Gomes Sara Madureira, Teixeira Rita Pissarra, Rocha Gustavo, Soares Paulo, Guimaraes Hercilia, Santos Paulo, Jardim Joana, Barreira João Luís, Pinto Helena
Department of Pediatrics, Centro Hospitalar Universitário de São João, Porto, Portugal.
Department of Neonatology, Centro Hospitalar Universitário de São João, Porto, Portugal.
AJP Rep. 2021 Apr;11(2):e95-e98. doi: 10.1055/s-0041-1731057. Epub 2021 Jun 23.
The atypical hemolytic uremic syndrome (aHUS) in the newborn is a rare disease, with high morbidity. Eculizumab, considered a first-line drug in older children, is not approved in neonates and in children weighing less than 5 kg. We present a 5-day-old female newborn, born at 36 weeks' twin gestation, by emergency cesarean section due to cord prolapse, with birth weight of 2,035 g and Apgar score of 7/7/7, who develops microangiopathic hemolytic anemia, thrombocytopenia, and progressive acute renal failure. In day 5, after diagnosis of aHUS, a daily infusion of fresh frozen plasma begins, with improvement of thrombocytopenia and very slight improvement in renal function. The etiologic study (congenital infection, Shiga toxin, ADAMTS13 activity, directed metabolic study) was normal. C3c was slightly decreased. On day 16 for maintenance of anemia and severe renal failure, she started 300 mg/dose eculizumab. Anemia resolves in 10 weeks and creatinine has normal values after 13 weeks of treatment. The genetic study was normal. In this case, eculizumab is effective in controlling microangiopathy and in the recovery of renal function. Diagnosis of neonatal aHUS can be challenging because of phenotypic heterogeneity and potential overlap with other manifestations that may confound it, such as perinatal asphyxia or sepsis/disseminated intravascular coagulation.
新生儿非典型溶血性尿毒症综合征(aHUS)是一种罕见病,发病率高。依库珠单抗在大龄儿童中被视为一线药物,但在新生儿及体重小于5千克的儿童中未获批准。我们报告一例5日龄女性新生儿,孕36周双胎妊娠,因脐带脱垂行急诊剖宫产出生,出生体重2035克,阿氏评分7/7/7,出现微血管病性溶血性贫血、血小板减少及进行性急性肾衰竭。第5天,诊断为aHUS后开始每日输注新鲜冰冻血浆,血小板减少情况改善,肾功能有非常轻微的改善。病因学研究(先天性感染、志贺毒素、ADAMTS13活性、针对性代谢研究)结果正常。C3c略有降低。第16天,因贫血及严重肾衰竭持续存在,开始使用依库珠单抗300毫克/剂量。10周后贫血缓解,治疗13周后肌酐值恢复正常。基因研究结果正常。在此病例中,依库珠单抗在控制微血管病及肾功能恢复方面有效。新生儿aHUS的诊断可能具有挑战性,因为其表型异质性以及可能与其他混淆表现(如围产期窒息或败血症/弥散性血管内凝血)存在重叠。