|Title||ADAMTS-13 deficiency: can it cause chronic renal failure?|
|Authors||Bramham, K., Hilton, R., Horsfield, C., McDonald, V., Camilleri, R. and Hunt, B.J.|
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.
|Journal||Nephrology, Dialysis, Transplantation|
|Journal citation||26 (2), pp. 742-744|
|Publisher||Oxford University Press|
|Digital Object Identifier (DOI)||https://doi.org/10.1093/ndt/gfq644|