Perret B, Gaze H, Zimmermann A, Oetliker O
Helv Paediatr Acta. 1979 May;34(2):167-76.
A case of familial hemolytic uremic syndrome (HUS) in a four"year-old boy is reported. In his family four adult members are affected with the same disease. In the present patient we decided to perform bilateral nephrectomy because of the inexorable evolution of the disease. The intervention was followed by a distinct improvement, both from the clinical and the laboratory point of view. The child has profited of a renal transplantation. Unfortunately, he died three weeks later because of a severe urological complication. The aim of this study was to examine the effect of bilateral nephrectomy and transplantation on the clinical, laboratory and pathologic anatomical findings, and to analyze the literature, in order to find out whether these measures should be applied in the treatment of familial HUS with severe evolution. The observations seem to confirm the hypothesis of a renal pathogenesis of primary non endemic familial HUS. Nephrectomy seems to stop the disease, and the risk of a recurrence of the HUS after transplantation may be small. The occurrence of the disease in five family members in three generations was interpreted in favour of a genetic predisposition with a dominant gene.
报告了一例4岁男孩的家族性溶血性尿毒症综合征(HUS)。在他的家族中,有4名成年成员患有相同疾病。鉴于该疾病的不可阻挡的进展,我们决定对当前患者实施双侧肾切除术。从临床和实验室角度来看,该干预措施带来了明显的改善。患儿接受了肾脏移植。不幸的是,他在三周后因严重的泌尿系统并发症死亡。本研究的目的是检查双侧肾切除术和移植对临床、实验室及病理解剖学发现的影响,并分析文献,以确定这些措施是否应应用于治疗进展严重的家族性HUS。观察结果似乎证实了原发性非地方性家族性HUS的肾脏发病机制假说。肾切除术似乎能阻止疾病进展,移植后HUS复发的风险可能较小。三代人中五名家族成员发病被解释为支持显性基因的遗传易感性。