Table 1.
Summary of the clinical features of PCD.
| Characteristics | P1 (family1:IV-4) | P2 (family2:IV-1) | P3 (family2: IV-2) | P4 (family3: IV-2) | P5 (family3: IV-3) | P6 (family4: IV-5) |
|---|---|---|---|---|---|---|
| Sex | Female | Male | Female | Female | Male | Female |
| Age | 60 y | 29 y | 23 y | 43 y | 41 y | 52 y |
| Onset | Childhood | Childhood | Childhood | Childhood | Childhood | Childhood |
| Consanguinity | Yes | Yes | Yes | Yes | Yes | Yes |
| Inbreeding coefficient | 1/16 | 1/16 | 1/16 | 1/16 | 1/16 | 1/16 |
| CT | Bronchiectasis Rhinosinusitis Visceral inversion | Bronchiectasis Rhinosinusitis | Bronchiectasis Rhinosinusitis | Bronchiectasis Rhinosinusitis Visceral inversion | Bronchiectasis Rhinosinusitis Visceral inversion | Bronchiectasis Rhinosinusitis Visceral inversion |
| Fertility problems | No | Unknown | Unknown | Yes | Yes | No |
| Smell problems | No | No | No | Yes | Yes | No |
| Hearing problems | No | No | No | No | No | No |
| Comorbidities | Asthma | No | No | TGA,ASD,PAH | No | Asthma |
| TEM | NA | NA | NA | NA | NA | Equivocal |
| PFT | ||||||
| FEV1% | 32% | 33% | 49% | 44% | NA | 37.2% |
| FEV1/FVC | 40.21% | 54.73% | 50% | 60% | NA | 36.37% |
| PaO2 | NA | 78 mmHg | 82 mmHg | 80 mmHg | NA | NA |
| Nasal NO | 23.6 ppb | 3.3 ppb | 31 ppb | 2.3 ppb | 8.3 ppb | 16.1 ppb |
TGA, corrected transposition of great arteries; ASD, atrial septal defect; PAH, pulmonary arterial hypertension; TEM, transmission electron microscopy; PFT, pulmonary function test; FEV1, forced expiratory volume in 1 second; FVC, forced vital capacity; Nasal NO, nasal nitric oxide measurement; NA, not available.