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Kidney Week

Abstract: SA-PO820

Renal Transplantation in a Recipient with Birt-Hogg-Dube Syndrome

Session Information

Category: Genetic Diseases of the Kidneys

  • 1202 Genetic Diseases of the Kidneys: Non-Cystic

Authors

  • Esmail, Rojin, Miami Transplant Institute, Miami, Florida, United States
  • Medina, Adriana, Miami Transplant Institute, Miami, Florida, United States
  • Trestrail, Timothy E., University of Miami School of Medicine, Miami, Florida, United States
  • Munoz Abraham, Armando Salim, University of Miami School of Medicine, Miami, Florida, United States
  • Cabeza Rivera, Franco H., Miami Transplant Institute, Miami, Florida, United States
  • Ciancio, Gaetano, University of Miami School of Medicine, Miami, Florida, United States
Introduction

Birt-Hogg-Dube Syndrome (BHDS) is a rare autosomal dominant disorder caused by folliculin (FLCN) germline mutations. Renal cell carcinoma (RCC) is the most serious manifestation of this condition occurring at a rate of 30%. Unlike other inherited renal cancers, BHDS is associated with a wide range of histologies. Although preserving renal function remains the central goal of management, the risk of end stage renal disease remains high. Patients with other inherited renal carcinomas (e.g. Von Hippel Lindau) have been successfully transplanted in the past. Herein, we have demonstrated how renal transplant can also be a viable treatment course for some patients with BHDS related RCC.

Case Description

A 48-year-old male presented to our facility for evaluation of recurrent pneumothorax. CT chest revealed bilateral pulmonary cysts and multiple bilateral renal masses. Given the coexisting pulmonary cysts and renal masses, he was evaluated and diagnosed with BHDS. After discussion with the patient, bilateral radical nephrectomy was performed due to the presence of multifocal tumors measuring up to 5 cm. Tumor pathology was consistent with oncocytoma and chromophobe RCC, pT1bN0M0. After two years of hemodialysis and surveillance, the patient was deemed a candidate for kidney transplant. Induction therapy consisted of thymoglobulin and solumedrol and the patient was discharged with mycophenolate mofetil, prednisone, and tacrolimus as maintenance.

Discussion

Tumor aggressiveness, metastasis risk, and time in remission are important factors when evaluating a patient with history of BHDS associated RCC for renal transplant. BHDS associated chromophobe and hybrid chromophobe/oncocytic tumors are less aggressive and it has been observed that the metastasis associated with these cancers tends to be more indolent in nature. Therefore, these patients are suitable candidates for transplant after a minimum waiting period. Post-transplant, immunosuppression with mTOR inhibitors can be considered since mutation of tumor suppressor FLCN in the mTOR pathway is central to BHDS pathogenesis.


CT scan showing bilateral renal tumors