Division of Respiratory Medicine, Juntendo University Faculty of Medicine and Graduate School of Medicine, Tokyo, Japan.
Pneumothorax Research Center and Division of Thoracic Surgery, Nissan Tamagawa Hospital, Tokyo, Japan.
Respirology. 2018 Apr;23(4):414-418. doi: 10.1111/resp.13191. Epub 2017 Sep 27.
Birt-Hogg-Dubé syndrome (BHDS) is a rare hereditary disease that presents with multiple lung cysts and pneumothorax (PTX). Although some reports propose that findings from chest computed tomography enable one to distinguish BHDS from primary spontaneous pneumothorax (PSP), it is still unclear whether clinical features are useful for identifying patients with suspicion of BHDS from those with PTX.
We retrospectively reviewed the medical records of patients with PTX who underwent video-assisted thoracoscopic surgery at Nissan Tamagawa Hospital from January 2012 to December 2015.
We identified a total of 1141 patients with PTX, including 54 with BHDS and 517 with PSP. Among them, logistic regression analysis segregated five features that were significantly associated with BHDS: familial history of PTX, past history of bilateral PTX, age at the first episode of PTX (≥25 years old (y.o.)), body mass index (≥18.5) and gender (female). We assigned scores of 3, 3, 2, 2 and 1 to the five features, respectively, to establish a system with a calculated score from 0 to 11. The cut-off value of a calculated score ≥ 4 yielded the highest sensitivity of 93% and specificity of 86%. Receiver operating characteristic (ROC) analysis showed the area under the curve reflecting an accuracy of this diagnostic test as 0.953.
BHDS has several clinical features distinct from PSP. Our scoring system consists of only five clinical variables that are easily evaluated and efficiently separate BHDS patients from those who have PTX without relying on an imaging study. Further prospective study is needed to confirm our findings.
Birt-Hogg-Dubé 综合征（BHDS）是一种罕见的遗传性疾病，表现为多发肺囊肿和气胸（PTX）。尽管一些报告提出胸部计算机断层扫描（CT）的结果可以帮助区分 BHDS 与原发性自发性气胸（PSP），但目前尚不清楚临床特征是否有助于将疑似 BHDS 患者与 PTX 患者区分开来。
我们回顾性分析了 2012 年 1 月至 2015 年 12 月在日产汽车滨川医院接受电视辅助胸腔镜手术（VATS）治疗的 PTX 患者的病历。
我们共确定了 1141 例 PTX 患者，其中 54 例为 BHDS，517 例为 PSP。其中，逻辑回归分析分离出与 BHDS 显著相关的 5 个特征：PTX 的家族史、双侧 PTX 的既往史、PTX 首次发作的年龄（≥25 岁）、体质指数（≥18.5）和性别（女性）。我们分别为这 5 个特征赋予 3、3、2、2 和 1 的评分，建立了一个评分从 0 到 11 的系统。计算评分≥4 的截断值产生了 93%的最高敏感性和 86%的特异性。受试者工作特征（ROC）分析显示，该诊断测试的曲线下面积反映了 0.953 的准确性。
BHDS 具有与 PSP 不同的几个临床特征。我们的评分系统仅由五个易于评估的临床变量组成，可以在不依赖影像学研究的情况下，有效地将 BHDS 患者与 PTX 患者区分开来。需要进一步的前瞻性研究来证实我们的发现。
