Table 1 Characteristic of the included studies
Study | Study design | Country | Diagnostic methods | Sample sizes | age | Female % | Spontaneous pneumothorax | A family history of spontaneous pneumothorax | lung cyst | Renal lesions |
|---|---|---|---|---|---|---|---|---|---|---|
[26] | Prospective study | Korea | FLCN mutation testing | 10 | 49.4 | 80 | 7 | 30% patients had a family history of pneumothorax | 80% | Cyst (50%) |
[19] | Retrospective study | Germany | FLCN mutation testing | 64 | 57.06 | 100 | 24 | NR | NR | NR |
[28] | Retrospective study | Japan | FLCN mutation testing | 22 | NR | 50 | 15 | NR | 77.27% | Tumor (22.73%) |
[23] | Retrospective study | Japan | FLCN mutation testing | 30 | 48.76 | 80 | 29 | 63.3% patients had a family history of pneumothorax. 10% patients had a family history of skin lesion. 6.7% patients had a family history of renal disease | 70% | Tumor (3.33%) |
[12] | Retrospective study | Korea | FLCN mutation testing | 12 | 41.3 | 66.7 | 8 | 41.67% patients had a family history of pneumothorax. 16.67% patients had a family history of skin lesion.8.3% patients had a family history of colon cancer | 100% | Tumor (25%) |
[20] | retrospective study | Korea | FLCN mutation testing | 26 | 51 | 57.7 | 14 | NR | NR | NR |
[21] | Retrospective study | Japan | FLCN mutation testing | 334 | 46 | 58.7 | 314 | 71.6% patients had a family history of pneumothorax. 16.1% patients had a family history of skin lesion.8% patients had a family history of renal tumors | 100% | Tumor (3.7%); cyst (7.5%) |
[17] | Retrospective study | China | FLCN mutation testing | 26 | 46 | 61.54 | 14 | NR | 100% | Tumor (15.38%) |
[25] | Retrospective study | Korea | the European BHD consortium | 43 | 54.2 | 58.14 | 23 | 27.9% patients had a family history of pneumothorax | 100% | NR |
[22] | Retrospective study | China | FLCN mutation testing | 27 | 48 | 88.89 | 20 | 81.48% patients had a family history of pneumothorax | 92.59% | Tumor (7.4%); cyst (14.8%) |
[32] | Retrospective study | France | The combination of clinical and imaging diagnostic criteria | 96 | 48 | 48 | 57 | 61% patients had a family history of pneumothorax and/or pulmonary cysts | 95% | Tumor (11%) |
[18] | Retrospective study | China | FLCN mutation testing | 33 | 48 | 93.9 | 17 | 75.8% patients had a family history of pneumothorax | 100% | NR |
[6] | Retrospective study | China | The criteria proposed by the European BHDS consortium | 76 | 44 | 61.84 | 48 | NR | 93.42% | Tumor (5.26%) |
[24] | Retrospective study | Netherlands | FLCN mutation testing | 158 | NR | NR | 61 | NR | 100% | NR |
[11] | Retrospective study | American | The presence of fibrofolliculom | 198 | 49 | 48.99 | 48 | 15.66% patients had a family history of pneumothorax | 89% | NR |
[30] | Retrospective study | American | NR | 104 | 47 | 82.69 | 79 | NR | 85% | Tumor (33%) |
[29] | Retrospective study | China | the European BHD consortium | 10 | 54.4 | 80 | 9 | 50% patients had a family history of pneumothorax | 100% | Tumor (10%); cyst (20%) |
[31] | Retrospective study | Netherlands | The presence of fibrofolliculom | 115 | NR | NR | 28 | NR | NR | Tumor (12%) |