在急性和慢性胰腺炎中进行生殖线多基因小组测试
Mitchell L Ramsey1, Brandie Heald2, Yevgeniya Gokun3
1Division of Gastroenterology, Hepatology, and Nutrition, The Ohio State University Wexner Medical Center, Columbus, Ohio, United States of America.
PloS one
|August 22, 2024
概括
对胰腺炎的生殖系遗传检测显示,年轻患者的阳性结果更高. 然而,临床上有意义的发现发生在所有年龄段,建议为每个人提供遗传咨询.
科学领域:
- 遗传学 遗传学 是一个
- 胃肠病学 胃肠病学
- 医学诊断 医学诊断 医学诊断
背景情况:
- 建议对年轻的异常性胰腺炎患者进行生殖基因检测.
- 对35岁以上的患者缺乏共识.
- 这项研究分析了跨年龄组的基因测试结果.
研究的目的:
- 分析患有胰腺炎的患者的生殖系遗传检测结果.
- 根据患者年龄来比较结果.
- 为了确定与阳性胰腺炎遗传检测相关的因素.
主要方法:
- 对胰腺炎易感基因 (CASR,CFTR,CPA1,CTRC,PRSS1,SPINK1) 进行了生殖线多基因测试.
- 评估了2,468名受试者的数据.
- 多变量后勤回归确定了与阳性胰腺炎面板相关的因素.
主要成果:
- 对于急性或慢性胰腺炎的阳性遗传结果的患病率在35岁以下的患者 (32.1%) 和≥35岁 (24.5%) 中较高.
- 临床上有意义的结果在年轻患者中更频繁 (10.8%对5.4%).
- 积极的家族病史强烈预测了积极的结果 (OR 8.59),而较大的年龄在测试时降低了几率 (OR 0.89每5年).
结论:
- 患有胰腺炎家族病史的年轻人表现出致病变体的患病率最高.
- 在老年人中发现了临床上有意义的结果,这表明了更广泛的实用性.
- 对所有出现胰腺炎的年龄组应考虑遗传咨询和检测.
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