Article
aHUS associated with C3 gene mutation: a case with numerous relapses and favorable 20-year outcome.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2016
Siomou Ekaterini, Gkoutsias Athanasios, Serbis Anastasios, Kollios Konstantinos, Chaliasos Nikolaos, Frémeaux-Bacchi Veronique
Abstract excerpt
BACKGROUND: Atypical hemolytic uremic syndrome (aHUS) is frequently associated with gene mutations in complement-regulatory proteins and activators. Different complement C3 gene mutations have been associated with different outcomes in aHUS. CASE-DIAGNOSIS/TREATMENT: We report the case of a 21-year-old male with a C3 heterozygous gene mutation (p.Ile1157Thr) who developed aHUS at the age of 10 months and had six...
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