Department of Pediatric Nephrology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.
Paediatr Int Child Health. 2020 May;40(2):129-131. doi: 10.1080/20469047.2019.1616458. Epub 2019 Jun 27.
Haemolytic uraemic syndrome (HUS) is most commonly associated with Shiga toxin-producing (STEC) while the recurrent hereditary atypical (aHUS) form secondary to complement system control protein mutations is relatively rare. A 6-year-old boy with complement factor H (CFH) and factor B (CFB) mutations and a history of bloody diarrhoea and PCR positivity for Shiga toxin was initially diagnosed as STEC+HUS. Acute kidney injury resolved with Eculizumab but he remains with chronic renal failure. Although the exact role of STEC in the pathogenesis of aHUS in this patient is not certain, there seems to be a relationship. However, several issues remain to be explained including the effect of genetic and environmental factors in modifying susceptibility to develop aHUS in some patients following STEC infection.: aHUS: atypical haemolytic uraemic syndrome; ANA: anti-nuclear antibody; ANCA: anti-neutrophil cytoplasmic antibody; ASO: anti-streptolysin O; BUN: blood urea nitrogen; CFB: complement factor B; CFH: complement factor H; EHEC: enterohaemorrhagic ; MCP: membrane co-factor protein; PD: peritoneal dialysis; STEC: Shiga toxin-producing ; STX 1-2: Shiga toxins 1-2.
溶血尿毒综合征（HUS）最常与产志贺样毒素（STEC）相关，而继发于补体系统控制蛋白突变的复发性遗传性非典型（aHUS）形式则相对较少见。一名 6 岁男孩存在补体因子 H（CFH）和补体因子 B（CFB）突变，并有血便和志贺毒素 PCR 阳性的病史，最初被诊断为 STEC+HUS。依库珠单抗治疗后急性肾损伤得到缓解，但仍存在慢性肾衰竭。尽管 STEC 在该患者的 aHUS 发病机制中的确切作用尚不确定，但似乎存在关联。然而，仍有一些问题需要解释，包括遗传和环境因素在某些患者继发于 STEC 感染后发生 aHUS 中的作用：aHUS：非典型溶血尿毒综合征；ANA：抗核抗体；ANCA：抗中性粒细胞胞质抗体；ASO：抗链球菌溶血素 O；BUN：血尿素氮；CFB：补体因子 B；CFH：补体因子 H；EHEC：肠出血性大肠埃希菌；MCP：膜辅因子蛋白；PD：腹膜透析；STEC：产志贺样毒素；STX1-2：志贺毒素 1-2。
