Birt-Hogg-Dube syndrome: diagnosis and management

作者：Menko Fred H^*; van Steensel Maurice A M; Giraud Sophie; Friis Hansen Lennart; Richard Stephane; Ungari Silvana; Nordenskjold Magnus; Hansen Thomas v O; Solly John; Maher Eamonn R

来源：Lancet Oncology, 2009, 10(12): 1199-1206.

DOI：10.1016/s1470-2045(09)70188-3

Birt-Hogg-Dube 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.

• 出版日期2009-12