ReviewOrphanet journal of rare diseases2021
Birt-Hogg-Dubé syndrome in Chinese patients: a literature review of 120 families.
Review in Orphanet journal of rare diseases, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- 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
- Evolution of cystic lung disease in Birt-Hogg-Dubé syndrome: assessment of older patients.BMJ open respiratory research · 2025Article
- Differential Diagnosis and a Novel Mutation in Birt-Hogg-Dubé Syndrome: Insights from 2 Cases.The American journal of case reports · 2025Article
- Prevalence and recurrence rates of spontaneous pneumothorax in patients with diffuse cystic lung diseases in China.Orphanet journal of rare diseases · 2025Article
- Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.Orphanet journal of rare diseases · 2024Article
- A novel variant in the FLCN gene in a Chinese family with Birt-Hogg-Dubé syndrome.Molecular genetics & genomic medicine · 2024Article
- Familial pulmonary cysts: A clue to diagnose Birt-Hogg-Dubé syndrome: A case report and literature review.Respirology case reports · 2024Article
- Coexistent Sjogren's syndrome and Birt-Hogg-Dube´ syndrome: a case report.BMC pulmonary medicine · 2023Review
- Renal Cell Tumor and Cystic Lung Disease: A Genetic Link for Generalists to Be Aware of.Cureus · 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
- Review
- Birt-Hogg-Dubé syndrome with c.1579_1580insA variant in a Chinese family: a case report.Frontiers in medicine · 2023Article
- Clinical and Genetic Comparison of Birt-Hogg-Dubé Syndrome (Hornstein-Knickenberg Syndrome) in Chinese: A Systemic Review of Reported Cases.International journal of general medicine · 2022Review
- Epidemiology and clinical features of Birt-Hogg-Dubé syndrome: A nationwide population-based study in South Korea.PloS one · 2022Article
- Spontaneous pneumothorax-associated with genetic disorders.Therapeutic advances in respiratory diseaseReview
- NovelTherapeutic advances in respiratory diseaseArticle
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo clarify the epidemiological and clinical features of Birt-Hogg-Dubé syndrome (BHDS) in Chinese patients.
methodsWe identified reports on Chinese patients with BHDS by searching the China Academic Journals Database, Wanfang Chinese Database, and PubMed databases, either in Chinese or English languages published from January 1, 2008 to December 31, 2020. Studies without sufficient clinical data were excluded and cases under 18 years old were excluded.
resultsTwenty papers were included and comprised 120 families with 221 cases. Most families with BHDS were reported from institutions in Beijing (66.7%) and Jiangsu Province (15.8%); 80.8% of cases were reported within the past five years. The average duration from clinical presentation to diagnosis was 9.6 years. The average age was 47.0 ± 13.9 years (range, 18-84 years) and the ratio of male to female was 1:1.6. The most common manifestations of BHDS were multiple pulmonary cysts (92.4%), spontaneous pneumothorax (71.0%), skin lesions (18.1%) and renal tumors (3.6%). Pulmonary cysts were predominantly distributed in the lower lobe on chest CT imaging. Family history of spontaneous pneumothorax was identified in 84.7% of the families and average number of pneumothoraxes was 1.8 (range, 1-6). The FLCN gene mutation c.1285dupC/delC in exon 11 was the most frequent mutation observed (17.4% of patients). The recurrence rate of pneumothorax after conservative treatment (including tube thoracostomy) was 29/41 (71%) while the pneumothorax recurred after surgical treatment (pulmonary bullectomy or pleurodesis) in only 4/37 (11%).
conclusionsAlthough BHDS has been increasingly reported in the recent years, only minority of families were reported from institutions outside of Beijing and Jiangsu Province. The dominant clinical manifestations were pulmonary cysts associated with recurrent pneumothorax, while skin lesions and renal tumors were less commonly reported. Delayed diagnosis along with suboptimal management appear to represent critical challenges for Chinese patients with BHDS.
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