Table 1 Patient characteristics in 96 cases of BHD
From: Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients
Cases with available data, n | value | |
|---|---|---|
Diagnosis by FLCN gene mutation, % | 96 | 93 |
Diagnosis by combination of other criteria, % | 96 | 7 |
Age at diagnosis, mean (SD) | 96 | 48 (14) |
Age at diagnosis in men, mean (SD) | 50 | 49 (15) |
Age at diagnosis in women, mean (SD) | 46 | 48 (14) |
Male sex, % | 96 | 52 |
Never-smokers, % | 95 | 49 |
Never-smokers in men, % | 50 | 40 |
Never-smokers in women, % | 45 | 60 |
Active smokers, % | 95 | 13 |
Active smokers in men, % | 50 | 16 |
Active smokers in women, % | 45 | 9 |
Former smokers, % | 95 | 38 |
Former smokers in men, % | 50 | 44 |
Former smokers in women, % | 45 | 31 |
Pack-years, mean (SD) | 47 | 14 (10) |
Pulmonary cysts on HRCT, % | 93 | 95 |
Cutaneous manifestations, % | 89 | 79 |
Renal tumours, % | 95 | 11 |
Familial history of pneumothorax and/or pulmonary cysts, % | 77 | 61 |
Familial history of BHD, % | 60 | 60 |
Dyspnea, % | 93 | 34 |
Cough, % | 93 | 15 |
Chest pain, % | 88 | 5 |
Hemoptysis, % | 91 | 1 |
Pneumothorax (≥ 1), % | 96 | 59 |
Age at first pneumothorax, mean (SD) | 15 | 33 (13) |
Number of pneumothoraces, mean (SD) | 96 | 1.6 (2.3) |
Pleurodesis, none / unilateral / bilateral, % | 94 | 56 / 30 / 14 |