Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region
In 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.
Authors
- Xianmeng Chen (ORCID: https://orcid.org/0000-0003-1441-3634)
- Xiaowen Hu (ORCID: https://orcid.org/0000-0002-3727-6049)
- Jay Hoon Ryu (ORCID: https://orcid.org/0000-0002-9576-2272)
- Xianliang Jiang
- Jun Xiao (ORCID: https://orcid.org/0000-0003-4591-9320)
- Jinli Liu
- Daiju Hu
- Rui Wang (ORCID: https://orcid.org/0009-0009-3413-940X)
Institutions
- Wannan Medical College (CN)
- University of Science and Technology of China (CN)
- Mayo Clinic (US)
- Hefei University (CN)
- Institut des Hautes Études de Management (MA)
- Pulmonary and Critical Care Associates (US)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2024-09-19
- DOI
- https://doi.org/10.1186/s13023-024-03360-1
- Citations
- 4
- Primary Topic
- Renal cell carcinoma treatment
- Type
- article
- Field-Weighted Citation Impact
- 1.68
Funders
- Anhui Province Key Laboratory of Medical Physics and Technology
- Anhui Provincial Key Research and Development Plan