Article
Cystic fibrosis to CFSPID: Burden of care vs need and rational approach to weaning therapies.
Paediatric respiratory reviews - 1 Sept 2023
Andreou S Hadjisymeou, Davies J C
Abstract excerpt
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,...
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