The Case: Bilateral Kidney Tumors and Lung Cysts
January 2013
in “
Kidney international
”
Birt–Hogg–Dubé syndrome BHD FLCN gene skin fibrofolliculomas pulmonary cysts spontaneous pneumothorax renal cancers renal cell carcinoma chromophobe renal cell cancer oncocytoma nephrectomies MRI FLCN kidney tumors lung cysts skin tumors kidney cancer chromophobe RCC kidney removal magnetic resonance imaging
Studysummary This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
A 38-year-old man was diagnosed with Birt–Hogg–Dubé syndrome (BHD) after presenting with multiple bilateral kidney tumors and lung cysts. Genetic testing confirmed a heterozygous variant in the FLCN gene. BHD is an autosomal dominant condition characterized by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancers, with renal cell carcinoma being a significant complication. The patient underwent nephrectomies, and histological evaluations revealed hybrid tumors with features of chromophobe renal cell cancer and oncocytoma. Despite substantial renal tissue resection, his renal function remained adequate. Annual surveillance for renal cancer is recommended for individuals with BHD, with MRI being the preferred method.
