Birt Hogg Dube syndrome: Rare family lung disease
| Autor: | Recep Savaş, Peyker Temiz, Saban Melih Simsek, Pinar Celik |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male Pulmonary and Respiratory Medicine medicine.medical_specialty renal tumors Disease Kidney Critical Care and Intensive Care Medicine Birt–Hogg–Dubé syndrome Birt-Hogg-Dube Syndrome Diagnosis Differential Rare Diseases Spectrum medicine Humans Recurrent pneumothorax First-degree relatives Cysts business.industry Pneumothorax Birt Hogg Dube syndrome medicine.disease Dermatology Multiple cysts Lung disease cystic lung diseases Surgery Differential diagnosis business Mutations Rare disease |
| Zdroj: | Tuberk Toraks. 69:102-106 |
| ISSN: | 0494-1373 |
| DOI: | 10.5578/tt.20219913 |
| Popis: | Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofolliculomas. It was first described in 1977 by Birt et al. In this case report, a patient who was diagnosed with symptoms and his first degree relative is presented. Diseases that should be considered in differential diagnosis are discussed. The diagnosis of this disease is usually made after recurrent pneumothorax. Since it is a genetic disease, the importance of follow-up and screening needs of patients and their relatives is emphasized. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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