胰岛素受体基因p.A1055P突变所致的A型胰岛素抵抗综合征家系报道
报道1个新的胰岛素受体基因杂合突变所致的A型胰岛素抵抗综合征（TAIRS）家系。先证者以“月经不规律5年”为主诉入院，有黑棘皮病、高雄激素血症及胰岛素抵抗表现，家系中母亲及哥哥均有高胰岛素血症，3例全外显子基因测序均检测到胰岛素受体（ INSR）基因c.3163G>C（p.A1055P）杂合突变，均诊断为TAIRS。先证者予以二甲双胍治疗，胰岛素水平明显下降。该文结合文献探讨其临床特征、诊治要点，旨在提高临床对 INSR基因突变致TAIRS患者的认识。...
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| Published in | 中华糖尿病杂志 Vol. 14; no. 5; pp. 504 - 507 |
|---|---|
| Main Authors | , |
| Format | Journal Article |
| Language | Chinese |
| Published |
内蒙古医科大学附属医院内分泌科，呼和浩特 010059
01.05.2022
|
| Subjects | |
| Online Access | Get full text |
| ISSN | 1674-5809 |
| DOI | 10.3760/cma.j.cn115791-20210915-00498 |
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| Abstract | 报道1个新的胰岛素受体基因杂合突变所致的A型胰岛素抵抗综合征（TAIRS）家系。先证者以“月经不规律5年”为主诉入院，有黑棘皮病、高雄激素血症及胰岛素抵抗表现，家系中母亲及哥哥均有高胰岛素血症，3例全外显子基因测序均检测到胰岛素受体（
INSR）基因c.3163G>C（p.A1055P）杂合突变，均诊断为TAIRS。先证者予以二甲双胍治疗，胰岛素水平明显下降。该文结合文献探讨其临床特征、诊治要点，旨在提高临床对
INSR基因突变致TAIRS患者的认识。 |
|---|---|
| AbstractList | 报道1个新的胰岛素受体基因杂合突变所致的A型胰岛素抵抗综合征（TAIRS）家系。先证者以“月经不规律5年”为主诉入院，有黑棘皮病、高雄激素血症及胰岛素抵抗表现，家系中母亲及哥哥均有高胰岛素血症，3例全外显子基因测序均检测到胰岛素受体（
INSR）基因c.3163G>C（p.A1055P）杂合突变，均诊断为TAIRS。先证者予以二甲双胍治疗，胰岛素水平明显下降。该文结合文献探讨其临床特征、诊治要点，旨在提高临床对
INSR基因突变致TAIRS患者的认识。 |
| Author | 闫朝丽 张智慧 |
| AuthorAffiliation | 内蒙古医科大学附属医院内分泌科，呼和浩特 010059 |
| AuthorAffiliation_xml | – name: 内蒙古医科大学附属医院内分泌科，呼和浩特 010059 |
| Author_FL | Yan Zhaoli Zhang Zhihui |
| Author_FL_xml | – sequence: 1 fullname: Zhang Zhihui – sequence: 2 fullname: Yan Zhaoli |
| Author_xml | – sequence: 1 fullname: 张智慧 – sequence: 2 fullname: 闫朝丽 |
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| Keywords | A型胰岛素抵抗综合征 胰岛素 受体 基因突变 |
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