Křepelová A, Puchmajerová A, Vasovčák P, Chocholatý M
Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha.
Klin Onkol. 2012;25 Suppl:S18-20.
Birt-Hogg-Dubé syndrome (BHDS, MIM 135150) is an autosomal dominant condition characterized by presence of skin fibrofolliculomas, lung cysts, spontaneous pneumothorax and renal cancer. The disease is caused by germ-line mutations of the FLCN gene, which encodes protein folliculin. BHDS is a rare condition with high penetrance and variable expression. Clinical recommendations include increased care during general anesthesia due to a higher risk of pneumothorax, and long-term follow-up due to an elevated risk of renal cancer. Diagnostic and predictive DNA tests are available; prenatal and preimplantation diagnosis is possible.
Birt-Hogg-Dubé综合征（BHDS，MIM 135150）是一种常染色体显性遗传病，其特征为存在皮肤纤维毛囊瘤、肺囊肿、自发性气胸和肾癌。该疾病由编码卵泡抑素蛋白的FLCN基因的种系突变引起。BHDS是一种罕见病，具有高外显率和可变表达。临床建议包括，由于气胸风险较高，全身麻醉期间需加强护理；由于肾癌风险升高，需进行长期随访。有诊断性和预测性DNA检测方法；可进行产前和植入前诊断。
