Recent research has highlighted the value of imaging in the diagnosis of BHD. A new case study from Bakan et al., (2015) reiterates this message in the imaging journal Diagnostic and Interventional Imaging.
Bakan et al. reported on a 51 year old male who presented with left flank pain and following an MRI was found to have multiple masses on both kidneys. A CT to assist with staging these masses incidentally found multiple, irregularly-shaped pulmonary cysts in the lower parts of both lungs. Further suggestion of BHD came with classification of the masses as hybrid chromophobe RCC and oncocytomas, a maternal family history of spontaneous pneumothorax, and a small number of facial papules.
Bakan et al. also stress the need for a genetic test for FLCN mutations in suspected-BHD patients both with regards to patient treatment and the ability to screen other family members. However, no details of genetic tests in this patient are reported. Early diagnosis of BHD in currently asymptomatic family members increases the likelihood that renal tumours can be detected and treated earlier.