A hemodialysis patient with renal cell carcinomas who was diagnosed with Birt-Hogg-Dubé syndrome

Abstract

We report a hemodialysis (HD) patient with renal cell carcinomas and pulmonary cysts who was diagnosed with Birt-Hogg-Dubé (BHD) syndrome. A 73-year-old female with a history of 26 years on HD was admitted to our hospital due to unidentified fever. The patient had bilateral renal cell carcinomas, lung metastases, and pulmonary cysts. Family history revealed that her mother and aunt had had episodes of pneumothorax. These findings suggested BHD syndrome as the underling disorder. Genetic testing of folliculin (FLCN) was performed and its heterozygous mutation was detected. Hereditary diseases including BHD syndrome should be considered when HD patients with renal cell carcinomas have multiple pulmonary cysts and/or a family history of pneumothorax.