Table 1.
Demographic characteristics and results of chest CT and genetic testing
| All included patients (n = 88) | Chest CT already available (n = 20) | Chest CT performed in this study (n = 63) | No chest CT (n = 5) | |
|---|---|---|---|---|
| Age in years, median (range) | 34 (18–74) | 36 (19–74) | 35 (18–66) | 22 (21–34) |
| Female | 36 (40.9) | 10 (50.0) | 24 (38.1) | 2 (40.0) |
| Number of pneumothoraxes, median (range) | 1 (1–7) | 2 (1–6) | 1 (1–7) | 1 (1–1) |
| Age at first pneumothorax in years, median (range) | 29 (16–74) | 28.5 (17–74) | 30 (16–58) | 18 (17–25) |
| Side of pneumothorax | ||||
| Left | 34 (38.6) | 5 (25.0) | 28 (44.4) | 1 (20.0) |
| Right | 45 (51.1) | 11 (55.0) | 30 (47.6) | 4 (80.0) |
| Bilateral | 9 (10.2) | 4 (20.0) | 5 (7.9) | 0 |
| Family history of pneumothorax | 19 (21.6) | 4 (20.0) | 14 (22.2) | 1 (20.0) |
| Family history of renal cell carcinoma | 5 (5.7) | 3 (15.0) | 2 (3.2) | 0 |
| Smoking | ||||
| Current smoker | 27 (30.7) | 5 (20.0) | 20 (31.7) | 2 (40.0) |
| Past smoker | 39 (44.3) | 11 (55.0) | 27 (42.9) | 1 (20.0) |
| Never smoked | 22 (25.0) | 4 (20.0) | 16 (25.4) | 2 (40.0) |
| Chest CT | (out of n = 83) | |||
| 1 cyst | 8 (9.6) | 3 (15.0) | 5 (7.9) | NA |
| > 1 cyst | 6 (7.2) | 4 (20.0) | 2 (3.2) | NA |
| Emphysema-like changes | 35 (42.2) | 9 (45.0) | 26 (41.3) | NA |
| FLCN pathogenic variant | 3 (3.4) | 2 (10.0) | 1 (1.6) | 0 |
Results are presented as n(%) unless otherwise stated
NA Not applicable