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ADAMTS-13 deficiency: can it cause chronic renal failure?

Bramham, Kate and Hilton, Rachel and Horsfield, Catherine and McDonald, Vickie and Camilleri, Raymond and Hunt, Beverley J. (2011) ADAMTS-13 deficiency: can it cause chronic renal failure? Nephrology, Dialysis, Transplantation, 26 (2). pp. 742-744. ISSN 0931-0509

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Official URL: http://dx.doi.org/10.1093/ndt/gfq644

Abstract

We describe a case of a 45-year-old woman with progressive chronic kidney disease (CKD), macrocytic anaemia without fragments or thrombocytopaenia, and thrombotic microangiopathy on renal biopsy. ‘A disintegrin and metalloprotease, with thrombospondin-1-like domains’ (ADAMTS-13) deficiency was detected, and genotyping revealed single-nucleotide polymorphisms known to be associated with reduced ADAMTS-13 secretion and activity. Congenital thrombotic thrombocytopaenic purpura was diagnosed with unusual features of late presentation and absent neurological involvement. ADAMTS-13 deficiency should be considered a cause of CKD when features of thrombotic microangiopathy are present on renal biopsy.

Item Type:Article
Research Community:University of Westminster > Life Sciences, School of
ID Code:9525
Deposited On:15 Jun 2011 15:52
Last Modified:15 Jun 2011 15:53

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