Table 1

Characteristics of compound heterozygotes for the W846X mutation compared to homozygotes for the ΔF508 mutation

W846X/ΔF508ΔF508/ΔF508p values
*No significant difference at p=0.05.
Sex (males/females)4/64/6
Age on 31.12.99 (y)
    Mean age (SD)22.48 ( 9.92)21.96 ( 9.31)*
    Median age20.621
Age at diagnosis (mth)
    Mean age (SD)79.5 (137.08)29 (41.15)*
    Median age16.513
Status at diagnosis
    Family history10*
    Prenatal diagnosis00
    Neonatal screening01*
    Meconium ileus01*
    Intestinal obstruction12*
    Respiratory symptoms46*
Sweat chloride concentration (mEq/l)
    Mean value (SD)126 (26)113 (22)*
    Median value124111
Microbiology (No of patients)
    Haemophilus influenzae31*
    Staphylococcus aureus56*
    Pseudomonas aeruginosa590.0571
    Stenotrophomonas maltophilia00
    Burkholderia cepacia00
    Height (Z score) (SD)−0.59 (1.06)−0.31 (1.22)*
    Weight (Z score) (SD)−0.39 (1.57)−0.71 (1.66)*
    BMI (SD)19.27 (3.87)18.04 (3.28)*
Pulmonary status (% of predicted value)
    FEV1 (SD)73.49 (33.37)53.93 (37.19)*
    FCV (SD)80.86 (28.05)68.88 (30.35)*
Clinical events (No of patients)
    Diabetes mellitus13*
    Intestinal obstruction11
    Nasals polyps43*
    Allergic bronchopulmonary aspergillosis23*
    Pancreatic insufficiency1010