Case report. Birt-Hogg-Dubé – wat moet de uroloog ermee?

Birt-Hogg-Dubé syndrome is a rare autosomal dominant hereditary disorder caused by a genetic mutation in the folliculin (FLCN) gene, characterized by benign fibrofolliculomas, increased risk of kidney tumors, lung cysts, and spontaneous pneumothorax. Genetic counseling for a mutation in the FLCN gene is recommended if specific criteria are met. Family members are eligible for genetic testing starting at age 20. For these patients, prevention of pneumothorax is crucial by avoiding deep-sea diving and smoking. Imaging of the kidneys is recommended due to the increased risk of renal cell carcinoma. An MRI scan should be performed at initial presentation, followed by annual monitoring through ultrasound. If kidney surgery is recommended, kidney-sparing surgery is preferred over radical nephrectomy due to the high risk of (contralateral) recurrence.