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Table 1 Patients characteristics

From: Novel folliculin gene mutations in Polish patients with Birt–Hogg–Dubé syndrome

Family Patient Sex Age at diagnosis ( years) Age at first pneumothorax (years) Lung Skin Kidney Smoking (pack/ years) Pneumothora× symptomatic Asthma Others Other cancers Benign tumours
1 1.1 M 45 30 Yes Yes cyst 0 3 No Hypothyroidism psoriasis No No
2 2.1 W 26 26 Yes No No 0 0 Yes No No No
  2.2 W 60 48 Yes No No 0 3 Yes Arterial hypertension No No
  2.3 M 36 31 Yes No No 5 4 Yes No No No
3 3.1 W 68 66 Yes No AML, cyst 4 0 Yes Arterial hypertension No Myoma uteri, endometriosis
4 4.1 W 54 34 Yes Yes No 1,5 4 No No No Breast fibroadenoma, myoma uteri
5 5.1 W 50 30 Yes Yes No 0 0 No No No Ovarian cyst
  5.2 W 44 34 Yes No No 0 3 Yes Arterial hypertension No No
6 6.1 W 62 47 Yes No Bilateral kidney cancer 5 5 No No No Myoma uteri
7 7.1 W 35 20 Yes Yes No 0 5 No No No No
8 8.1 W 54 43 Yes No No 0 2 No Yes Ovarian cancer No
  8.2 W 27 21 Yes No No 0 3 No No No No
9 9.1 W 52 50 Yes No cyst 2 0 No Hypothyroidism No  
10 10.1 W 40 34 Yes No cyst 0 3 No No No Endometriosis
  10.2 W 62 62 Yes No No 0 2 No No No  
Mean (SD)    47.7 ± 12.96 38.4 ± 13.9     2,1 ± 1,37 2.46 ± 1.76     
All      15 (100%) 4 (27%) 2 (12%)   11 (70%) 5 (33%)   1 (7%)  
  1. AML—renal angiomyolipoma, No—no lesion was detected, Yes—presence of lesions