Dal Sasso Aline Amaral, Belém Luciana Camara, Zanetti Gláucia, Souza Carolina Althoff, Escuissato Dante Luiz, Irion Klaus Loureiro, Guimarães Marcos Duarte, Marchiori Edson
Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.
The Ottawa Hospital, University of Ottawa, Ottawa, Ontario, Canada.
Respir Med. 2015 Mar;109(3):289-96. doi: 10.1016/j.rmed.2014.11.008. Epub 2014 Dec 9.
Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant disorder characterized by the development of cutaneous lesions, renal tumors, pulmonary cysts, and spontaneous pneumothorax. The gene responsible for BHDS is located on the short arm of chromosome 17 (17p11.2) and codes for the protein folliculin, which is believed to be an oncogene suppressor protein.
We reviewed currently published literature on the main characteristics of BHDS.
Pulmonary cysts and spontaneous pneumothorax are often the presenting manifestations that lead to a final diagnosis in family members affected by the syndrome.
Certain imaging characteristics of pulmonary cysts, including size and location, can suggest the diagnosis of BHDS based on chest computed tomography alone. The main concern in patients with BHDS is the increased risk of renal carcinoma. The aim of this review is to describe the main pathological, clinical, and imaging aspects of BHDS, ranging from its genetic basis to treatment, with emphasis on pulmonary involvement.
Birt-Hogg-Dubé综合征（BHDS）是一种罕见的常染色体显性遗传性疾病，其特征为皮肤病变、肾肿瘤、肺囊肿和自发性气胸的发生。导致BHDS的基因位于17号染色体短臂（17p11.2）上，编码卵泡抑素蛋白，该蛋白被认为是一种肿瘤抑制蛋白。
我们回顾了目前已发表的关于BHDS主要特征的文献。
肺囊肿和自发性气胸常常是导致该综合征受累家庭成员最终确诊的首发表现。
肺囊肿的某些影像学特征，包括大小和位置，仅凭胸部计算机断层扫描即可提示BHDS的诊断。BHDS患者的主要担忧是患肾癌风险增加。本综述的目的是描述BHDS从基因基础到治疗的主要病理、临床和影像学方面，重点是肺部受累情况。
