A Case of Birt-Hogg-Dubé Syndrome with Renal Hybrid Oncocytic/Chromophobe Tumors

Birt-Hogg-Dubé(BHD)syndrome is a rare autosomal dominant genetic disease that results from the mutation of folliculin gene and commonly affects lungs, kidneys, and skin. In China, only a few families affected by this syndrome were reported. Pulmonary cysts and pneumothorax are common clinical manifestations of this disease, while skin lesions and kidney tumors are relatively rare. Here we reported a case of BHD syndrome with renal hybrid oncocytic/chromophobe tumors, analyzed its clinical features, laboratory examinations, family history, diagnostic methods, and treatment, and reviewed the relevant literature. Clinical attention should be paid to the diagnosis of BHD syndrome. The treatment principle for patients with renal tumors is early detection and to carry out nephron sparing surgery.