Koga Shunsuke, Furuya Mitsuko, Nakatani Yukio
Chiba University School of Medicine.
Nihon Rinsho. 2010 Feb;68(2):361-9.
Birt-Hogg-Dubé (BHD) syndrome is a rare disorder inherited in an autosomal dominant manner. The affected patients are predisposed to the development of cutaneous fibrofolliculomas, renal cell tumors and lung cysts with recurrent pneumothorax. The responsible gene for this syndrome is named BHD gene which is mapped in the region of chromosome 17p11.2. Based on the neoplastic changes in the skin and the kidney, BHD gene is regarded as a tumor-suppressor gene. However, detailed mechanism of tumorigenesis is not well understood. In this review, we summarize current understanding of BHD syndrome with special attention to the pathophysiology of lung cysts formation. Recent findings of the roles of BHD gene and its-encoding protein folliculin (FLCN) using rodent models are also discussed.
Birt-Hogg-Dubé（BHD）综合征是一种罕见的常染色体显性遗传疾病。患病患者易患皮肤纤维毛囊瘤、肾细胞肿瘤以及伴有复发性气胸的肺囊肿。该综合征的致病基因名为BHD基因，定位于17号染色体p11.2区域。基于皮肤和肾脏的肿瘤性改变，BHD基因被视为一种肿瘤抑制基因。然而，肿瘤发生的详细机制尚不清楚。在本综述中，我们总结了目前对BHD综合征的认识，特别关注肺囊肿形成的病理生理学。还讨论了使用啮齿动物模型对BHD基因及其编码蛋白卵泡抑素（FLCN）作用的最新研究发现。
