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与胰岛素受体相关的食后低血糖症 基因变异G1146R
Lauraliz Delacruz1, Lindsay J Adamczak1, Olga Astapova1
1Department of Medicine, Division of Endocrinology, University of Rochester Medical Center, Rochester, NY 14642, USA.
JCEM case reports
|October 30, 2025
概括
一种罕见的胰岛素受体 (INSR) 基因变异,G1146R,在一位老年男性中引起了危及生命的低血糖症. 这一案例突显了INSR基因变异的变异性和G1146R.的潜在重新分类.
科学领域:
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 非糖尿病低血糖症可能是严重的和危及生命的.
- 胰岛素受体 (INSR) 基因在葡萄糖调节中起着至关重要的作用.
- 在INSR的遗传变异可以导致不同的临床表现.
研究的目的:
- 报告一种与特定的INSR基因变异 (G1146R) 相关的食后低血糖病例.
- 探索与INSR基因变异相关的临床变异性.
- 讨论G1146RINSR变种可能的重新分类.
主要方法:
- 一个82岁的白人男性的病例介绍,患有复发性低血糖症.
- 基因分析识别了一种异合体INSR基因变异 (G1146R).
- 审查关于INSR变体及其相关表型的现有文献.
主要成果:
- 患者呈现出恶化的食后低血糖症,需要持续监测血糖.
- 预计已识别的INSR G1146R变种会损害受体自酸化.
- 这种变体以前在一个儿童严重胰岛素耐药症没有低血糖症的病例中报告过.
结论:
- G1146R INSR 变种表现出显著的临床变异性,在一种情况下引起低血糖症,在另一种情况下引起胰岛素抵抗.
- 这一案例表明,G1146R INSR可能是一种致病变体,而不仅仅是具有不确定的意义的变体.
- 了解INSR变异的变化对于准确诊断和治疗低血糖症和胰岛素耐药性至关重要.
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