Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study
Background Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphas...
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Taylor & Francis Group
2025-12-01
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| Series: | European Clinical Respiratory Journal |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/20018525.2024.2449271 |
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| author | Marie Moldt Holmager Sarah Wordenskjold Stougaard Ole Graumann Marianne Præstegaard Lilian Bomme Ousager Lars Lund Annette Schuster Casper Falster Jesper Rømhild Davidsen |
| author_facet | Marie Moldt Holmager Sarah Wordenskjold Stougaard Ole Graumann Marianne Præstegaard Lilian Bomme Ousager Lars Lund Annette Schuster Casper Falster Jesper Rømhild Davidsen |
| author_sort | Marie Moldt Holmager |
| collection | DOAJ |
| description | Background Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphasizing on trends in pulmonary function patterns.Methods By use of data from electronic patient journals, we conducted a retrospective cohort study on clinical characteristics and pulmonary function tests (PFT) from patients with BHD, who were clinically followed-up in a Danish tertiary referral center for rare and interstitial lung diseases.Results A total of 101 patients (44 men (43.6%); mean age 48.4 years (SD ± 15.9 years)) with BHD were included. Chest HRCT scans revealed pulmonary cysts in 82.2% of whom 38.6% had experienced at least one pneumothorax (median 2; IQR1–4). Baseline PFT showed FEV1/FVC ratio and RV% within normal values of predicted. In 28.7% of the patients, a slight decrease in DLco below 80% of predicted was observed (mean 86.9% ± SD 15.8%). At two years follow-up, there were no significant declines in FEV1 and FVC, nor after accounting for age, gender, and smoking. At baseline cutaneous manifestations were found in 58.4% of the patients, 47.5% had benign renal cysts, and 11.9% had renal tumours.Conclusion More than 80% of patients with BHD presented with pulmonary cysts, but consistent with other studies all had normal PFTs at two years follow-up. We conclude that routine monitoring of pulmonary function and pulmonary follow-up may not be necessary in patients with BHD. |
| format | Article |
| id | doaj-art-24dbdf05d0a747dbbd5057b28347a983 |
| institution | DOAJ |
| issn | 2001-8525 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | European Clinical Respiratory Journal |
| spelling | doaj-art-24dbdf05d0a747dbbd5057b28347a9832025-08-20T03:12:51ZengTaylor & Francis GroupEuropean Clinical Respiratory Journal2001-85252025-12-0112110.1080/20018525.2024.2449271Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort studyMarie Moldt Holmager0Sarah Wordenskjold Stougaard1Ole Graumann2Marianne Præstegaard3Lilian Bomme Ousager4Lars Lund5Annette Schuster6Casper Falster7Jesper Rømhild Davidsen8Department of Respiratory Medicine, Odense University Hospital, Odense, DenmarkRadiological Research and Innovation Unit (UNIFY), Department of Clinical Research, University of Southern Denmark, Odense, DenmarkRadiological Research and Innovation Unit (UNIFY), Department of Clinical Research, University of Southern Denmark, Odense, DenmarkCenter for Complex and Rare Diseases, Department of Clinical Genetics, Odense University Hospital, Odense, DenmarkCenter for Complex and Rare Diseases, Department of Clinical Genetics, Odense University Hospital, Odense, DenmarkDepartment of Clinical Research, University of Southern Denmark, Odense, DenmarkDepartment of Dermatology and Allergy Centre, Odense University Hospital, Odense, DenmarkDepartment of Respiratory Medicine, Odense University Hospital, Odense, DenmarkDepartment of Respiratory Medicine, Odense University Hospital, Odense, DenmarkBackground Birt-Hogg-Dubé syndrome (BHD), a rare genetic disease characterized by multiple pulmonary cysts, can lead to spontaneous pneumothorax, cutaneous hamartomas, renal cysts, and renal cell cancer. The overall aim of this study was to assess clinical characteristics of patients with BHD-emphasizing on trends in pulmonary function patterns.Methods By use of data from electronic patient journals, we conducted a retrospective cohort study on clinical characteristics and pulmonary function tests (PFT) from patients with BHD, who were clinically followed-up in a Danish tertiary referral center for rare and interstitial lung diseases.Results A total of 101 patients (44 men (43.6%); mean age 48.4 years (SD ± 15.9 years)) with BHD were included. Chest HRCT scans revealed pulmonary cysts in 82.2% of whom 38.6% had experienced at least one pneumothorax (median 2; IQR1–4). Baseline PFT showed FEV1/FVC ratio and RV% within normal values of predicted. In 28.7% of the patients, a slight decrease in DLco below 80% of predicted was observed (mean 86.9% ± SD 15.8%). At two years follow-up, there were no significant declines in FEV1 and FVC, nor after accounting for age, gender, and smoking. At baseline cutaneous manifestations were found in 58.4% of the patients, 47.5% had benign renal cysts, and 11.9% had renal tumours.Conclusion More than 80% of patients with BHD presented with pulmonary cysts, but consistent with other studies all had normal PFTs at two years follow-up. We conclude that routine monitoring of pulmonary function and pulmonary follow-up may not be necessary in patients with BHD.https://www.tandfonline.com/doi/10.1080/20018525.2024.2449271Birt-Hogg-Dubé syndromeorphan pulmonary diseasespulmonary function testdiffuse interstitial lung diseasecohort study |
| spellingShingle | Marie Moldt Holmager Sarah Wordenskjold Stougaard Ole Graumann Marianne Præstegaard Lilian Bomme Ousager Lars Lund Annette Schuster Casper Falster Jesper Rømhild Davidsen Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study European Clinical Respiratory Journal Birt-Hogg-Dubé syndrome orphan pulmonary diseases pulmonary function test diffuse interstitial lung disease cohort study |
| title | Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study |
| title_full | Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study |
| title_fullStr | Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study |
| title_full_unstemmed | Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study |
| title_short | Trends in pulmonary function in patients with Birt-Hogg-Dubé syndrome: a retrospective cohort study |
| title_sort | trends in pulmonary function in patients with birt hogg dube syndrome a retrospective cohort study |
| topic | Birt-Hogg-Dubé syndrome orphan pulmonary diseases pulmonary function test diffuse interstitial lung disease cohort study |
| url | https://www.tandfonline.com/doi/10.1080/20018525.2024.2449271 |
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