Genetic analysis in children with Escherichia coli O157-associated hemolytic uremic syndrome

Hemolytic uremic syndrome（HUS）是儿童急性renal failure的一个重要原因。Verotoxin（VT）-生产大肠杆菌（E. coli）（VTEC），特别是那些血清组O 157：H7，是Hemorrhagic Colitis的主要原因，对HUS的大多数病例负有责任。E. coli O 157生产VT的大剂量，其中旅行者采用了极化的胃肠道表皮细胞，并获得了系统循环。它的作用是启动对器官的伤害，就像肾脏一样。最近，人类免疫性基因中的一组多态性已经报告了肿瘤坏死因子--（TNF--）和白细胞介素-1-（IL-1-）基因定位包含多态性，它们与TNF-和IL-1--的增加保密有关。^~_.我们因此在免疫性基因多态性中可能有一个重要的作用。为了测试这种催眠，我们研究了（1）TNF-□启动子、（2）TNF-□、（3）IL-1 □、（4）IL-1受体拮抗剂（IL-1 RA）和（5）IL-1类型的影响。 ... More e1受体启动子（IL-1 RI）基因多态性对日本儿童与VTEC相关的HUS的基因多态性和严重程度。我们从日本的八家医院与VTEC相关的HUS研究了48名日本儿科患者。总共有78名不相关的日本成年人健康志愿者也在研究控制。对五种免疫性基因在与VTEC相关的HUS和控制人群中表现的基因型和常见频率的分析。在与VTEC相关的HUS和健康控制患者的基因型和等位基因之间没有明显的差异。在一次年龄、最大血液urea硝酸根、最大血清肌酐、寡藻的持续时间、患者需要透析的比率、最低限度的红细胞蛋白、最低限度的平台计数和每种基因型中患者的比率没有显著差异。在合并方面，我们证明了免疫性基因多态性对日本儿童与VTEC相关的HUS的事件和严重程度没有影响。Less（低）

Hemolytic uremic syndrome(HUS) is a significant cause of acute renal failure in children. Verotoxin(VT)-producing Escherichia coli(E.coli)(VTEC), particularly those of serogroup O157:H7, are the major cause of hemorrhagic colitis and are responsible for most cases of HUS. E.coli O157 produce large amounts of VT, which traverses polarized gastrointestinal epithelial cells, and gains the systemic circulation. It acts in initiating damage to target organs, such as kidney. Recently, a number of polymorphisms in human immunoregulatory genes have been reported Both the tumor necrosis factor-□(TNF-□) and interleukin-1□(IL-1□) gene loci contain polymorphisms that are associated with the increased secretion of TNF-□ and IL-1□^^〜__・ We therefore postulated that immunoregulatory gene polymorphisms might have an important role in the pathogenesis of HUS. To test this hypothesis, we investigated the effect of (1)TNF-□ promoter, (2)TNF-□, (3)IL-1□, (4)IL-1 receptor antagonist(IL-1RA) and (5)IL-1 typ … More e 1 receptor promoter(IL-1RI) gene polymorphisms on the incidence and the severity of Japanese children with VTEC associated HUS. We studied 48 consecutive Japanese pediatric patients with VTEC-associated HUS from eight hospitals in Japan. A total of 78 unrelated Japanese adult healthy volunteers were also studied as controls. Analysis of the genotype and allele frequencies of the five immunoregulatory genes was performed in the patients with VTEC-associated HUS and the control population. There were no significant differences in genotype and allele between patients with VTEC-associated HUS and healthy controls. There were no significant differences in age at onset, maximum blood urea nitrogen, maximum serum creatinine, duration of oligoanuria, ratio of patients requiring dialysis, minimum hemoglobin, minimum platelet count and ratio of patients with seizure among each genotype. In conclusion, we have demonstrated no efffect of immunoregulatory gene polymorphisms on the incidence and the severity of Japanese children with VTEC associated HUS. Less