| Autor: |
Bramham K; Maternal and Fetal Research Unit, King's College London, London, UK., Hilton R, Horsfield C, McDonald V, Camilleri R, Hunt BJ |
| Jazyk: |
angličtina |
| Zdroj: |
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association [Nephrol Dial Transplant] 2011 Feb; Vol. 26 (2), pp. 742-4. Date of Electronic Publication: 2010 Oct 14. |
| DOI: |
10.1093/ndt/gfq644 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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