ArticleBMC medical imaging2022
Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.
Article in BMC medical imaging, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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13 citing papers in PubMed, 2 syntheses or guidelines pooled it, 22 citations in OpenAlex.
- The prevalence of spontaneous pneumothorax in patients with BHD syndrome: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- ERN GENTURIS clinical practice guidelines for the diagnosis, surveillance and management of people with Birt-Hogg-Dubé syndrome.European journal of human genetics : EJHG · 2024Guideline
- A novel pathogenic variant in folliculin identified in a Chinese family with BHD syndrome.BMC medical genomics · 2026Article
- First published report of the FLCN c.1222 C > T (p.Gln408Ter) variant in a Chinese family with Birt-Hogg-Dubé syndrome and literature review.BMC medical genomics · 2026Review
- First Description of Bilateral Lung Transplantation in Patient with Birt-Hogg-Dubé Syndrome: A Case Report and Surgical Feasibility Insight.Life (Basel, Switzerland) · 2025Article
- Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China.Orphanet journal of rare diseases · 2025Article
- CT features associated with contralateral recurrence of spontaneous pneumothorax.QJM : monthly journal of the Association of Physicians · 2024Article
- Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.Orphanet journal of rare diseases · 2024Article
- Folliculin gene-negative Birt-Hogg-Dube syndrome: a case report.Annals of medicine and surgery (2012) · 2024Article
- Progression of pulmonary cysts in Birt-Hogg-Dubé syndrome: longitudinal thoracic computed tomography study with quantitative assessment.BMC pulmonary medicine · 2023Article
- Exons 1-3 deletion in FLCN is associated with increased risk of pneumothorax in Chinese patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2023Article
- Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report.Frontiers in medicine · 2023Article
- Spontaneous pneumothorax-associated with genetic disorders.Therapeutic advances in respiratory diseaseReview
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe diagnosis of patients with Birt-Hogg-Dubé (BHD) syndrome is always delayed (even for more than 10 years). Improving the understanding and diagnosis of this disease is vital for clinicians and radiologists. In this study we presented the chest computed tomography (CT) findings of BHD syndrome and offered suggestions for BHD cases with spontaneous pneumothorax.
methodsTwenty-six BHD patients from 11 families (10 men, 16 women; mean age: 46 ± 12 years, 20-68 years) were included. The clinical features of the patients included pneumothorax, renal lesions, and skin lesions. Twenty-three patients underwent chest CT imaging. The cyst condition of each patient derived from reconstructed chest CT imaging was recorded, including the cyst number, size, volume, pattern, and distribution.
resultsPneumothorax occurred in 54% (14/26) of patients. Among them, 43% (6/14) had pneumothorax more than twice. However, typical skin and renal lesions were absent. Four patients had renal hamartoma. CT showed that 23 (100%) patients had lung cysts. Pulmonary cysts were bilateral and multiple, round, irregular, or willow-like. And 93.6% of the large cysts (long-axis diameter ≥ 20 mm) were under the pleura, and near the mediastinum and spine. The long-axis diameter, short-axis diameter and volume of the largest cysts were associated with the occurrence of pneumothorax (all P < 0.05).
conclusionsChest CT imaging can reveal some characteristic features of BHD syndrome. The occurrence of pneumothorax in BHD patients is closely related to their pulmonary cystic lesions.
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