Article
A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2007
Geelen Joyce, van den Dries Koen, Roos Anja, van de Kar Nicole, de Kat Angelino Corrie, Klasen Ina, Monnens Leo, van den Heuvel Lambertus
Abstract excerpt
A genetic predisposition involving complement regulatory genes has become evident in some patients with atypical HUS. In this paper, a patient with a heterozygous missense mutation in factor I (IF) is described. Although the serum level of IF was normal, a mild functional defect in the alternative pathway of complement could be demonstrated in the affected members of the family. After an episode of atypical HUS,...
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