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.

View this study on kidney-international.org →

Discuss this study in the Community →

Similar Research

5 / 69 results

research Pulmonary Manifestations of Birt-Hogg-Dubé Syndrome

99 citations, May 2013 in “Familial cancer”

People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.

research Birt-Hogg-Dubé Syndrome: Genetic and Clinical Insights

7 citations, September 2013 in “Familial cancer”

Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.

Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion

72 citations, November 2012 in “PloS one”

The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.

research Pearly Pinna Papules in a Young Female

October 2023 in “Indian dermatology online journal”

The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.

research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome

33 citations, May 2015 in “JAMA Dermatology”

Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.