Department of Pediatric Nephrology, Ankara Child Health, Hematology, Oncology Education and Research Hospital, Ankara, Turkey.
Pediatr Nephrol. 2012 Dec;27(12):2327-31. doi: 10.1007/s00467-012-2283-9. Epub 2012 Aug 19.
Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in childhood. It usually occurs after a prodromal episode of diarrhea and it leads to significant morbidity and mortality during the acute phase. However, cases that start as diarrhea-positive HUS whose renal function fail to recover should be screened for genetic disorders of the complement system, which is called atypical HUS (aHUS).
CASE-DIAGNOSIS/TREATMENT: We herein report a 10-year-old girl, who initially came with bloody diarrhea and had features of HUS with delayed renal and hematological recovery despite plasma therapy. Eculizumab (600 mg/week) was initiated on day 15 for atypical presentation and later a complement factor I (CFI) mutation was detected. The girl recovered diuresis within 24 h and after the third eculizumab infusion, hemoglobin, platelet, and C3 levels normalized; renal function improved; and proteinuria completely disappeared in 2 weeks.
It is our belief that eculizumab can be the treatment of choice in children who have plasma exchange-refractory HUS with defective regulation of the alternative complement pathway.
溶血尿毒综合征（HUS）是儿童急性肾衰竭最常见的原因。它通常发生在腹泻前驱期后，并在急性期导致显著的发病率和死亡率。然而，那些以腹泻阳性 HUS 起始但肾功能未能恢复的病例，应筛查补体系统的遗传疾病，称为非典型 HUS（aHUS）。
病例诊断/治疗：我们在此报告一例 10 岁女孩，最初出现血性腹泻，并具有 HUS 的特征，尽管进行了血浆治疗，但肾脏和血液学恢复延迟。在第 15 天，由于非典型表现而开始使用依库珠单抗（600mg/周），后来检测到补体因子 I（CFI）突变。女孩在 24 小时内恢复利尿，第三次依库珠单抗输注后，血红蛋白、血小板和 C3 水平恢复正常；肾功能改善；蛋白尿在 2 周内完全消失。
我们认为，在对替代补体途径调节缺陷的血浆置换难治性 HUS 儿童中，依库珠单抗可以作为治疗选择。
