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

Nephrol Dial Transplant. 2011 Feb;26(2):742-4. doi: 10.1093/ndt/gfq644. Epub 2010 Oct 14.

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.

Publication types

  • Case Reports

MeSH terms

  • ADAM Proteins / deficiency*
  • ADAM Proteins / genetics*
  • ADAMTS13 Protein
  • Biopsy
  • Fatal Outcome
  • Female
  • Humans
  • Kidney / pathology*
  • Kidney Failure, Chronic / etiology*
  • Middle Aged
  • Polymorphism, Single Nucleotide

Substances

  • ADAM Proteins
  • ADAMTS13 Protein
  • ADAMTS13 protein, human