Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab

TY - JOUR

T1 - Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation of CD46 treated with eculizumab

AU - Gilbert, Rodney D.

AU - Stanley, Louise K.

AU - Fowler, Darren J.

AU - Angus, Elizabeth M.

AU - Hardy, Steven A.

AU - Goodship, Timothy H.

N1 - © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA.

PY - 2013/8/1

Y1 - 2013/8/1

N2 - A 2-year-old patient with a neuroblastoma developed haemolytic uraemic syndrome (HUS) following treatment with cisplatin and carboplatin. Following treatment with eculizumab, there was a substantial improvement in renal function with the recovery of the platelet count and the cessation of haemolysis. Subsequent investigations showed a novel, heterozygous CD46 splice site mutation with reduced peripheral blood neutrophil CD46 expression. Withdrawal of eculizumab was followed by the recurrence of disease activity, which resolved with re-introduction of therapy. Abnormal regulation of complement may be associated with other cases of cisplatin-induced HUS and treatment with eculizumab may be appropriate for other affected individuals.

AB - A 2-year-old patient with a neuroblastoma developed haemolytic uraemic syndrome (HUS) following treatment with cisplatin and carboplatin. Following treatment with eculizumab, there was a substantial improvement in renal function with the recovery of the platelet count and the cessation of haemolysis. Subsequent investigations showed a novel, heterozygous CD46 splice site mutation with reduced peripheral blood neutrophil CD46 expression. Withdrawal of eculizumab was followed by the recurrence of disease activity, which resolved with re-introduction of therapy. Abnormal regulation of complement may be associated with other cases of cisplatin-induced HUS and treatment with eculizumab may be appropriate for other affected individuals.

KW - CD46

KW - cisplatin

KW - eculizumab

KW - haemolytic uraemic syndrome

UR - https://www.scopus.com/pages/publications/84881467255

U2 - 10.1093/ckj/sft065

DO - 10.1093/ckj/sft065

M3 - Article

AN - SCOPUS:84881467255

SN - 2048-8505

VL - 6

SP - 421

EP - 425

JO - Clinical Kidney Journal

JF - Clinical Kidney Journal

IS - 4

ER -