ReviewJournal of clinical pathology2013
Birt-Hogg-Dube syndrome: clinicopathological features of the lung.
Review in Journal of clinical pathology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02916992 (Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With), which is not on this map. Cited by 43 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Prevalence of Birt-Hogg-Dubé Syndrome Among Patients With (Hereditary) Spontaneous Pneumothorax
Who cites it
43 citing papers in PubMed, 2 syntheses or guidelines pooled it, 96 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
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Substrate-selective mTORC1 regulation and gene dosage-dependent tissue divergence in Birt-Hogg-Dubé syndrome.Frontiers in oncology · 2026Review
- Pulmonary cysts as a diagnostic indicator of Birt-Hogg-Dubé syndrome in patients with renal neoplasm.Insights into imaging · 2025Article
- Birt-Hogg-Dubé syndrome presenting as recurrent secondary spontaneous pneumothorax: VATS.Indian journal of thoracic and cardiovascular surgery · 2025Article
- Birt-Hogg-Dubé syndrome - a rare genetic disorder complicated by pneumothorax: A case report.World journal of clinical cases · 2025Article
- A familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: a case report and literature review.Frontiers in medicine · 2025Article
- Clinical and genetic investigations of five Chinese families with Birt-Hogg-Dubé syndrome: a long-term follow-up study.Frontiers in medicine · 2025Article
- Action and therapeutic targets of folliculin interacting protein 1: a novel signaling mechanism in redox regulation.Frontiers in cell and developmental biology · 2025Review
- Progression of pulmonary cysts in Birt-Hogg-Dubé syndrome: longitudinal thoracic computed tomography study with quantitative assessment.BMC pulmonary medicine · 2023Article
- Characteristic Chest Computed Tomography Findings for Birt-Hogg-Dube Syndrome Indicating Requirement for Genetic Evaluation.Diagnostics (Basel, Switzerland) · 2023Article
- Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.Orphanet journal of rare diseases · 2022Article
- Comment on Balsamo et al.: "Birt-Hogg-Dubé syndrome with simultaneous hyperplastic polyposis of the gastrointestinal tract: case report and review of the literature".BMC medical genomics · 2022Review
- Correlative analysis of lung CT findings in patients with Birt-Hogg-Dubé Syndrome and the occurrence of spontaneous pneumothorax: a preliminary study.BMC medical imaging · 2022Article
- Birt-Hogg-Dubé Syndrome with Renal Cancer Treated as Multiple Metastases of Cancer of Unknown Primary.Internal medicine (Tokyo, Japan) · 2021Article
- Novel folliculin gene mutations in Polish patients with Birt-Hogg-Dubé syndrome.Orphanet journal of rare diseases · 2021Article
- Pleural changes in patients with pneumothoraces and Marfan syndrome.Journal of thoracic disease · 2020Article
- Secondary pneumothorax associated with Birt-Hogg-Dubé syndrome: a case report.Radiology case reports · 2020Article
- Appendiceal diverticulosis in a patient with family history of Birt-Hogg-Dubé syndrome--a case report.Radiology case reports · 2020Article
- Characterization of CT scans of patients with Birt-Hogg-Dubé syndrome compared with those of Chinese patients with non-BHD diffuse cyst lung diseases.Orphanet journal of rare diseases · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome. This disorder is caused by mutations in the gene coding for folliculin (FLCN). FLCN forms a complex with FLCN-interacting protein 1 (FNIP1) and FNIP2 (also known as FNIPL), and the complex cross-talks with signalling molecules such as 5'-AMP-activated protein kinase (AMPK) and the mammalian target of rapamycin (mTOR). Heterozygous Flcn knockout mice and rats with Flcn gene mutations develop renal cysts, adenomas and/or carcinomas. These findings suggest that FLCN functions as a tumour suppressor that inhibits renal carcinogenesis. However, the mechanisms of the formation of pulmonary cysts and pneumothorax associated with heterozygous mutations in FLCN are poorly understood. Resected lung specimens from patients with BHD are often misdiagnosed by pathologists as non-specific blebs or bullae or emphysema, and patients with BHD who have pulmonary cysts and repeated pneumothorax frequently do not receive appropriate medical investigations. This review discusses the clinical and pathological features of lungs of patients with BHD, focusing on the diagnostic pathology and possible mechanisms of cyst formation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.