Department of Nephrology, Odense University Hospital, Odense, Denmark.
Department of Cardiovascular and Renal Research, Institute of Molecular Medicine, University of Southern Denmark, Odense, Denmark.
Pediatr Transplant. 2023 Aug;27(5):e14495. doi: 10.1111/petr.14495. Epub 2023 Apr 12.
This case report highlights a successful steroid-free, low-dose immunosuppressive protocol for renal transplantation in a pediatric patient with Schimke immuno-osseous dysplasia with excellent 7-year patient and graft survival. Schimke immuno-osseous dysplasia is a rare multisystem disorder involving the kidney. Renal transplantation is a therapeutic option, but posttransplant mortality is high due to severe infections and posttransplant lymphoproliferative disease.
A 10-year-old girl diagnosed with Schimke immuno-osseous dysplasia and end-stage renal disease underwent an AB0-compatible living-related kidney transplantation, with no donor-specific antibodies. Our standard immunosuppression protocol was modified due to the risk of infection. Basiliximab was used as induction therapy, and a reduced dose of mycophenolate mofetil and tacrolimus was initiated following transplantation, maintaining the patient on a low tacrolimus target (3-5 μg/L). Mycophenolate mofetil was discontinued after 8 weeks due to neutropenia and the patient was kept on tacrolimus as monotherapy. Five years posttransplant the patient developed acute onset of neurological symptoms, consisting of ataxia, lack of voluntary coordination, balance, aphasia and dysphagia, and diplopia. She recovered without neurological deficits within 6 weeks. Extensive evaluation revealed no pathology. To avoid a possible a component of tacrolimus-induced cerebral vasoconstriction, the immunosuppressive therapy was changed to everolimus.
Seven years posttransplant, the patient has experienced no serious infections, no rejections, and had excellent graft function, and no de novo donor-specific antibodies.
The present results indicate that low-dose immunosuppressive therapy after renal transplantation with low immunological risk should be considered for patients with Schimke immuno-osseous dysplasia.
本病例报告强调了在患有 Schimke 免疫骨发育不良的儿科患者中成功实施无类固醇、低剂量免疫抑制方案进行肾移植的案例，该患者在 7 年的患者和移植物存活率方面均取得了优异的效果。Schimke 免疫骨发育不良是一种罕见的多系统疾病，涉及肾脏。肾移植是一种治疗选择，但由于严重感染和移植后淋巴组织增生性疾病，移植后的死亡率很高。
一名 10 岁女孩被诊断患有 Schimke 免疫骨发育不良和终末期肾病，接受了 AB0 相容的活体亲属肾移植，且不存在供体特异性抗体。由于感染风险，我们修改了标准的免疫抑制方案。使用巴利昔单抗作为诱导治疗，移植后开始使用低剂量吗替麦考酚酯和他克莫司，将患者的他克莫司目标浓度维持在 3-5μg/L。由于中性粒细胞减少，在 8 周后停用吗替麦考酚酯，患者继续接受他克莫司单药治疗。移植后 5 年，患者出现急性神经系统症状，包括共济失调、缺乏自主协调、平衡、失语和吞咽困难以及复视。在 6 周内她无症状恢复。广泛评估未发现病理学。为避免可能的他克莫司诱导性脑血管收缩成分，将免疫抑制治疗改为依维莫司。
移植后 7 年，患者未发生严重感染、排斥反应，移植物功能良好，也未出现新的供体特异性抗体。
本研究结果表明，对于患有 Schimke 免疫骨发育不良的患者，肾移植后采用低免疫风险的低剂量免疫抑制治疗是值得考虑的。
