Birt–Hogg–Dubé syndrome. Сase report

Abstract

Birt–Hogg–Dubé syndrome (BHDS) is a rare autosomal dominant disorder caused by pathogenic mutations in the FLCN tumor suppressor gene. The classical triad includes cutaneous fibrofolliculomas, spontaneous pneumothorax, and multiple renal tumors. However, the disease exhibits variable expressivity; renal manifestations may be the first and only symptom in young patients, leading to diagnostic difficulties and risk of suboptimal treatment. In cases of isolated renal involvement, BHDS diagnosis is often delayed. Reports in the Russian literature remain scarce. Aim. To present a clinical case of BHDS in a 35-year-old female patient presenting with bilateral multifocal renal tumors (oncocytoma and chromophobe renal cell carcinoma) and multiple pulmonary cysts, successfully managed with staged bilateral laparoscopic partial nephrectomy. This case illustrates a modern diagnostic algorithm, underlines the importance of multidisciplinary approach (radiology, morphology, genetics) and justifies the necessity of including BHDS in differential diagnosis of renal neoplasms in young patients.