Table 3.
Comparison of patients with the c.-32–13T > G mutation and other mutations at the time of examination
| All | c.-32–13T > G | Other mutations | P-value | |
|---|---|---|---|---|
| Patients | 31 | 21 | 10 | – |
| M/F | 22/9 | 18/3 | 4/6 | |
| Age first symptom (median) | 2.6 (0.5–13) | 2 (0.5–13) | 4.0 (0.5–10) | 0.6 |
| Age diagnosis (median) | 4.0 (0–16) | 3.0 (0–16) | 4.5 (1–15) | 0.6 |
| Age at examination (median) | 10.1 (0.1–17.1) | 10.7 (0.1–17.1) | 10 (1.3–16.4) | 0.7 |
| Disease duration (median) | 5.1 (0.8–12.7) | 6.5 (1.3–12.7) | 4.1 (0.8–11.5) | 0.2 |
| Diagnosed pre-symptom. | 10 | 9 | 1 | – |
| Still symptom free | 5 | 4 | 1 | – |
| HHD sumscore (%) | 55 (n = 24) | 58 (n = 18) | 36 (n = 6) | 0.02 |
| FVC pred sitting (%)a | 82 | 82 | 58 | 0.15 |
| FVC pred supine (%)a | 79 | 80 | 55 | 0.08 |
Disease duration is calculated as time between the presentation of first symptoms and first examination in our hospital
aFor patients who didn’t perform lung function testing in supine position the value obtained in sitting position was used. For one patient using 24 h invasive ventilation a value of 0 % was used in the analyses