ArticleOrphanet journal of rare diseases2020
Lung function in Birt-Hogg-Dubé syndrome: a retrospective analysis of 96 patients.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 33 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
- Cerebral arterial oxygen embolism as a complication of hyperbaric oxygen treatment: a case report.Diving and hyperbaric medicine · 2026Article
- A Case of Birt-Hogg-Dubé Syndrome: A Rare but Essential Diagnosis to Consider.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2026Article
- Natural History of Rare Tumor Risk Syndromes: A Scoping Review to Inform Cost-Effectiveness Models.Journal of health economics and outcomes research · 2026Article
- First Description of Bilateral Lung Transplantation in Patient with Birt-Hogg-Dubé Syndrome: A Case Report and Surgical Feasibility Insight.Life (Basel, Switzerland) · 2025Article
- Evolution of cystic lung disease in Birt-Hogg-Dubé syndrome: assessment of older patients.BMJ open respiratory research · 2025Article
- Familial analysis: pulmonary Birt-Hogg-Dubé syndrome in two siblings.BMJ case reports · 2025Article
- Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study.European clinical respiratory journal · 2025Article
- Rare genetic interstitial lung diseases: a pictorial essay.European respiratory review : an official journal of the European Respiratory Society · 2024Review
- Phenotypes and outcome of diffuse pulmonary non-amyloid light chain deposition disease.Respiratory research · 2024Article
- Heterozygous germline FLCN mutation in Birt-Hogg-Dubé syndrome with bilateral renal hybrid oncocytic/chromophobe tumor and unilateral renal chromophobe cell carcinoma: a case report.Journal of cancer research and clinical oncology · 2023Article
- Progression of pulmonary cysts in Birt-Hogg-Dubé syndrome: longitudinal thoracic computed tomography study with quantitative assessment.BMC pulmonary medicine · 2023Article
- Risk of pneumothorax in Birt-Hogg-Dubé syndrome during pregnancy and birth.Frontiers in medicine · 2023Article
- Bibliometric Analysis of Birt-Hogg-Dubé Syndrome From 2001 to 2021.Frontiers in medicine · 2022Article
- Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2021Article
- Clinical Characteristics and Genetic Analysis of a Family With Birt-Hogg-Dubé Syndrome and Congenital Contractural Arachnodactyly.Frontiers in genetics · 2021Article
- Prevalence of Birt-Hogg-Dubé Syndrome Determined Through Epidemiological Data on Spontaneous Pneumothorax and Bayes Theorem.Frontiers in medicine · 2021Article
- Birt-Hogg-Dubé Syndrome presenting with chronic progressive dyspnea.Respiratory medicine case reports · 2021Article
- Birt-Hogg-Dubé syndrome.European respiratory review : an official journal of the European Respiratory Society · 2020Article
Corrections and comments
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Authors and funding
29 authors at 16 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBirt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant disorder caused by mutations in the FLCN gene coding for folliculin. Its clinical expression includes cutaneous fibrofolliculomas, renal tumors, multiple pulmonary cysts, and recurrent spontaneous pneumothoraces. Data on lung function in BHD are scarce and it is not known whether lung function declines over time. We retrospectively assessed lung function at baseline and during follow-up in 96 patients with BHD.
resultsNinety-five percent of BHD patients had multiple pulmonary cysts on computed tomography and 59% had experienced at least one pneumothorax. Mean values of forced expiratory volume in 1 second (FEV
conclusionsCystic lung disease in BHD does not affect respiratory function at baseline except for slightly increased RV and reduced DLco. No significant deterioration of lung function occurs in BHD over a follow-up period of 6 years.
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