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对V. Martín-Dominguez等人的回应. :重新评估乳糖吸收不良的诊断方法
C Hermida Díaz1, B Pascual Miguel1, C Ferreras Puente1
1Research and Innovation Department, Venter Pharma SL, Madrid, Spain.
Neurogastroenterology and motility
|November 30, 2025
概括
仅通过基因检测就不足以诊断乳糖吸收不良,因为它测量了倾向性,而不是实际吸收. 功能测试对于准确的诊断和避免临床误解至关重要.
科学领域:
- 胃肠病学 胃肠病学
- 遗传学 是一个遗传学.
- 诊断测试 诊断测试 诊断测试 诊断测试 诊断测试
背景情况:
- 最近的一项研究提出了基因测试作为乳糖吸收不良的主要诊断工具.
- 这一结论是基于与乳糖呼吸测试 (LBT) 的高度一致性.
研究的目的:
- 批判性地评估基因测试的拟议使用,作为乳糖吸收不良的唯一诊断方法.
- 要突出原始研究中的概念和方法限制.
主要方法:
- 基因测试,乳糖呼吸测试 (LBT) 和加克西洛斯测试的比较,并指出它们测量不同的生理方面.
- 通过有限的活检确认引入的诊断偏差的分析,排除二次性缺血,并依赖基因型.
主要成果:
- 遗传测试,LBT和Gaxilose测试是不可互换的,因为它们测量不同的参数 (预易性与恶性吸收与酶活性).
- 由于遗传多形态的种群变异性,未报告的并发症 (SIBO,IBS) 和不可靠的症状评估,临床有效性值得怀疑.
- 多中心证据支持高灵敏度,特异性和耐受性高的Gaxilose测试.
结论:
- 仅靠基因检测就不足以诊断乳糖吸收不良,也不能取代功能性或结构性评估.
- 原始研究的结论可能会在临床实践中导致不准确的诊断建议.
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