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

Bramham, K., Hilton, R., Horsfield, C., McDonald, V., Camilleri, R. and Hunt, B.J. 2011. ADAMTS-13 deficiency: can it cause chronic renal failure? Nephrology, Dialysis, Transplantation. 26 (2), pp. 742-744. https://doi.org/10.1093/ndt/gfq644

TitleADAMTS-13 deficiency: can it cause chronic renal failure?
AuthorsBramham, K., Hilton, R., Horsfield, C., McDonald, V., Camilleri, R. and Hunt, B.J.
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.

JournalNephrology, Dialysis, Transplantation
Journal citation26 (2), pp. 742-744
ISSN0931-0509
YearFeb 2011
PublisherOxford University Press
Digital Object Identifier (DOI)https://doi.org/10.1093/ndt/gfq644
Publication dates
PublishedFeb 2011

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