Article
Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association - 1 May 2006
Shibagaki Yugo, Matsumoto Masanori, Kokame Koichi, Ohba Shigeyoshi, Miyata Toshiyuki, Fujimura Yoshihiro, Fujita Toshiro
Abstract excerpt
BACKGROUND: Unlike acquired thrombotic thrombocytopenic purpura or haemolytic uraemic syndrome, which are often intractable, thrombotic microangiopathy in patients with Upshaw-Schulman syndrome (USS)--a congenital deficiency of von Willebrand factor-cleaving protease (ADAMTS13) activity--responds very well to plasma infusion and does not even require plasma exchange. However, the symptoms significantly vary in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.