PDF(Pubmed)
Abstract：
Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical haemolytic uraemic syndrome (aHUS) is a rare thrombotic microangiopathy that affects multiple organs, particularly kidneys. The disease is characterised by a triad of haemolytic anaemia, thrombocytopenia and acute kidney injury (AKI). aHUS is most commonly caused by dysregulation of alternative complement pathway. In contrast to shiga toxin-associated haemolytic uraemic syndrome, diarrheal prodrome is usually absent in children with aHUS. We report a 2-year, 9-month-old boy who presented with acute dysentery and AKI. He had an unusual prolonged course of illness with hypocomplementaemia; hence, genetic testing was performed. He had a storming course in the hospital and succumbed to complications of the disease. Genetic study revealed digenic mutation in Complement Factor I and C3 Therefore, it is important to differentiate aHUS from other thrombotic microangiopathies to improve the outcome.
摘要：
补体介导的肾脏疾病一直是肾脏病领域的一个发展领域。非典型溶血性尿毒症综合征（aHUS）是一种罕见的血栓性微血管病，影响多个器官，尤其是肾脏。该疾病的特征是溶血性贫血三联症，血小板减少和急性肾损伤（AKI）。HUS是最常见的由替代补体途径的失调引起的。与志贺毒素相关的溶血性尿毒综合征相反，aHUS患儿通常不存在腹泻前驱症状。我们报告了两年，出现急性痢疾和AKI的9个月大男孩。他患有低补体血症的病程异常延长；因此，进行基因检测。他在医院里进行了一次暴风雨课程，并死于疾病的并发症。遗传研究显示补体因子I和C3的双基因突变，因此，区分aHUS和其他血栓性微血管病变对改善预后很重要.
