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胰岛素抵抗综合征的新分类及诊断标准

New classification and diagnostic criteria for insulin resistance syndrome.

作者信息

Ogawa Wataru, Araki Eiichi, Ishigaki Yasushi, Hirota Yushi, Maegawa Hiroshi, Yamauchi Toshimasa, Yorifuji Tohru, Katagiri Hideki

机构信息

Division of Diabetes and Endocrinology, Department of Internal Medicine, Kobe University Graduate School of Medicine, 7-5-1 Kusunoki-cho, Chuo-ku, Kobe, 650-0017 Japan.

Department of Metabolic Medicine, Faculty of Life Sciences, Kumamoto University, 1-1-1 Honso, Chuo-ku, Kumamoto, 860-8556 Japan.

出版信息

Diabetol Int. 2022 Jan 31;13(2):337-343. doi: 10.1007/s13340-022-00570-5. eCollection 2022 Apr.

DOI:10.1007/s13340-022-00570-5
PMID:35463863
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8980125/
Abstract

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 , which encodes a regulatory subunit of phosphatidylinositol 3-kinase; conditions caused by abnormalities of , , or ; 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.

摘要

这份由日本糖尿病学会成立的工作组报告提出了胰岛素抵抗综合征的新分类和诊断标准。胰岛素抵抗综合征被定义为一种由于胰岛素受体或其下游信号分子功能受损导致胰岛素作用严重减弱的病症。该综合征分为两种类型:由基因异常引起的遗传性胰岛素抵抗综合征,以及由胰岛素受体自身抗体引起的B型胰岛素抵抗综合征。遗传性胰岛素抵抗综合征包括A型胰岛素抵抗以及多诺霍综合征和拉布森 - 门登霍尔综合征,所有这些均由胰岛素受体基因异常引起;由编码磷脂酰肌醇3 - 激酶调节亚基的基因异常引起的SHORT综合征等病症;由其他基因异常引起的病症;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。仅由刺激胰岛素受体的自身抗体诱发低血糖的病例不包括在B型胰岛素抵抗综合征中。

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本文引用的文献

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Diabetol Int. 2020 Jul 15;12(1):62-67. doi: 10.1007/s13340-020-00455-5. eCollection 2021 Jan.
2
Long-term efficacy of the sodium-glucose cotransporter 2 inhibitor, ipragliflozin, in a case of type A insulin resistance syndrome.钠-葡萄糖共转运蛋白 2 抑制剂伊格列净治疗 A 型胰岛素抵抗综合征 1 例的长期疗效。
J Diabetes Investig. 2020 Sep;11(5):1363-1365. doi: 10.1111/jdi.13241. Epub 2020 Mar 20.
3
Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.胰岛素抵抗综合征的临床特征:日本全国性调查。
J Diabetes Investig. 2020 May;11(3):603-616. doi: 10.1111/jdi.13171. Epub 2019 Dec 5.
4
Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor.使用钠-葡萄糖共转运蛋白 2 抑制剂治疗 1 例由于 PIK3R1 突变引起的严重胰岛素抵抗病例。
J Diabetes Investig. 2018 Sep;9(5):1224-1227. doi: 10.1111/jdi.12825. Epub 2018 Mar 25.
5
A follow-up during puberty in a Japanese girl with type A insulin resistance due to a novel mutation in .一名因[具体基因]新突变导致A型胰岛素抵抗的日本女孩在青春期的随访情况。 (注:原文中“due to a novel mutation in.”后面似乎缺少具体基因信息)
Clin Pediatr Endocrinol. 2018;27(1):53-57. doi: 10.1297/cpe.27.53. Epub 2018 Jan 30.
6
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Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management.伴有PIK3R1突变的SHORT综合征的临床重新评估:关于分子检测和管理建议的探讨
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