Teoh Chia Wei, Gorman Kathleen Mary, Lynch Bryan, Goodship Timothy H J, Dolan Niamh Marie, Waldron Mary, Riordan Michael, Awan Atif
Division of Nephrology, The Hospital for Sick Children, Toronto, ON, Canada.
Department of Paediatric Nephrology & Transplantation, The Children's University Hospital, Temple Street, Dublin 1, Ireland.
Case Rep Nephrol. 2018 Feb 6;2018:2781789. doi: 10.1155/2018/2781789. eCollection 2018.
Atypical hemolytic uremic syndrome (aHUS) is caused by dysregulation of the complement system. A humanised anti-C5 monoclonal antibody (eculizumab) is available for the treatment of aHUS. We present the first description of atypical HUS in a child with a coexistent diagnosis of a POL-III leukodystrophy. On standard eculizumab dosing regime, there was evidence of ongoing C5 cleavage and clinical relapses when immunologically challenged. Eculizumab is an effective therapy for aHUS, but the recommended doses may not be adequate for all patients, highlighting the need for ongoing efforts to develop a strategy for monitoring of treatment efficacy and potential individualisation of therapy.
非典型溶血性尿毒症综合征（aHUS）由补体系统失调引起。一种人源化抗C5单克隆抗体（依库珠单抗）可用于治疗aHUS。我们首次描述了一名同时诊断为POL-III型脑白质营养不良的儿童患非典型HUS的情况。在标准依库珠单抗给药方案下，有证据表明在免疫激发时存在持续的C5裂解和临床复发。依库珠单抗是治疗aHUS的有效疗法，但推荐剂量可能对所有患者并不足够，这凸显了持续努力制定治疗疗效监测策略和潜在个体化治疗方案的必要性。
