Prophylactic plasma exchange in CD46-associated atypical haemolytic uremic syndrome

被引:25
作者
Davin, Jean-Claude [1 ]
Buter, Nynke [1 ]
Groothoff, Jaap [1 ]
van Wijk, Joanna [2 ]
Bouts, Antonia [1 ]
Strain, Lisa [3 ]
Goodship, Tim [3 ]
机构
[1] Univ Amsterdam, Acad Med Ctr, Emma Childrens Hosp, NL-1105 AZ Amsterdam, Netherlands
[2] Vrije Univ Amsterdam, Ctr Med, Amsterdam, Netherlands
[3] Univ Newcastle, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England
关键词
Atypical HUS; CD46; mutation; Membrane cofactor protein; Plasma exchange; MUTATIONS; IMPACT; HUS; C3;
D O I
10.1007/s00467-009-1188-8
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Patients with atypical haemolytic uremic syndrome (aHUS) with a mutation in the gene encoding membrane cofactor protein (CD46) are known to have a better prognosis than those with mutations in factor H (CFH) or factor I (CFI), but a small number of the former still proceed to end-stage renal failure. Plasma therapy (PE) is the recommended approach to treat both acute episodes and prevent recurrences in aHUS, but studies have yet to show PE efficacy in aHUS associated with a CD46 mutation. The factors determining failure to treatment are not clear and may be related to the mutation involved or to insufficient treatment. Our experience of PE in a family of three sisters with CFH-associated aHUS suggests that intensive and prophylactic PE allows renal function to be maintained in both native kidneys and allografts. The success of this strategy has led us to use it in all cases of aHUS. Here, we describe the effect of this strategy in a child with aHUS and a CD46 mutation. The initial episode was treated with daily PE, resulting in the recovery of renal function. However, over the next 4 years, there was a progressive decline in renal function to end-stage renal failure, with evidence of an on-going thrombotic microangiopathy despite continuous prophylactic PE. Prophylactic PE does not influence the natural course of aHUS and CD46 mutation.
引用
收藏
页码:1757 / 1760
页数:4
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