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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
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Birt-Hogg-Dubé syndrome
Cécile Daccord1, Jean-Marc Good2, Marie-Anne Morren3
1Respiratory Medicine Dept, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland.
Summary
Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder causing lung cysts and kidney tumors. Early diagnosis and management of pneumothorax are key for patients with this inherited condition.
Area of Science:
- Genetics
- Pulmonology
- Nephrology
Background:
- Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder.
- Caused by germline mutations in the FLCN gene, encoding folliculin.
- Characterized by pulmonary cysts, pneumothoraces, skin fibrofolliculomas, and renal tumors.
Purpose of the Study:
- To summarize the key clinical features, diagnosis, and management of BHD.
- To differentiate BHD from other cystic lung diseases.
- To highlight the importance of family history in diagnosing BHD.
Main Methods:
- Review of clinical and genetic data of BHD patients.
- Chest CT scans for pulmonary cyst identification.
- Renal imaging for tumor surveillance.
- Genetic testing for FLCN mutations.
Main Results:
- Pulmonary cysts affect over 80% of patients; pneumothorax occurs in over 50%.
- Renal tumors affect approximately 30% of patients and can be multiple.
- BHD lung disease does not typically lead to progressive lung function loss.
Conclusions:
- BHD diagnosis relies on genetic, clinical, and histopathological criteria.
- Management includes pleurodesis for pneumothorax and renal imaging for tumors.
- Screening of relatives is crucial for early detection and management.
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