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在2名患有先天性超胰岛素症的患者中,Alpelisib治疗
Khalid Alburshad1, Rasha Amin1, Hajar Dauleh1
1Endocrinology Department, Sidra Medicine, PO BOX 26999, Doha, Qatar.
JCEM case reports
|June 10, 2025
概括
阿尔佩利西布治疗改善了先天性高胰岛素症 (CHI) 的儿童的葡萄糖水平,这是一种导致严重低血糖的疾病. 这种治疗允许停止其他药物治疗,并使两名患者的食正常化.
科学领域:
- 内分泌学 在内分泌学.
- 儿科代谢 儿科代谢
- 药理学 药理学是指药理学的学科.
背景情况:
- 先天性高胰岛素症 (CHI) 是一种罕见的遗传疾病,其特征是胰岛素分泌失调,经常导致严重的低血糖症.
- 对于CHI的传统疗法在严重病例中往往是不够的,需要新的治疗方法.
研究的目的:
- 评估alpelisib作为治疗剂的疗效和安全性,用于两名患有严重,治疗不耐药的先天性高胰岛素症的儿科患者.
主要方法:
- 两名基因确诊的CHI (同卵性ABCC8和KCNJ11变异) 儿童对标准治疗没有反应,每天开始服用12.5毫克的alpelisib治疗.
- 根据临床反应调整剂量,并监测血糖变化,低血糖频率,食要求和不良事件的结果.
主要成果:
- 阿尔佩利西布治疗显著稳定了血糖水平,并减少了这两名患者的低血糖发作频率.
- 患者能够停止同时服用的药物,如二氧化和二氧化,并过渡到口服或胃口管养.
- 在治疗期间没有观察到任何显著的不良影响.
结论:
- 阿尔佩利西布显示出作为严重先天性高胰岛素症的有效辅助或初级治疗的潜力,改善血糖控制并减少治疗负担.
- 通过随机对照试验进行进一步的研究是有必要的,以确定alpelisib在CHI管理中的长期安全性和有效性.
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