Abraham Armando Salim Munoz, Medina Adriana, Esmail Rojin, Trestrail Timothy, Rivera Franco Cabeza
Department of Surgery, University of Miami Miller School of Medicine, Miami Transplant Institute, Jackson Memorial Hospital, Miami, Florida, USA.
University of Miami Miller School of Medicine, Jackson Memorial Hospital, Miami, Florida, USA.
Case Rep Transplant. 2025 Jul 23;2025:5889953. doi: 10.1155/crit/5889953. eCollection 2025.
Birt-Hogg-Dubé syndrome is a rare autosomal dominant disorder caused by folliculin germline mutations. Renal cell carcinoma is the most serious manifestation of this condition occurring at a rate of 30%, often requiring nephrectomy. 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 have been successfully transplanted in the past, but there is scarce literature regarding Birt-Hogg-Dubé syndrome and kidney transplantation. A 48-year-old male presented to our facility for evaluation of recurrent pneumothorax. Computed tomography of the chest revealed bilateral pulmonary cysts and multiple bilateral renal masses. Given the coexisting pulmonary cysts and renal masses, he was diagnosed with Birt-Hogg-Dubé syndrome. Bilateral radical nephrectomy was performed due to the presence of multifocal tumors measuring up to 5 cm. Tumor pathology was consistent with oncocytoma and renal cell carcinoma. After 2 years of hemodialysis and surveillance, the patient underwent kidney transplant. At 2-year follow-up after transplantation, renal function remains stable and has no evidence of recurrent renal disease, managed with belatacept and mTor inhibitors. Tumor aggressiveness, metastasis risk, and time in remission are important factors when evaluating a patient with a history of Birt-Hogg-Dubé syndrome associated with renal cell carcinoma for kidney transplant. Therefore, these patients are suitable candidates for transplant after a minimum waiting period. Posttransplant immunosuppression with mTOR inhibitors can be considered since the mutation of the tumor suppressor folliculin germline in the mTOR pathway is central to Birt-Hogg-Dubé syndrome pathogenesis. In this case report, we demonstrated that kidney transplantation is a viable option for patients with Birt-Hogg-Dubé syndrome-related renal cell carcinoma.
Birt-Hogg-Dubé综合征是一种由卵泡抑素种系突变引起的罕见常染色体显性疾病。肾细胞癌是该疾病最严重的表现形式，发生率为30%，常需进行肾切除术。尽管保留肾功能仍是治疗的核心目标，但终末期肾病的风险仍然很高。过去，其他遗传性肾癌患者已成功接受移植，但关于Birt-Hogg-Dubé综合征和肾移植的文献很少。一名48岁男性因复发性气胸前来我院评估。胸部计算机断层扫描显示双侧肺囊肿和双侧多发肾肿块。鉴于同时存在肺囊肿和肾肿块，他被诊断为Birt-Hogg-Dubé综合征。由于存在最大直径达5厘米的多灶性肿瘤，患者接受了双侧根治性肾切除术。肿瘤病理与嗜酸细胞瘤和肾细胞癌一致。经过2年的血液透析和监测后，患者接受了肾移植。移植后2年随访时，肾功能保持稳定，没有复发性肾病的迹象，采用贝拉西普和mTor抑制剂进行治疗。在评估有Birt-Hogg-Dubé综合征相关肾细胞癌病史的患者是否适合肾移植时，肿瘤侵袭性、转移风险和缓解时间是重要因素。因此，这些患者在最短等待期后是合适的移植候选人。由于mTOR通路中肿瘤抑制因子卵泡抑素种系突变是Birt-Hogg-Dubé综合征发病机制的核心，因此可以考虑使用mTOR抑制剂进行移植后免疫抑制。在本病例报告中，我们证明了肾移植是Birt-Hogg-Dubé综合征相关肾细胞癌患者的一种可行选择。
