一个患有复合异构合致病原性APOA5变体的儿童的严重家族高甘油三血症:病例报告和治疗挑战
Nikola Ilić1, Jovana Krstić1, Dimitrije Cvetković2
1Clinical Genetics Outpatient Clinic, Mother and Child Health Care Institute of Serbia "Dr Vukan Čupić", 11070 Belgrade, Serbia.
Journal of clinical research in pediatric endocrinology
|October 30, 2025
概括
对标准治疗有抗性的儿童的严重家族性高甘油三血症 (FHTG) 强调了早期基因检测的必要性. 这一案例凸显了单一性FHTG目前治疗方法的局限性.
科学领域:
- 遗传学 是一个遗传学.
- 代谢障碍 代谢障碍 代谢障碍
- 儿科内分泌学 儿科内分泌学
背景情况:
- 家族性高甘油三血症 (FHTG) 是一种罕见的遗传性脂质疾病.
- 严重的表型可以来自复合异合体或双合体APOA5变体.
研究的目的:
- 在儿科患者中报告严重FHTG病例.
- 为了说明单一性FHTG的诊断和治疗挑战.
- 强调早期遗传检测的作用.
主要方法:
- 一个男孩的病例报告,在2.5岁时被诊断出患有持续严重的高甘油三血症.
- 血清甘油三水平的监测,对饮食和药物治疗的反应 (纤维酸,欧米茄-3,他类药物,甲胺).
- 临床评估包括口服葡萄糖耐受性测试.
主要成果:
- 患者的甘油三水平持续高于10 mmol/L,在急性发作期间接近20 mmol/L.
- 尽管遵守低脂肪饮食和多种药物,但仍观察到低于最佳的生化控制.
- 在十年内保持正常的生长和临床健康.
结论:
- 早期遗传检测对于儿科失脂症至关重要.
- 传统的治疗方法在管理单源性严重FHTG方面存在局限性.
- 新兴的疗法,如反感性寡核酸和ANGPTL3抑制剂,提供了未来的潜力.
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