Cystic fibrosis to CFSPID: Burden of care vs need and rational approach to weaning therapies

Paediatr Respir Rev. 2023 Sep:47:27-29. doi: 10.1016/j.prrv.2023.07.002. Epub 2023 Jul 13.

Abstract

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.

Keywords: CFSPID; CFTR variants; Cystic fibrosis; Variants of varying clinical consequence.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Cystic Fibrosis Transmembrane Conductance Regulator / genetics
  • Cystic Fibrosis* / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mutation
  • Neonatal Screening
  • Phenotype
  • Weaning

Substances

  • Cystic Fibrosis Transmembrane Conductance Regulator