Opoka Lucyna, Wakulinski Jacek, Winek Jolanta, Bestry Iwona, Błasinska Katarzyna, Radzikowska Elżbieta
Department of Radiology, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.
Outpatient Department, National Tuberculosis and Lung Diseases Research Institute, Warsaw, Poland.
Pol J Radiol. 2019 Oct 28;84:e424-e429. doi: 10.5114/pjr.2019.89964. eCollection 2019.
Birt-Hogg-Dubé syndrome (BHDS) is a rare, genetic, autosomal dominant disease caused by mutation in a folliculin gene. This syndrome is characterised by three main symptoms: benign lesions originating from hair follicles, variously shaped cysts in the lungs, and various types of benign and malignant kidney neoplasms. In our article we are going to present cases of two sisters with BHDS. In the case of the first sister skin lesions were accompanied by lung abnormalities. The second sister, however, presented with recurrent pneumothoraces associated with variously shaped lung cysts located mainly below the tracheal carina. In both instance diagnosis was confirmed by genetic test.
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的遗传性常染色体显性疾病，由卵泡抑素基因突变引起。该综合征有三个主要症状：源自毛囊的良性病变、肺部各种形状的囊肿以及各种类型的良性和恶性肾肿瘤。在我们的文章中，我们将介绍两名患有BHDS的姐妹的病例。在第一个姐妹的病例中，皮肤病变伴有肺部异常。然而，第二个姐妹表现为反复气胸，伴有主要位于气管隆突下方的各种形状的肺囊肿。在这两个病例中，基因检测均确诊了病情。
