Birt hogg dube syndrome: Rare family lung disease; [Birt hogg dube sendromu: Nadir görülen ailesel akciğer hastalığı]
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Date
2021
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Abstract
Birt Hogg Dube syndrome is a rare disease characterized by autosomal dominant inherited multiple cysts in the lungs, renal tumors and skin fibrofollicu-lomas. 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. © 2021 by Tuberculosis and Thorax.
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Adult , Birt-Hogg-Dube Syndrome , Diagnosis, Differential , Humans , Male , Rare Diseases , abnormal respiratory sound , adult , Article , autosomal dominant inheritance , Birt Hogg Dube syndrome , case report , clinical article , computer assisted tomography , differential diagnosis , echography , female , gene mutation , genetic disorder , human , lobectomy , lung adenocarcinoma , lung cyst , lung embolism , male , pneumothorax , rare disease , thoracostomy , thorax radiography , Birt Hogg Dube syndrome , complication , genetics , rare disease