Table 1.
Summary of clinical information of patients with Birt–Hogg–Dubé syndrome (BHD)
| Family no. | Gender | Age, years | No. of RCC | Treatments | Other findings | Prognosis (follow-up period, months) |
|---|---|---|---|---|---|---|
| BHD1 | Female | 46 | 1 | Nx | PTX, PC | NED (30) |
| BHD2 (proband) | Female | 69 | 2 | Rt. Nx | Skin tumors, PC | NED (54) |
| BHD2 (daughter) | Female | 46 | 1 | Lt. NSS | PC | NED (42) |
| BHD3 | Male | 61 | 1 | Nx, VATS | PTX, PC | Lung metastasis NED (42) |
| BHD4 | Male | 67 | 3 | Lt. Nx | Skin tumors, PC, Adrenal adenoma | NED (30) |
| BHD5 | Male | 54 | >5 | Lt. Nx, Rt. NSS | PC | NED (27) |
| BHD6 | Male | 65 | >5 | Bilateral Nx | PTX, PC | Dyalisis NED (25) |
| BHD7 | Male | 56 | 1 | Lt. Nx | PTX, PC | Lung metastasis DOD (78) |
| BHD8 | Male | 79 | 3 | Unoperated | PTX, PC, Prostatic Ca. | DEAD (23) |
| BHD9 | Female | 68 | 3 | Lt. NSS | PTX, PC Skin tumors | NED (18) |
| BHD10 | Female | 45 | 5 | Lt. Nx, Rt. Unoperated | PTX, PC Thyroid Ca. | AWD (390) |
| BHD11 | Male | 48 | 2 | Lt. Nx, Rt. NSS | PTX, PC | NED (174) |
| BHD12 | Female | 29 | 1 | Lt. NSS | PTX, PC | NED (19) |
| BHD13 | Male | 63 | 2 | Rt. Nx | PTX, PC Skin tumors | NED (18) |
| BHD14 | Female | 46 | 1 | Rt. NSS | PC | NED (9) |
| BHD15 | Female | 65 | 1 | Lt. NSS | PTX, PC | NED (9) |
| BHD16 | Male | 45 | 3 | Lt. Nx | PTX, PC | NED (9) |
| BHD17 | Female | 49 | 2 | Lt. and Rt. NSS | PC | NED (9) |
AWD, alive with disease; Ca, carcinoma; DEAD, died of prostatic cancer; DOD, died of disease; Lt., left; NED, no evidence of disease; NSS, nephron-sparing surgery; Nx, nephrectomy; PC, pulmonary cysts; PTX, pneumothorax; RCC, renal cell carcinoma; Rt., right; VATS, video-associated thoracic surgery.