Patients with cystic fibrosis having a residual function mutation: Data from the Italian registry.

Donatello Salvatore Rita F PadoanRoberto BuzzettiAnnalisa AmatoBarbara GiordaniGianluca FerrariFabio Majo

Published in: Pediatric pulmonology (2018)

Patients with RF mutations are numerous in Italy and have a milder disease phenotype than do F508del homozygotes. Inside the RF group, F508del heterozygotes and, in particular, 3849 + 10kbC → T/F508del patients showed more severe pneumopathy.

Keyphrases

cystic fibrosis
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
peritoneal dialysis
electronic health record
early onset
lung function
deep learning