The Case: Bilateral Kidney Tumors and Lung Cysts

January 2013 in “ Kidney international ”

Surjit Tarafdar, Jonathan Gleadle

TLDR A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.

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.

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