Matthieu Thimmesch, Jessica Meurrens, Aline Tataris, Jessica Pirson, Anne Tamigniau
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引用次数: 0
摘要
氯化物(Cl-)汗液测试仍是诊断囊性纤维化的参考测试,可直接评估 CFTR(囊性纤维化跨膜传导调节器)通道的功能。在高效调节剂(如 Elexacaftor、Tezacaftor 和 Ivacaftor 的组合(ETI))的作用下,汗液中的 Cl- 水平会显著改善,正如我们的患者队列在引入 ETI 后所显示的那样。除了在疾病诊断中的作用外,汗液检测对于不符合 ETI 条件的患者的个体临床试验(n-of-1)和新生儿囊性纤维化筛查也很重要。
[Sweat test evolution in cystic fibrosis patients treated with Elexacaftor/Tezacaftor/Ivacaftor].
The chloride (Cl-) sweat test remains the reference test in the diagnosis of cystic fibrosis, allowing direct assessment of CFTR (Cystic Fibrosis Transmembrane conductance Regulator) channel function. Under highly effective modulators such as the combination of Elexacaftor, Tezacaftor and Ivacaftor (ETI), the Cl- level in sweat significantly improves, as shown in our cohort of patients when ETI was introduced. In addition to its role in the diagnosis of the disease, the sweat test is also important for individual clinical trials (n-of-1) in patients not eligible for ETI and for newborn screening for cystic fibrosis.