9
views
0
recommends
+1 Recommend
0 collections
    0
    shares
      • Record: found
      • Abstract: found
      • Article: not found

      Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.

      Read this article at

      ScienceOpenPublisherPubMed
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          Atypical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure, thrombocytopenia and microangiopathic hemolytic anemia, and occurs with an estimated incidence in the USA of 2 per 1,000,000. Disease pathogenesis is related to dysregulation of the alternative pathway (AP) of the complement cascade at the level of the cell membrane secondary to mutations in a number of complement genes including complement factor H (CFH), complement factor H-related 5 (CFHR5), complement factor I (CFI), CD46 (MCP), complement factor B (CFB), complement component 3 (C3) and thrombomodulin (THBD). Since aHUS is rare, mutation rate data in large patient cohorts are scarce. Here we present the first cohort of American patients in whom mutation screening was completed on all genes currently implicated in aHUS. In addition to identifying a number of novel variants, we provide information on the relative frequency of mutations in these genes in an American aHUS population. Twelve percent (12%) of patients carrying disease-associated genetic variants segregated mutations in more than one gene mandating comprehensive genetic testing in the diagnosis and management of these patients.

          Related collections

          Author and article information

          Journal
          Hum Mutat
          Human mutation
          Wiley
          1098-1004
          1059-7794
          Jun 2010
          : 31
          : 6
          Affiliations
          [1 ] Interdepartmental PhD Program in Genetics, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
          Article
          10.1002/humu.21256
          20513133
          adc27c8c-d6b7-4a97-acca-5ed9b7be13ac
          History

          Comments

          Comment on this article