Department of Clinical Genetics, VU University Medical Centre, Amsterdam, The Netherlands.
Lancet Oncol. 2009 Dec;10(12):1199-206. doi: 10.1016/S1470-2045(09)70188-3.
Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based diagnosis has allowed insight into the great variation in expression of FLCN, both within and between families. Patients can present with skin signs and also with pneumothorax or renal cancer. Preventive measures are aimed mainly at early diagnosis and treatment of renal cancer. This Review gives an overview of current diagnosis and management of BHD.
Birt-Hogg-Dubé 综合征（BHD）是一种常染色体显性遗传疾病，临床上表现为皮肤纤维毛囊瘤、肺囊肿、自发性气胸和肾癌。该疾病由 FLCN 基因突变引起，该基因编码滤泡素；这种蛋白质的功能在很大程度上是未知的，尽管 FLCN 与 mTOR 途径有关。基于 DNA 的诊断方法的出现使人们能够深入了解 FLCN 在个体内和个体间表达的巨大差异。患者可能表现为皮肤征象，也可能表现为气胸或肾癌。预防措施主要针对肾癌的早期诊断和治疗。本文综述了 BHD 的当前诊断和治疗方法。
