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Title of Journal: Pediatr Nephrol

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Abbravation: Pediatric Nephrology

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Springer Berlin Heidelberg

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DOI

10.1007/s10808-008-0122-3

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ISSN

1432-198X

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Emphasis Type="Italic"CFH/Emphasis gene mutati

Authors: Caroline Caillaud Ariane Zaloszyc Christoph Licht Valérie Pichault Véronique FrémeauxBacchi Michel Fischbach
Publish Date: 2015/09/23
Volume: 31, Issue: 1, Pages: 157-161
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Abstract

An 18monthold patient presented with hemolytic anemia and thrombotic microangiopathy in the context of acute gastroenteritis While the patient did not show kidney or other organ failure he had persistent hemolysis and complement 3 activation low C3 leading to the decision to commence immunotherapy with eculizumab Soliris® together with transient antibiotic coverage and meningococcal vaccination Patient outcome was favorable Diagnostic workup identified Escherichia coliassociated Type 2 Shiga toxin Complement analysis showed a heterozygous mutation of the CFH gene c2103 GA p Trp701X resulting in a quantitative CFH defectWe report a case of STECHUS with a quantitative CFH defect caused by a mutation of the CFH gene To the best of our knowledge very few cases of STECHUS with complement gene mutation have been reported but none to date with a CFH mutation We therefore suggest that complement analyses be performed in patients diagnosed with STECHUS in association with low C3 levels especially in patients presenting with severe or unexpected clinical symptoms

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