Characteristics of compound heterozygotes for the W846X mutation compared to homozygotes for the ΔF508 mutation
| W846X/ΔF508 | ΔF508/ΔF508 | p values | |
|---|---|---|---|
| *No significant difference at p=0.05. | |||
| Sex (males/females) | 4/6 | 4/6 | |
| Age on 31.12.99 (y) | |||
| Mean age (SD) | 22.48 ( 9.92) | 21.96 ( 9.31) | * |
| Median age | 20.6 | 21 | |
| Range | [11.5–41.2] | [10.3–39.4] | |
| Age at diagnosis (mth) | |||
| Mean age (SD) | 79.5 (137.08) | 29 (41.15) | * |
| Median age | 16.5 | 13 | |
| Range | [2–348] | [1–138] | |
| Status at diagnosis | |||
| Family history | 1 | 0 | * |
| Prenatal diagnosis | 0 | 0 | |
| Neonatal screening | 0 | 1 | * |
| Meconium ileus | 0 | 1 | * |
| Intestinal obstruction | 1 | 2 | * |
| Malnutrition | 3 | 4 | * |
| Diarrhoea | 6 | 1 | 0.0223 |
| Respiratory symptoms | 4 | 6 | * |
| Sweat chloride concentration (mEq/l) | |||
| Mean value (SD) | 126 (26) | 113 (22) | * |
| Median value | 124 | 111 | |
| Range | [100–156] | [90–140] | |
| Microbiology (No of patients) | |||
| Haemophilus influenzae | 3 | 1 | * |
| Staphylococcus aureus | 5 | 6 | * |
| Pseudomonas aeruginosa | 5 | 9 | 0.0571 |
| Stenotrophomonas maltophilia | 0 | 0 | |
| Burkholderia cepacia | 0 | 0 | |
| Aspergillus | 3 | 0 | 0.067 |
| Candida | 4 | 3 | * |
| Anthropometry | |||
| 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) | |||
| Cirrhosis | 0 | 1 | * |
| Diabetes mellitus | 1 | 3 | * |
| Gallstones | 2 | 0 | * |
| Pancreatitis | 0 | 0 | |
| Intestinal obstruction | 1 | 1 | |
| Haemoptysis | 0 | 1 | * |
| Nasals polyps | 4 | 3 | * |
| Pneumothorax | 0 | 1 | * |
| Arthropathy | 0 | 0 | |
| Allergic bronchopulmonary aspergillosis | 2 | 3 | * |
| Pancreatic insufficiency | 10 | 10 | |