Newborn screening (NBS) for cystic fibrosis (CF) has enabled earlier diagnosis and has improved nutritional and growth-related outcomes in children with CF. For those with a positive NBS for CF that do not meet the diagnostic criteria for CF, the clinical entity called CFTR-Related Metabolic Syndrome (CRMS) or CF Screen- Positive, Inconclusive Diagnosis (CFSPID) is used. Although most children with CRMS remain relatively asymptomatic, studies have shown that between 11% and 48% of these patients may eventually progress to a diagnosis of CF over time. Although the CF Foundation guidelines for CRMS management and European CF Society guidelines for CFSPID have some similarities, there are also some differences. Here, we review challenging case scenarios that highlight remaining gaps in CRMS guidelines, thus supporting the need to update and unify existing guidelines.

中文翻译：

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CFTR 相关代谢综合征的诊断挑战：指南的不足之处

新生儿囊性纤维化 (CF) 筛查 (NBS) 可以实现早期诊断，并改善 CF 儿童的营养和生长相关结果。对于 CF NBS 阳性但不符合 CF 诊断标准的患者，可使用称为 CFTR 相关代谢综合征 (CRMS) 或 CF 筛查阳性、不确定诊断 (CFSPID) 的临床实体。尽管大多数患有 CRMS 的儿童相对无症状，但研究表明，随着时间的推移，这些患者中 11% 至 48% 的患者最终可能会发展为 CF 的诊断。尽管 CF 基金会的 CRMS 管理指南和欧洲 CF 协会的 CFSPID 指南有一些相似之处，但也存在一些差异。在这里，我们回顾了具有挑战性的案例场景，突出了 CRMS 指南中剩余的差距，从而支持更新和统一现有指南的需要。