Table 1 Summary of the clinical features and FLCN variants in patients with BHDS.
Feature | Frequency % (n) | Age first noted, median, range (n) | Age at report, median, range (n) | Geography % (n) | Genotype % (n) | References | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
NA | EU | EA | I | MS | FS/N | LD | T | |||||
Pulmonary cysts | 91.9 (720) | N/A | 46, 14–85 (394) | 89.0 (245) | 88.2 (152) | 96.8 (312) | 89.5 (86) | 90.7 (43) | 93.0 (571) | 75.0 (12) | 75 (8) | [2, 4,5,6, 8,9,10,11,12,13,14,15,16,17,18, 20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41] |
Pneumothorax | 50.9 (1038) | 34, 10–78 (257) | 46, 14–92 (344) | 35.1 (342) | 44.6 (336) | 73.9 (337) | 52.3 (109) | 62.3 (53) | 50.8 (834) | 39.4 (34) | 11.1 (9) | [2, 4,5,6, 8,9,10,11,12,13,14,15,16,17,18, 20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41] |
Renal malignancy | 22.5 (929) | 47, 14–83 (108) | 52, 14–92 (121) | 23.9 (314) | 27.1 (306) | 16.4 (286) | 29.0 (107) | 25.0 (56) | 21.7 (725) | 18.8 (32) | 11.1 (9) | [2, 6, 8, 10,11,12,13,14,15,16,17,18, 20, 21, 24,25,26,27,28,29, 31,32,33,34,35,36,37,38,39,40,41] |
Dermatological manifestations | 47.9 (989) | 38, 20–65 (44) | 51, 22–92 (213) | 73.4 (342) | 50.3 (304) | 20.6 (320) | 65.4 (104) | 26.9 (52) | 47.5 (794) | 26.7 (30) | 77.8 (9) | [2, 4,5,6, 8,9,10,11,12,13,14,15,16,17,18, 20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41] |
