ADAMTS-13 deficiency: can it cause chronic renal failure?
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.
Maternal and Fetal Research Unit, King's College London, London, UK.
Kate
K
Bramham
Rachel
R
Hilton
Catherine
C
Horsfield
Vickie
V
McDonald
Raymond
R
Camilleri
Beverley J
BJ
Hunt
D051722:ADAM Proteins / Q000172:deficiency* / Q000235:genetics*; D000071120:ADAMTS13 Protein; D001706:Biopsy; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology*; D007676:Kidney Failure, Chronic / Q000209:etiology*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human