Data from: Birt-Hogg-Dube syndrome prospectively detected by review of chest computed tomography scans

Purpose: Birt-Hogg-Dube syndrome (BHD) is a rare disorder caused by mutations in the gene that encodes folliculin (FLCN) and is inherited in an autosomal dominant manner. BHD is commonly accompanied by fibrofolliculomas, renal tumors, multiple pulmonary cysts, and spontaneous pneumothorax. The aim of this study was to detect BHD prospectively in patients undergoing chest computed tomography (CT) scans and to evaluate further the characteristics of BHD in Korea. Methods: We prospectively checked and reviewed the chest CT scans obtained for 10,883 patients at Gangnam Severance Hospital, Seoul, Korea, from June 1, 2015 to May 31, 2016. Seventeen patients met the study inclusion criteria and underwent screening for FLCN mutation to confirm BHD. We analyzed the characteristics of the patients confirmed to have BHD and those for a further 6 patients who had previously been described in Korea. Results: Six (0.06%) of the 10,883 patients reviewed were diagnosed with BHD. There was no difference in demographic or clinical features between the patients with BHD (n=6) and those without BHD (n=11). Pneumothorax was present in 50% of the patients with BHD but typical skin and renal lesions were absent. The maximum size of the cysts in the BHD group (median 39.4 mm; interquartile range [IQR] 11.4 mm) was significantly larger than that in the non-BHD group (median 15.8 mm; IQR 7.8 mm; P = 0.001). Variable morphology was seen in 100.0% of the cysts in the BHD group but in only 18.2% of the cysts in the non-BHD group (P = 0.002). Nine (95%) of the total of 12 Korean patients with BHD had experienced pneumothorax. Typical skin and renal lesions were present in 20.0% of patients with BHD. Conclusions: Our findings suggest that BHD can be detected if chest CT scans are read in detail.

### 研究目的
伯-霍-杜布综合征（Birt-Hogg-Dube syndrome, BHD）是一种罕见的遗传性疾病，由编码卵泡蛋白（folliculin, FLCN）的基因突变所致，呈常染色体显性遗传模式。BHD常伴发纤维毛囊瘤、肾肿瘤、多发性肺囊肿及自发性气胸。本研究旨在对接受胸部计算机断层扫描（computed tomography, CT）的患者开展前瞻性BHD筛查，并评估韩国人群中BHD的临床特征。

### 研究方法
本研究前瞻性筛查并回顾分析了2015年6月1日至2016年5月31日期间，韩国首尔江南Severance医院收治的10883例患者的胸部CT影像。其中17例符合研究纳入标准，接受了FLCN基因突变筛查以确诊BHD。我们对确诊BHD的患者的临床特征进行了分析，并纳入了此前韩国文献中报道的另外6例BHD患者。

### 研究结果
在纳入分析的10883例患者中，6例（0.06%）被确诊为BHD。BHD患者（n=6）与非BHD患者（n=11）在人口统计学特征及临床特征上均无显著差异。BHD患者中50%存在自发性气胸，但未出现典型皮肤与肾脏病变。BHD组患者的囊肿最大直径（中位数39.4mm；四分位间距（interquartile range, IQR）11.4mm）显著大于非BHD组（中位数15.8mm；四分位间距7.8mm；P=0.001）。BHD组囊肿的形态多样性发生率达100.0%，而非BHD组仅为18.2%（P=0.002）。韩国地区总计12例BHD患者中，9例（95%）曾发生自发性气胸。20.0%的BHD患者存在典型皮肤与肾脏病变。

### 研究结论
本研究结果提示，若对胸部CT影像进行细致读片，即可检出伯-霍-杜布综合征。