Journal Article

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

Kate Bramham, Rachel Hilton, Catherine Horsfield, Vickie McDonald, Raymond Camilleri and Beverley J. Hunt

in Nephrology Dialysis Transplantation

Published on behalf of European Renal Association - European Dialysis and Transplant Assoc

Volume 26, issue 2, pages 742-744
Published in print February 2011 | ISSN: 0931-0509
Published online October 2010 | e-ISSN: 1460-2385 | DOI: http://dx.doi.org/10.1093/ndt/gfq644
ADAMTS-13 deficiency: can it cause chronic renal failure?

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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.

Keywords: ADAMTS-13 deficiency; chronic kidney disease; thrombotic thrombocytopaenic purpura

Journal Article.  1239 words.  Illustrated.

Subjects: Nephrology

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