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Familial spontaneous pneumothorax: importance of screening for Birt-Hogg-Dubé syndrome.

家族性自发性气胸: 筛查 Birt-Hogg-dub é 综合征的重要性。

  • 影响因子:2.26
  • DOI:10.1093/ejcts/ezz171
  • 作者列表:"Liu Y","Xing H","Huang Y","Meng S","Wang J
  • 发表时间:2020-01-01
Abstract

OBJECTIVES:The goal of this study was to investigate the prevalence of Birt-Hogg-Dubé (BHD) syndrome in patients with familial spontaneous pneumothorax (FSP) and the clinical characteristics of pneumothorax related to BHD syndrome compared with those of primary spontaneous pneumothorax. METHODS:A total of 37 families diagnosed with FSP from 2007 to 2017 were enrolled in this study. The FLCN gene, which is responsible for BHD syndrome, was sequenced using the Sanger method in 25 probands. For the patients with confirmed BHD syndrome-related pneumothorax, clinical characteristics including the median onset age of pneumothorax, the male-to-female ratio, the mean height and body mass index (BMI) and the recurrence rate after different treatment modalities were obtained and compared with those of patients with primary spontaneous pneumothorax. RESULTS:Of the 25 probands with FSP, 16 [64.0%, 95% confidence interval (CI) 43.8-84.2%] harboured FLCN germline mutations. In the patients with BHD syndrome-related pneumothorax, the median onset age of pneumothorax was 34 years; the male-to-female ratio was 1.3:1; and the mean height and BMI were 167.0 ± 8.6 cm and 23.6 ± 3.4 kg/m2, respectively. These characteristics were significantly different from those in patients with primary spontaneous pneumothorax from the same centre. The recurrence rate of BHD syndrome-related pneumothorax after conservative therapy was 53.1% (95% CI 38.6-67.5%) compared with 9.1% (95% CI 0-19.4%) after surgical treatment. CONCLUSIONS:BHD syndrome is one of the most common causes of FSP. Patients with FSP should be recommended for mutation screening for the FLCN gene to facilitate early diagnosis and proper intervention.

摘要

目的: 本研究的目的是调查家族性自发性气胸 (FSP) 患者中 Birt-Hogg-dub é (BHD) 综合征的患病率。并与原发性自发性气胸的临床特征进行比较。 方法: 共 37 个被诊断为 FSP 的家庭 (2007年至 2017年) 入组本研究。使用 Sanger 方法对 25 例先证者进行了负责 BHD 综合征的 FLCN 基因测序。对于确诊的 BHD 综合征相关性气胸患者,临床特征包括气胸的中位发病年龄、男女比例、平均身高和体重指数 (BMI) 获得不同治疗方式后的复发率,并与原发性自发性气胸患者进行比较。 结果: 25 例 FSP 先证者中,16 例 [64.0%,95% 置信区间 (CI) 43.8-84.2%] 存在 FLCN 种系突变。在 BHD 综合征相关性气胸患者中,气胸的中位发病年龄为 34 岁,男女之比为 1.3: 1; 平均身高和 BMI 分别为 167.0 ± 8.6 cm 和 23.6 ± 3.4 kg/m2。这些特征与来自同一中心的原发性自发性气胸患者明显不同。经保守治疗后 BHD 综合征相关性气胸的复发率为 53.1% (95% CI 38.6-67.5%),而手术治疗后为 9.1% (95% CI 0-19.4%)。 结论: BHD 综合征是 FSP 最常见的病因之一。应推荐 FSP 患者进行 FLCN 基因突变筛查,以利于早期诊断和正确干预。

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