Birt-Hogg-Dubé syndrome:from patient to protein

Patients suffering from a rare genetic disease called Birt-Hogg-Dubé (BHD) syndrome are at increased risk of developing benign facial papules (fibrofolliculomas), lung cysts, pneumothorax and kidney cancer. In the clinic, we focus on the early detection of kidney cancer by making a kidney scan. This approach enables us to treat kidney cancer at an early stage. However, only few patients are actually undergoing this test. In this dissertation, we offer suggestions on how to increase patient participation. We have also tested a potential treatment for fibrofolliculomas. Unfortunately, this was shown not to be effective. The BHD syndrome is caused by an alteration in the FLCN gene, the function of which remains unknown. We have shown that the protein is located in the cilium, the cellular antenna. This may explain the formation of cysts and perhaps also the formation of tumours. Further research into the function of FLCN is needed to develop a targeted (preventive) treatment for patients with BHD syndrome