Center for Cystic Fibrosis and Airways Disease Research, Emory University Department of Pediatrics and Children's Healthcare of Atlanta, Atlanta, GA, USA.
Center for Cystic Fibrosis and Airways Disease Research, Emory University Department of Pediatrics and Children's Healthcare of Atlanta, Atlanta, GA, USA; Division of Medical Genetics, Department of Human Genetics, Emory University, Atlanta, GA, USA.
Paediatr Respir Rev. 2024 Mar;49:28-33. doi: 10.1016/j.prrv.2023.08.004. Epub 2023 Aug 24.
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.
新生儿筛查（NBS）能够更早地诊断囊性纤维化（CF），并改善 CF 患儿的营养和生长相关结局。对于那些 NBS 阳性但不符合 CF 诊断标准的患儿，使用 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 CRMS 患儿仍相对无症状，但研究表明，这些患儿中约有 11%至 48%可能随着时间的推移最终进展为 CF 诊断。尽管 CF 基金会的 CRMS 管理指南和欧洲 CF 学会的 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病例场景，这些场景突出了 CRMS 指南中仍存在的差距，因此支持更新和统一现有指南的需求。
