ArticleOrphanet journal of rare diseases2024
Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.
Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- An Underrecognized Cause of Recurrent Spontaneous Pneumothorax: Birt-Hogg-Dubé Syndrome With Isolated Pulmonary Manifestation.Respirology case reports · 2026Article
- Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome: A Single-Centre Retrospective Case Series of Seven Genetically Confirmed Patients.Journal of clinical medicine · 2026Article
- Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.International journal of molecular sciences · 2026Article
- Substrate-selective mTORC1 regulation and gene dosage-dependent tissue divergence in Birt-Hogg-Dubé syndrome.Frontiers in oncology · 2026Review
- Natural History of Rare Tumor Risk Syndromes: A Scoping Review to Inform Cost-Effectiveness Models.Journal of health economics and outcomes research · 2026Article
- Comprehensive exome profiling identifiesTheranostics · 2025Article
- A familial case of Birt-Hogg-Dubé syndrome complicated with lung cancer: a case report and literature review.Frontiers in medicine · 2025Article
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Abstract
backgroundAlthough an increasing number of patients with Birt-Hogg-Dubé syndrome (BHD) are being recognized in China, clinical and genetic characteristics are not well-defined. In addition, revised diagnostic criteria for the Chinese population was proposed in 2023, we aimed to explore their utility in clinical practice at a rare lung disease center.
methodsWe retrospectively analyzed the data of 100 consecutive patients with BHD diagnosed according to the revised Chinese BHD criteria, encountered at the First Affiliated Hospital of University of Science and Technology of China from Jan 2017 to June 2023.
resultsThere were 100 patients (including 63 females) from 65 unrelated families in Eastern China, mostly Anhui Province. The common manifestations were pulmonary cysts (99%), pneumothorax (60%), and skin lesions (77%). Renal cancer and renal angiomyolipoma were detected in 5 patients each. 37% of patients had no family history of BHD. In total, 25 FLCN germline mutations were detected, including 6 novel mutations. In addition to hotspot mutation c.1285delC/dupC (17%), the most common mutations were c.1015 C > T (16%), c.1579_1580insA (14%), and exons 1-3 deletion (11%) in FLCN. Higher risk of pneumothorax was associated with exons 1-3 deletion mutation and c.1177-5_1177-3de1CTC compared to the hotspot mutation c.1285dupC (91% [95% CI: 0.31, 46.82, p = 0.015] and 67% [95% CI: 0.35, 71.9, p = 0.302] vs. 30%, respectively). The average delay in diagnosis was 7.6 years after initial symptoms. Chinese diagnostic criteria were mostly consistent with typical pulmonary presentations with supportive genetic evidence.
conclusionIn the Eastern Chinese region, patients with BHD present most commonly with pulmonary cysts associated with pneumothorax and skin lesions. However, low incidence of renal cancer along with unexpected renal angiomyolipoma was observed. Genotypic spectrum differed from that reported from other global regions, and genotype association of pneumothorax warrants further research. The revised Chinese criteria for BHD seem more appropriate in diagnosing BHD in Chinese patients.
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