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
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.
|Research Community:||University of Westminster > Life Sciences, School of|
|Deposited On:||15 Jun 2011 15:52|
|Last Modified:||15 Jun 2011 15:53|
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