G551D 突变型囊性纤维化患者汗液氯试验的预测潜能。
The predictive potential of the sweat chloride test in cystic fibrosis patients with the G551D mutation.
机构信息
Vertex Pharmaceuticals Incorporated, 130 Waverly Street, Cambridge, MA 02139-4242, USA; Faculty of Medicine, University of Ulm, Albert-Einstein-Allee 7, 89081 Ulm, Germany.
出版信息
J Cyst Fibros. 2013 Dec;12(6):706-13. doi: 10.1016/j.jcf.2013.03.004. Epub 2013 Apr 28.
BACKGROUND
Ivacaftor, a cystic fibrosis transmembrane regulator (CFTR) potentiator, decreased sweat chloride concentrations and improved clinical measures in cystic fibrosis (CF) patients with the G551D mutation.
RESULTS
Sweat chloride measurements at day 15 had an overall positive predictive value (PPV) of 86.3%, a negative predictive value (NPV) of 65.5%, sensitivity of 73.9%, and specificity of 80.9% for an FEV1 improvement of ≥5% from baseline at week 16. For ivacaftor patients the median FEV1 improvement was 16.7%; for placebo patients 0.4%. For patients aged 6-11 years who received ivacaftor and who had a sweat chloride decrease of ≥40 mmol/L from baseline at day 15, a median weight gain of 11.2% at week 16, compared to 6% for those with a smaller decrease was observed.
CONCLUSIONS
Changes in sweat chloride concentration at day 15 following treatment with ivacaftor may have sufficient predictive potential to identify individuals that show improvement in pulmonary function and weight gain after 16 weeks of treatment.
背景
Ivacaftor 是一种囊性纤维化跨膜转导调节剂（CFTR）增效剂，可降低汗液氯化物浓度并改善 G551D 突变的囊性纤维化（CF）患者的临床指标。
结果
第 15 天的汗液氯化物测量对于从第 16 周开始的 FEV1 改善≥5%的预测具有总体阳性预测值（PPV）为 86.3%，阴性预测值（NPV）为 65.5%，灵敏度为 73.9%，特异性为 80.9%。对于接受 Ivacaftor 治疗的患者，中位 FEV1 改善为 16.7%；安慰剂组患者为 0.4%。对于接受 Ivacaftor 治疗且第 15 天的汗液氯化物降低≥40mmol/L的 6-11 岁患者，与汗液氯化物降低较小的患者（6%）相比，第 16 周的体重中位数增加了 11.2%。
结论
治疗后第 15 天汗液氯化物浓度的变化可能具有足够的预测潜力，以确定在 16 周治疗后肺功能和体重增加改善的个体。
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