TABLE 1

Data Regarding Infants With the ΔF508/R117H-7T Genotype

PatientIRT, ng/mLInitial Sweat Chloride Concentration, mmol/L (Age)aRepeat Sweat Chloride Concentration, mmol/L (Age)aOropharyngeal Culture Results, Age, mo (Organism)Clinical Signs and SymptomsPancreatic Status, hFE-1 μg/gmWeight for Height, %
A.B.17624 and 24 (6 wk)52 and 54 (21 mo)21 (P aeruginosa, E coli)Hyperinflation and peribronchial cuffing on chest radiograph; coughPS (ND)<3
27 (H influenzae)
29 (S marcescens)
J.B.22723 and 26 (1 mo)27 and 29 (22 mo)2 (E coli; Moraxella catarrhalis)Hyperinflation and peribronchial cuffing on chest radiograph; no pulmonary symptomsPS (>500)5
7 (E coli)
10 (E coli)
A.Z.64.641 and 44 (1 mo)32 and 39 (5 mo)3 (E coli)Increased work of breathing, cough, fever at 10 mo of agePS (>500)75
10 (P aeruginosa)
14 (S aureus)Bilateral lower lobe infiltrates on chest radiograph film
J.E.ND31 and 32 (1 mo)ND30 (P aeruginosa)Hyperinflation and peribronchial cuffing on chest radiograph; no pulmonary symptomsPS (ND)50
  • PS indicates pancreatic sufficient (pancreatic enzyme supplements not required); hFE-1, human fecal elastase 1 (values >200 indicate normal pancreatic function); ND, not done.

  • a All sweat chloride tests were performed in duplicate using pilocarpine iontophoresis. For newborns: reference value, <30 mmol/L; borderline, 30–60 mmol/L; positive for CF, >60 mmol/L.2,23