Abstract
BackgroundBirt-Hogg-Dubé (BHD) Syndrome is a rare genodermatosis caused by a mutation on folliculin gene, with a strong link to renal cancer. To date few patients with such condition have reached dialysis stage, as nephron-sparing surgery is usually possible at the time of diagnosis. To our best knowledge no patient with BHD syndrome has been submitted to renal transplantation.Case presentationWe report the case of a woman diagnosed with multifocal bilateral renal cell carcinoma that underwent bilateral radical nephrectomy and was started on a regular hemodialysis program at the age of 29. While on hemodialysis program she was diagnosed clinically with BHD syndrome and molecular testing confirmed an heterozygous mutation on FLCN gene. The patient has been kept on surveillance program for 2 years with no clinical complications from the genetic syndrome and in complete remission from renal cancer. Though there has not been any report of a patient with BHD being transplanted, risks and benefits for this patient were weighted. She has been considered apt by the transplant team and is currently waitlisted for cadaveric renal transplantation.DiscussionIt is a matter of discussion which should be cancer-free period for anephric patients with an inherited cancer syndrome to be candidates for renal transplant. So far BHD syndrome has not been causally associated with any other neoplastic disorder elsewhere. Accepting cancer biology is very complex and knowledge of the behaviour of this genetic syndrome is limited to a few cases reported worldwide, the authors believe that renal transplantation is the best treatment option for this young patient. The choice of post transplantation immunosuppression is debatable, but considering experience in other inherited cancer syndromes a maintenance scheme with mTOR inhibitor will be favoured.
Highlights
DiscussionIt is a matter of discussion which should be cancer-free period for anephric patients with an inherited cancer syndrome to be candidates for renal transplant
Birt-Hogg-Dubé (BHD) Syndrome is a rare genodermatosis caused by a mutation on folliculin gene, with a strong link to renal cancer
It is a matter of discussion which should be cancer-free period for anephric patients with an inherited cancer syndrome to be candidates for renal transplant
Summary
Definite diagnosis of Birt-Hogg-Dubé Syndrome requires genetic testing for folliculin mutations. The FLCN mutation detection rate is 88% [8], due to a great variation in the expression of FLCN gene both within and between families with BHD [7]. BHD-associated renal cancer shares some of the clinical features of the tuberous sclerosis complex syndrome, which on its own regulate proteins involved in the mTOR pathway, and should be part of the differential diagnosis when considering BHD. To our knowledge there hasn’t been any report of a BHD patient having a kidney transplant, there is some evidence of successful renal transplantation in patients with other inherited kidney cancer syndromes such as Von Hippel Lindau and Tuberous sclerosis syndrome [17,18,19]. There is evidence that mTOR inhibitors should be the favored immunosuppressant in patients with loss of VHL function [20] and has been used in transplantation of patients with Von Hippel Lindau disease
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