Park Hye Jung, Park Chul Hwan, Lee Sang Eun, Lee Geun Dong, Byun Min Kwang, Lee Sungsoo, Lee Kyung-A, Kim Tae Hoon, Kim Seong Han, Yang Seo Yeon, Kim Hyung Jung, Ahn Chul Min
Pulmonary Division, Department of Internal Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
Department of Radiology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea.
PLoS One. 2017 Feb 2;12(2):e0170713. doi: 10.1371/journal.pone.0170713. eCollection 2017.
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.
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.
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.
Our findings suggest that BHD can be detected if chest CT scans are read in detail.
Birt-Hogg-Dube综合征（BHD）是一种罕见疾病，由编码卵泡抑素（FLCN）的基因突变引起，呈常染色体显性遗传。BHD常伴有纤维毛囊瘤、肾肿瘤、多发性肺囊肿和自发性气胸。本研究的目的是在接受胸部计算机断层扫描（CT）的患者中前瞻性地检测BHD，并进一步评估韩国BHD的特征。
我们前瞻性地检查并回顾了2015年6月1日至2016年5月31日在韩国首尔江南Severance医院为10883例患者进行的胸部CT扫描。17例患者符合研究纳入标准，并接受了FLCN突变筛查以确诊BHD。我们分析了确诊为BHD的患者以及另外6例先前在韩国已被描述的患者的特征。
在10883例接受检查的患者中，有6例（0.06%）被诊断为BHD。BHD患者（n = 6）与非BHD患者（n = 11）在人口统计学或临床特征方面没有差异。50%的BHD患者存在气胸，但无典型的皮肤和肾脏病变。BHD组囊肿的最大尺寸（中位数39.4 mm；四分位间距[IQR] 11.4 mm）显著大于非BHD组（中位数15.8 mm；IQR 7.8 mm；P = 0.001）。BHD组100.0%的囊肿形态各异，而非BHD组仅18.2%的囊肿形态各异（P = 0.002）。在总共12例韩国BHD患者中，有9例（95%）曾发生气胸。20.0%的BHD患者存在典型的皮肤和肾脏病变。
我们的研究结果表明，如果仔细阅读胸部CT扫描，可以检测出BHD。
