TY - JOUR
T1 - ADAMTS-13 deficiency
T2 - can it cause chronic renal failure?
AU - Bramham, Kate
AU - Hilton, Rachel
AU - Horsfield, Catherine
AU - McDonald, Vickie
AU - Camilleri, Raymond
AU - Hunt, Beverley
PY - 2011/2
Y1 - 2011/2
N2 - 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.
AB - 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.
U2 - 10.1093/ndt/gfq644
DO - 10.1093/ndt/gfq644
M3 - Article
SN - 1460-2385
VL - 26
SP - 742
EP - 744
JO - Nephrology, Dialysis, Transplantation
JF - Nephrology, Dialysis, Transplantation
IS - 2
ER -