We present the case of a child given a CFSPID designation in early life who was later reclassified as having CF based on a combination of recurrent respiratory symptoms and CFTR functional testing, despite normal sweat chloride levels. Here we demonstrate the importance of monitoring these children, each time reviewing the diagnosis based on updated understanding of individual CFTR mutation phenotypes or clinical findings inconsistent with the designation. This case identifies situations in which the CFSPID designation should be challenged, and gives an approach for this when CF is suspected.

中文翻译：

---

囊性纤维化筛查阳性、囊性纤维化的不确定诊断 (CFSPID)：通过系列评估检测疾病

我们介绍了一名在生命早期被指定为 CFSPID 的儿童的病例，尽管汗液氯化物水平正常，但后来根据反复出现的呼吸道症状和 CFTR 功能测试的组合，该儿童被重新分类为患有 CF。在这里，我们展示了监测这些儿童的重要性，每次都根据对个体 CFTR 突变表型的最新理解或与指定不一致的临床发现来审查诊断。此案例确定了应质疑 CFSPID 指定的情况，并在怀疑存在 CF 时提供了一种方法。