title: Cisplatin-induced haemolytic uraemic syndrome associated with a novel intronic mutation ofCD46treated with eculizumab.
abstract: 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, heterozygousCD46splice 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.
authors.affiliation: Regional Paediatric Nephro-Urology Unit , University Hospital Southampton NHS Foundation Trust , Southampton , UK ; School of Medicine , University of Southampton , Southampton , UK.
authors.forename: Rodney D
authors.initials: RD
authors.lastname: Gilbert
authors.affiliation: Northern Molecular Genetics Service , International Centre for Life, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK.
authors.forename: Louise K
authors.initials: LK
authors.lastname: Stanley
authors.affiliation: Department of Histopathology , University Hospital Southampton NHS Foundation Trust , Southampton , UK.
authors.forename: Darren J
authors.initials: DJ
authors.lastname: Fowler
authors.affiliation: Biomedical Imaging Unit , University Hospital Southampton NHS Foundation Trust , Southampton , UK.
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Angus
authors.affiliation: Northern Molecular Genetics Service , International Centre for Life, Newcastle upon Tyne Hospitals NHS Foundation Trust , Newcastle upon Tyne , UK.
authors.forename: Steven A
authors.initials: SA
authors.lastname: Hardy
authors.affiliation: Institute of Genetic Medicine , Newcastle University, International Centre for Life , Newcastle upon Tyne , UK.
authors.forename: Timothy H
authors.initials: TH
authors.lastname: Goodship
keywords: CD46; cisplatin; eculizumab; haemolytic uraemic syndrome