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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