Zimmerhackl L Bernd, Besbas Nesir, Jungraithmayr Therese, van de Kar Nicole, Karch Helge, Karpman Diana, Landau Daniel, Loirat Chantal, Proesmans Willem, Prüfer Friederike, Rizzoni Gianfranco, Taylor Mark C
Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria.
Semin Thromb Hemost. 2006 Mar;32(2):113-20. doi: 10.1055/s-2006-939767.
Hemolytic uremic syndrome (HUS) includes a heterogeneous group of hemolytic disorders. Among the identified causes of HUS are infections, particularly infections with Shiga toxin-producing ESCHERICHIA COLI (STEC), complement disorders, and disorders interfering with the degradation of von Willebrand factor (VWF). Other causes for atypical HUS include the cobalamin metabolism; pregnancy/hemolysis, elevated liver enzymes, and low platelets syndrome (HELLP); drugs; and other disorders (e.g., systemic diseases appearing as HUS, such as systemic lupus erythematosus and rejection after transplantation). The group not related to STEC is often also called atypical HUS. Most of the occurrences of infectious HUS have only one episode. Recurrent episodes (recurrent HUS) have strong relationships to diseases of the complement system. In these two subgroups the prognosis is poor, with severe renal insufficiency, together with the need for renal replacement therapy. Severe arterial hypertension is common. Treatment options are limited. To better define this group of patients, the European Society for Pediatric Nephrology supported an initiative to develop a European HUS registry. In this registry, 167 patients were acquired; 73 were female (43.8%). The year of onset of the disease ranged from 1974 to 2005. The prevalence of atypical HUS/recurrent HUS can be calculated as 3.3 per million child population (< 18 years). Underlying disorders included factor H, factor I, MCP-1, pneumococci, and von Willebrand factor disturbances. In 33 patients at least one renal transplantation was performed (total, 55 kidneys); 18% were successful and 73% demonstrated recurrence or thrombosis. Treatment options were plasma substitution or plasmapheresis. Despite continued efforts, transplantation is not recommended at present for these patients. Living-related transplantation should be abandoned. New therapeutic strategies are urgently needed.
溶血尿毒综合征（HUS）包括一组异质性的溶血性疾病。已确定的HUS病因包括感染，尤其是产志贺毒素大肠杆菌（STEC）感染、补体紊乱以及干扰血管性血友病因子（VWF）降解的疾病。非典型HUS的其他病因包括钴胺素代谢异常、妊娠/溶血、肝酶升高和血小板减少综合征（HELLP）、药物以及其他疾病（如表现为HUS的全身性疾病，如系统性红斑狼疮和移植后排斥反应）。与STEC无关的这一组通常也称为非典型HUS。大多数感染性HUS病例仅发作一次。复发发作（复发性HUS）与补体系统疾病密切相关。在这两个亚组中，预后较差，伴有严重肾功能不全，同时需要肾脏替代治疗。重度动脉高血压很常见。治疗选择有限。为了更好地界定这组患者，欧洲儿科肾脏病学会支持一项建立欧洲HUS登记处的倡议。在这个登记处，收集了167例患者；73例为女性（43.8%）。疾病发病年份从1974年至2005年。非典型HUS/复发性HUS的患病率可计算为每百万儿童人口（<18岁）3.3例。潜在疾病包括因子H、因子I、MCP-1、肺炎球菌和血管性血友病因子紊乱。33例患者至少进行了一次肾移植（共55个肾脏）；18%成功，73%出现复发或血栓形成。治疗选择为血浆置换或血浆分离术。尽管不断努力，但目前不建议对这些患者进行移植。亲属活体移植应放弃。迫切需要新的治疗策略。
