Table 1 Clinical characteristics of exons 1–3 deletion carriers and point mutations carriers
Characteristics | Exons 1–3 deletion (N = 11) | Point mutations (N = 65) | P value |
|---|---|---|---|
Male/female | 3/8 | 26/39 | 0.739 |
Age at diagnosis (yr)* | 47 ± 12 (19–73) | 44 ± 14 (18–76) | 0.202 |
Smoking history (%) | 1 (9) | 7 (11) | 1 |
Pulmonary manifestations (%) | |||
Cysts on chest CT | 11/11 (100) | 60/62 (97) | 1 |
Number of cysts | |||
< 10 | 1 (9) | 7 (12) | 1 |
10–20 | 1 (9) | 15 (25) | 0.436 |
> 20 | 9 (82) | 38 (63) | 0.312 |
Size of maximum cysts (%) | |||
< 2 cm | 0 (0) | 12 (20) | 0.191 |
2–5 cm | 7 (64) | 31 (52) | 0.527 |
> 5 cm | 4 (36) | 17 (28) | 0.721 |
PTX (%) | 10/11 (91) | 38/65 (58) | 0.047 |
Age at onset of PTX (yr)* | 36 ± 11 (19–58) | 37 ± 12 (18–62) | 0.753 |
Number of PTX episodes* | 2 ± 3 (1–11) | 2 ± 2 (1–7) | 0.752 |
Renal cancer (%) | 2/11 (18) | 2/55 (4) | 0.126 |
Skin manifestations (%) | 8/9 (89) | 47/60 (78) | 0.674 |