Table 1.
Patient characteristics of all patients and by variant groups, and the statistical comparison between variant groups, KIF15 missense, SPDL1 missense, TERT, and No Qv (patients without any of these variants)
| All patients (N = 135) | KIF15 missense (N = 5) | SPDL1 missense (N = 21) | TERT (N = 8) | No Qv (N = 100) | Sig | |
|---|---|---|---|---|---|---|
| Background and comorbidities | ||||||
| Female sex | 43 (32%) | 0 (0%) | 7 (33%) | 1 (13%) | 35 (35%) | 0.313 |
| Male sex | 92 (68%) | 5 (100%) | 14 (67%) | 7 (88%) | 65 (65%) | 0.313 |
| Family history of pulmonary fibrosis | 8 (6%) | 0 (0%) | 1 (5%) | 2 (25%) | 5 (5%) | 0.173 |
| Smoking history | 86 (64%) | 4 (80%) | 17 (81%) | 5 (63%) | 59 (59%) | 0.250 |
| Cancers | 33 (24%) | 1 (20%) | 6 (29%) | 1 (13%) | 25 (25%) | 0.899 |
| BMI, kg/m2 | 28.0 (25.0–30.0) | 34.0 (28.1–36.0) | 28.0 (25.4–31.1) | 27.4 (25.2–32.8) | 27.3 (24.9–30.0) | 0.131 |
| Comorbidities, N | 4.0 (2.0–6.0) | 5.0 (2.0–7.5) | 3.0 (1.5–7.0) | 3.5 (0.5–4.8) | 4.0 (2.0–6.0) | 0.450 |
| Treatment and prognosis | ||||||
| Antifibrotic treatment | 79 (59%) | 4 (80%) | 10 (48%) | 4 (50%) | 60 (60%) | 0.519 |
| Lung transplantation | 15 (11%) | 2 (40%) | 1 (5%) | 3 (38%) | 8 (8%) | 0.013* |
| Oxygen therapy | 43 (32%) | 4 (80%) | 7 (33%) | 3 (38%) | 29 (29%) | 0.126 |
| Acute exacerbations | 34 (25%) | 1 (20%) | 5 (24%) | 1 (13%) | 27 (27%) | 0.925 |
| Deceased | 62 (46%) | 1 (20%) | 12 (57%) | 2 (25%) | 46 (46%) | 0.318 |
| Age at diagnosis, years | 71.0 (65.0–75.0) | 54.0 (36.5–69.5) | 68.0 (65.0–76.0) | 67.0 (59.3–70.3) | 72.0 (66.0–76.0) | 0.016* |
| Age at death, years | 78.8 (74.1–83.0) | 61.2 (61.2–61.2) | 77.5 (69.9–80.2) | 74.1 (71.3–74.1) | 79.6 (74.7–84.2) | 0.075 |
| Age at transplant, years | 61.1 (49.8–65.0) | 40.2 (30.9–40.2) | 63.5 (63.5–63.5) | 68.0 (63.7–68.0) | 57.4 (50.7–61.6) | 0.033* |
| Age at death or transplant, years | 76.5 (68.5–81.4) | 49.4 (30.9–49.4) | 76.3 (68.7–80.0) | 68.7 (64.8–74.9) | 78.6 (72.3–83.8) | 0.013* |
| Symptoms at diagnosis | ||||||
| Dyspnoea | 68 (50%) | 3 (60%) | 13 (62%) | 3 (38%) | 49 (49%) | 0.637 |
| Cough | 69 (51%) | 1 (20%) | 8 (38%) | 4 (50%) | 55 (55%) | 0.269 |
| Laboratory findings at diagnosis | ||||||
| Macrocytosis | 30 (22%) | 1 (20%) | 5 (24%) | 2 (25%) | 21 (21%) | 0.942 |
| Thrombocytopenia | 18 (13%) | 1 (20%) | 2 (10%) | 1 (13%) | 13 (13%) | 0.895 |
| Radiological findings at diagnosis | ||||||
| Traction bronchiectasis | 132 (98%) | 5 (100%) | 21 (100%) | 8 (100%) | 97 (97%) | 1.000 |
| Honeycombing | 108 (80%) | 4 (80%) | 15 (71%) | 4 (50%) | 85 (85%) | 0.050* |
| Ground-glass opacity | 25 (19%) | 2 (40%) | 4 (19%) | 0 (0%) | 18 (18%) | 0.324 |
| Right ventricular strain | 17 (13%) | 1 (20%) | 3 (14%) | 0 (0%) | 13 (13%) | 0.697 |
| Emphysema | 32 (24%) | 1 (20%) | 6 (29%) | 1 (13%) | 24 (24%) | 0.896 |
| Pulmonary function at diagnosis | ||||||
| FVC, L | 2.96 (2.42–3.70) | 3.35 (2.77–3.58) | 2.97 (2.52–3.48) | 3.41 (2.71–4.22) | 2.90 (2.29–3.76) | 0.468 |
| FVC, % predicted | 81.0 (68.0–93.0) | 59.0 (51.5–90.0) | 79.0 (69.5–89.5) | 73.0 (64.3–97.5) | 84.5 (70.3–94.8) | 0.327 |
| FEV1, L | 2.37 (2.00–3.00) | 2.73 (2.27–2.76) | 2.21 (2.08–2.72) | 2.55 (2.20–3.57) | 2.34 (1.91–3.04) | 0.587 |
| FEV1, % predicted | 80.0 (72.8–94.3) | 66.0 (55.0–84.0) | 77.0 (72.5–90.5) | 77.0 (62.0–103.0) | 83.0 (74.0–95.8) | 0.275 |
| DLCO, % predicted | 59.0 (50.0–69.3) | 52.0 (37.0–64.5) | 56.0 (45.5–70.5) | 62.5 (47.5–75.5) | 60.0 (52.0–69.0) | 0.423 |
Bold values are statistically significant p < 0.05