We present a case of a 10-year-old boy initially diagnosed with CF based on NBS guidelines. However, as CF genetics knowledge has advanced, he has been reclassified as CFSPID based on normal investigations and excellent general clinical status, in line with updated CFSPID guidelines. This case highlights the significance of reviewing CF diagnoses according to the latest understanding of CFTR mutation phenotypes, as well as the patient's clinical status. In order to identify opportunities to save patients from burdensome CF treatment and management, we review current CFSPID guidelines, emphasizing care tailored to each individual case.

我们介绍了一名 10 岁男孩的病例，根据国家统计局的指南，该男孩最初被诊断为 CF。然而，随着 CF 遗传学知识的进步，根据更新的 CFSPID 指南，基于正常检查和出色的一般临床状态，他已被重新分类为 CFSPID。该病例凸显了根据对CFTR突变表型的最新了解以及患者的临床状态来审查 CF 诊断的重要性。为了找到机会使患者免于繁重的 CF 治疗和管理，我们回顾了现行的 CFSPID 指南，强调针对每个病例​​量身定制护理。