Table 3. Clinical and FLCN gene characteristics in BHD group.
| No | Age | Sex | Skin lesion | Renal lesion | Renal function impairment | Lung function impairment | Pneumothorax history | FLCN gene mutation | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Typical | Atypical | Typical | Atypical | Rt | Lt | ||||||
| 1 | 43 | M | None | None | None | None | None | None | 0 | 1 | c.1215C>G |
| 2 | 57 | F | None | Yes* | N/A | N/A | None | None | 2 | 0 | c.1285dupC |
| 3 | 60 | M | None | None | None | None | None | None | 0 | 0 | c.1285dupC |
| 4 | 70 | F | None | None | None | Yes† | None | None | 1 | 0 | c.1557delT |
| 5 | 31 | F | N/A | N/A | N/A | N/A | None | None | 0 | 0 | c.1557delT |
| 6 | 76 | M | N/A | N/A | None | Yes‡ | None§ | None | 0 | 0 | c.1285delC |
*Fibroma on nose
†multiple renal cysts
‡renal cell carcinoma (clear cell type)
§proteinuria and hematuria.
Abbreviations: BHD: Birt-Hogg-Dube syndrome; FLCN, folliculin; N/A, not available.