Journal of Nephrology & Therapeutics

Cees Middel

Publications

• Research Article
  Novel Sequence Variation Affects GPIb α in Post-diarrheal Hemolytic Uremic Syndrome
  Author(s): Elena Volokhina, Arjen Jakobi, Rolf Urbanus, Eric Huizinga, Henk Sluiter, Cees Middel, Dineke Westra, Waander van Heerde, Nicole van de Kar and Lambertus van den HeuvelElena Volokhina, Arjen Jakobi, Rolf Urbanus, Eric Huizinga, Henk Sluiter, Cees Middel, Dineke Westra, Waander van Heerde, Nicole van de Kar and Lambertus van den Heuvel
  
  Background: Hemolytic uremic syndrome (HUS) is one of the major causes of renal failure in children. In most cases the disease is caused by infection with Shiga toxin- producing Escherichia coli (STEC) and preceded by diarrhea. Only in 15% of cases STEC infection leads to HUS. Genetic predisposition of a patient to develop HUS after STEC infection might play a role, but very few reports on this subject are available. We describe a novel missense mutation in the GP1BA gene encoding platelet-receptor glycoprotein Ibα (GPIbα) in a severely affected HUS patient. Methods: GP1BA was screened by Sanger sequencing. Binding of recombinant GPIbα and von Willebrand factor (VWF) fragments was analyzed using surface plasmon resonance (SPR). The hematological studies using patient blood were performed. .. Read More»
  DOI: 10.4172/2161-0959.S11-007

  Abstract PDF