Hemolytic-uremic syndrome: 24 years’ experience of a pediatric nephrology unit

Abstract Introduction: A better understanding of hemolytic-uremic syndrome (HUS) pathophysiology significantly changed its treatment and prognosis. The aim of this study is to characterize the clinical features, severity, management, and outcomes of HUS patients. Materials and Methods: Retrospective study of HUS patients admitted to a Pediatric Nephrology Unit between 1996 and 2020. Demographic and clinical data regarding etiology, severity, treatment strategies, and patient outcome were collected. Results: Twenty-nine patients with HUS were admitted to our unit, but four were excluded. Median age at diagnosis was two years (2 months - 17 years). Clinical manifestations included diarrhea, vomiting, oliguria, hypertension, and fever. During the acute phase, 14 patients (56%) required renal replacement therapy. Infectious etiology was identified in seven patients (five Escherichia coli and two Streptococcus pneumoniae). Since 2015, 2/7 patients were diagnosed with complement pathway dysregulation HUS and there were no cases of infectious etiology detected. Six of these patients received eculizumab. The global median follow-up was 6.5 years [3 months-19.8 years]. One patient died, seven had chronic kidney disease, four of whom underwent kidney transplantation, one relapsed, and seven had no sequelae. Conclusion: These results reflect the lack of infectious outbreaks in Portugal and the improvement on etiological identification since genetic testing was introduced. The majority of patients developed sequels and mortality was similar to that of other countries. HUS patients should be managed in centers with intensive care and pediatric nephrology with capacity for diagnosis, etiological investigation, and adequate treatment. Long-term follow-up is essential.

摘要 引言：对溶血尿毒综合征（hemolytic-uremic syndrome, HUS）病理生理机制的深入认知，显著改变了其治疗方案与预后结局。本研究旨在明确HUS患者的临床特征、病情严重程度、诊疗策略及转归情况。
材料与方法：本研究为回顾性分析，纳入1996年至2020年间收住于某儿童肾病科的HUS患者，收集其人口统计学与临床资料，涵盖病因、病情严重程度、治疗方案及患者转归。
结果：本中心共收治29例HUS患者，其中4例被排除。患者确诊时的中位年龄为2岁（范围：2个月至17岁）。临床表现包括腹泻、呕吐、少尿、高血压及发热。急性期内，14例患者（占比56%）需接受肾脏替代治疗。7例患者明确感染性病因，其中5例为大肠杆菌（Escherichia coli）感染，2例为肺炎链球菌（Streptococcus pneumoniae）感染。自2015年起，7例患者中有2例被诊断为补体通路异常介导的HUS，此期间未检出感染性病因病例。其中6例患者接受了依库珠单抗（eculizumab）治疗。总体中位随访时长为6.5年（范围：3个月至19.8年）。1例患者死亡，7例患者出现慢性肾脏病，其中4例接受了肾移植，1例病情复发，另有7例患者未遗留后遗症。
结论：本研究结果反映出葡萄牙地区未出现感染性HUS暴发，且自引入基因检测以来，病因鉴定水平得到提升。多数患者遗留了后遗症，总体死亡率与其他国家水平相当。HUS患者应在具备重症监护与儿童肾病诊疗能力，且可开展病因检测与规范治疗的医疗中心进行管理。长期随访至关重要。