Mean (SD) arterial blood gas tensions and lung function tests
| Relatives | Controls | |
| Pao 2 (kPa) | 11.9 (1.2) | 11.6 (0.9) |
| Paco 2 (kPa) | 5.1 (0.5) | 5.3 (0.4) |
| O2 saturation (%) | 97 (1) | 96 (1) |
| pH | 7.39 (0.02) | 7.40 (0.02) |
| FVC (% pred) | 99 (11) | 100 (16) |
| FEV1 (% pred) | 104 (10) | 102 (20) |
| FEV1/FVC (% pred) | 82 (7) | 78 (8) |
| TLC (% pred) | 100 (15) | 105 (13) |
| RV (% pred) | 93 (32) | 110 (42) |
| FRC (% pred) | 89 (17) | 104 (32) |
| Tlco(%pred) | 78 (15) | 86 (12) |
| Tlco/Vt (% pred) | 91 (19) | 94 (15) |
| MIP (% pred) | 99 (32) | 105 (19) |
| MEP (% pred) | 59 (15) | 64 (15) |
Pao 2, Paco 2 = arterial oxygen and carbon dioxide tensions; FVC = forced vital capacity; FEV1 = forced expiratory volume in one second; TLC = total lung capacity; RV = residual volume; FRC = functional residual capacity; Tlco = carbon monoxide transfer factor; Vt = tidal volume; MIP = maximum inspiratory pressure; MEP = maximum expiratory pressure.