Zhang Yanan, Wang Yuling, Wang Jinxia, Li Ping, Lv Ruonan, Chen Juan
Department of Respiratory and Critical Care Medicine, General Hospital of Ningxia Medical University, Yinchuan, 750004, Ningxia, China.
Ningxia Medical University, Ningxia, 750004, China.
Orphanet J Rare Dis. 2025 May 7;20(1):218. doi: 10.1186/s13023-025-03726-z.
Birt-Hogg-Dubé (BHD) syndrome is associated with an increased risk of pneumothorax. This study aimed to determine the prevalence of spontaneous pneumothorax among individuals diagnosed with BHD syndrome.
A comprehensive literature search was conducted across PubMed, EMBASE, Cochrane Controlled Register of Trials (CENTRAL), and Web of Science databases up to March 10, 2024. Studies reporting on the prevalence of spontaneous pneumothorax in BHD syndrome patients were included. Eligibility assessment, data extraction, and quality assessment were performed independently by two reviewers. Random-effects or fixed-effect models were conducted to calculate pooled incidence rates, and subgroup analyses were performed to explore sources of heterogeneity. The publication bias was assessed by funnel plot and Egger's test.
Eighteen studies, conducted between 2009 and 2023, were included in the systematic review. The meta-analysis revealed a pooled incidence rate of spontaneous pneumothorax in BHD syndrome patients at 0.61 (95% CI 0.46; 0.76). Subgroup analyses based on region, study design, and diagnostic methods further elucidated variations in incidence rates among different patient groups. Specifically, the Asian subgroup demonstrated a higher pooled incidence rate of 0.71 (95% CI 0.60; 0.81), while the Caucasian subgroup showed a lower pooled incidence rate of 0.43 (95% CI 0.26; 0.60). The subgroup analysis by study design revealed a pooled incidence rate of 0.60 (95% CI 0.45; 0.76) for retrospective studies and 0.70 (95% CI 0.42; 0.98) for the sole prospective study. Additionally, the subgroup analysis by diagnostic methods showed pooled incidence rates of 0.64 (95% CI 0.48; 0.81) for studies using FLCN mutation testing and 0.51 (95% CI 0.33; 0.70) for those using clinical criteria and imaging findings. Potential publication bias was identified by Egger's test (P < 0.05).
The study indicated a pooled prevalence rate of 61% for pneumothorax in BHD syndrome patients, with subgroup analyses revealing higher rates among Asian individuals and in prospective studies. Further researches, particularly large-sample prospective studies, are needed to address publication bias and improve the reliability of prevalence estimates.
CRD42024567520.
Birt-Hogg-Dubé（BHD）综合征与气胸风险增加相关。本研究旨在确定被诊断为BHD综合征的个体中自发性气胸的患病率。
截至2024年3月10日，在PubMed、EMBASE、Cochrane对照试验注册中心（CENTRAL）和Web of Science数据库中进行了全面的文献检索。纳入报告BHD综合征患者自发性气胸患病率的研究。由两名 reviewers 独立进行资格评估、数据提取和质量评估。采用随机效应或固定效应模型计算合并发病率，并进行亚组分析以探讨异质性来源。通过漏斗图和Egger检验评估发表偏倚。
系统评价纳入了2009年至2023年间进行的18项研究。荟萃分析显示，BHD综合征患者自发性气胸的合并发病率为0.61（95%CI 0.46；0.76）。基于地区、研究设计和诊断方法的亚组分析进一步阐明了不同患者组发病率的差异。具体而言，亚洲亚组的合并发病率较高，为0.71（95%CI 0.60；0.81），而白种人亚组的合并发病率较低，为0.43（95%CI 0.26；0.60）。按研究设计进行的亚组分析显示，回顾性研究的合并发病率为0.60（95%CI 0.45；0.76），唯一的前瞻性研究的合并发病率为0.70（95%CI 0.42；0.98）。此外，按诊断方法进行的亚组分析显示，使用FLCN突变检测的研究的合并发病率为0.64（95%CI 0.48；0.81），使用临床标准和影像学检查结果的研究的合并发病率为0.51（95%CI 0.33；0.70）。Egger检验发现存在潜在的发表偏倚（P < 0.05）。
该研究表明，BHD综合征患者气胸的合并患病率为61%，亚组分析显示亚洲个体和前瞻性研究中的患病率较高。需要进一步的研究，特别是大样本前瞻性研究，以解决发表偏倚问题并提高患病率估计的可靠性。
国际前瞻性系统评价注册库（PROSPERO）注册号：CRD42024567520。
