulin resistance as well as Donohue and Rabson-Mendenhall syndromes, all of which are caused by abnormalities of the insulin receptor gene; conditions such as SHORT syndrome caused by abnormalities of PIK3R1, which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of AKT2, TBC1D4, or PRKCE; and conditions in which a causative gene has not yet been identified. Type B insulin resistance syndrome is characterized by severe impairment of insulin action due to the presence of insulin receptor autoantibodies. Cases in which hypoglycemia alone is induced by autoantibodies that stimulate insulin receptor were not included in Type B insulin resistance syndrome.
本报告是由日本糖尿病学会设立的工作组提出的，旨在为胰岛素抵抗综合征建立新的分类和诊断标准。胰岛素抵抗综合征是指由于胰岛素受体或其下游信号分子的功能障碍导致胰岛素作用严重减弱的一种病症。该综合征分为两种类型：遗传性胰岛素抵抗综合征，由基因异常引起；B 型胰岛素抵抗综合征，由胰岛素受体自身抗体引起。遗传性胰岛素抵抗综合征包括 A 型胰岛素抵抗以及 Donohue 和 Rabson-Mendenhall 综合征，它们均由胰岛素受体基因异常引起；由编码磷脂酰肌醇 3-激酶调节亚基的 PIK3R1 基因突变引起的 SHORT 综合征等；由 AKT2、TBC1D4 或 PRKCE 基因突变引起的病症；以及尚未确定致病基因的病症。B 型胰岛素抵抗综合征的特征是由于存在胰岛素受体自身抗体导致胰岛素作用严重受损。自身抗体仅引起低血糖的情况不包括在 B 型胰岛素抵抗综合征中。
