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用酶替代疗法治疗的高氏病患者的内分泌和代谢概况

Ayse Kilic¹, Merve Emecen Sanli¹, Ekin Ozsaydı Aktasoglu¹

¹Department of Pediatrics, Department of Inborn Metabolic Diseases, Gazı University Faculty of Medicine, Eminiyet Mahallesi, Yenimahalle/Ankara, Türkiye.

Journal of pediatric endocrinology & metabolism : JPEM

|April 16, 2024

概括

氏病 (GD) 患者经常表现出内分泌异常,如高胰岛素症和低HDL,尽管通常不严重. 在GD患者的定期内分泌评估对于长期管理和监测酶替代疗法的有效性至关重要.

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:

氏病 (Gaucher disease,简称GD) 是一种由于葡萄糖大脑酶 (GCase) 缺乏而导致的溶解体储存障碍.
在巨细胞中脂积累导致炎症和器官透.
这种炎症状态可能会影响GD患者的内分泌特征.

研究的目的:

调查Gaucher病患者内分泌异常的流行情况.
评估GD和激素水平,脂质概况和骨矿物质密度之间的关系.
评估酶替代疗法 (ERT) 对这些异常的潜在影响.

主要方法:

研究了一组由13名高氏病患者组成的队列 (12名非神经病患者,1名亚急性神经病患者).
患者在酶疗法中治疗的平均持续时间为13.33年.
评估了内分泌学参数,包括激素水平,脂质概况和骨密度.

主要成果:

在13名患者中,有9名患者至少出现了一种内分泌异常.
超胰岛素是最常见的发现;所有患者的葡萄糖和HbA1c都是正常的.
骨质疏松症/骨质疏松症每人影响2名患者,在6名患者中观察到较低的HDL.

结论:

内分泌异常在GD患者中很常见,但可能不会导致严重的即时发病率.
潜在的长期并发症包括甲状腺,胰岛素耐药性和脂质特征问题.
建议GD患者进行常规内分泌学评估,以管理潜在的并发症并评估ERT的疗效.

关键词:

戈舍氏病是戈舍氏病的一种疾病.在内分泌学内分泌学.在这种情况下,胰岛素胰岛素.lysosomal 储存疾病 lysosomal 储存疾病甲状腺是什么?甲状腺是什么?

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