Table 1 Demographic, clinical and laboratory data of CF patients from São Miguel, distributed by CFTR genotypes
From: A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)
Patient features | CFTR genotypes | |||
|---|---|---|---|---|
Homozygous | Compound heterozygous | Total | ||
p.[Phe508del/ Phe508del] | c.120del23/ p.Phe508del | p.[Ser4Ter; Gln1100Pro] | ||
Demographic and familiar data | ||||
Patient ID (n) | Pt1-Pt8, Pt10, Pt13, Pt14 (11) | Pt11, Pt12 (2) | Pt9 (1) | 14 |
Gender (female:male ratio) | 5:6 | 1:1 | 1:0 | 1:1 |
Family history (nb of patients) | 5/11 | 1/2 | 0/1 | 6/14 |
Consanguinity (nb of patients) | 3/11 | 0/2 | 0/1 | 3/14 |
Clinical data | ||||
Age at diagnosis (years; median ± IQR) | 0.2 ± 0.3 | 5.9 ± 0.0 | 4.2 | 0.2 ± 1.3 |
Initial symptoms (nb of patients) | ||||
Prenatal testing | 1/11 | 0/2 | 0/1 | 1/14 |
Meconium ileus | 4/11 | 1/2 | 0/1 | 5/14 |
Respiratory infections | 6/11 | 1/2 | 1/1 | 8/14 |
Growth failure | 5/11 | 0/2 | 1/1 | 6/14 |
Additional symptoms (nb of patients) | ||||
Respiratory infections | 11/11 | 2/2 | 1/1 | 14/14 |
Exocrine pancreatic insufficiency | 11/11 | 2/2 | 1/1 | 14/14 |
CF-related diabetes | 1/11 | 1/2 | 0/1 | 2/14 |
Sweat chloride concentration (mmol/L; mean ± SD) | 101.3 ± 18.3 | 94.5 ± 34.6 | 113 | 101.1 ± 19.2 |
BMI (kg/m2; mean ± SD) | 17.7 ± 3.4 | 17.9 ± 1.8 | 20.8 | 18.0 ± 3.1 |
FEV1ª (% of predicted values) | ||||
First value (mean ± SD) | 98.2 ± 16.5 | 60.1 ± 0.7 | 65.9 | 89.8 ± 21.4 |
Last value (mean ± SD) | 85.9 ± 26.4 | 59.3 ± 0.4 | 42.5 | 78.4 ± 27.1 |
Bacterial flora characteristics | ||||
First isolation (age in years mean ± SD) | ||||
Pseudomonas aeruginosa | 4.8 ± 2.7 | 7.5 ± 6.3 | 4.5 | 5.2 ± 3.1 |
Burkholderia cepacia | 5.7 ± 0.2 | NA | 6.3 | 5.9 ± 0.4 |
Staphylococcus aureus | 3.1 ± 1.3 | 7.5 ± 4.9 | 4.0 | 3.8 ± 2.4 |
Exacerbations per year per patient (mean ± SD) | 1.7 ± 1.0 | 2.1 ± 1.8 | 1.8 | 1.7 ± 1.0 |
Admissions per year per patient (mean ± SD) | 0.3 ± 0.3 | 1.6 ± 2.6 | 0.3 | 0.5 ± 0.9 |