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伯-霍二氏综合征:罕见的家族性肺部疾病。

Birt Hogg Dube syndrome: Rare family lung disease.

作者信息

Şimşek Şaban Melih, Savaş Recep, Temiz Peyker, Çelik Pınar

机构信息

Department of Chest Diseases, Celal Bayar University Faculty of Medicine, Manisa, Turkey.

Department of Radiology, Ege University Faculty of Medicine, İzmir, Turkey.

出版信息

Tuberk Toraks. 2021 Mar;69(1):102-106. doi: 10.5578/tt.20219913.

Abstract

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.

摘要

Birt-Hogg-Dube综合征是一种罕见疾病,其特征为常染色体显性遗传的肺部多发囊肿、肾肿瘤和皮肤纤维毛囊瘤。1977年由Birt等人首次描述。在本病例报告中,介绍了一名有症状的确诊患者及其一级亲属。讨论了鉴别诊断中应考虑的疾病。该疾病通常在反复气胸后确诊。由于它是一种遗传性疾病,强调了对患者及其亲属进行随访和筛查的重要性。

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