What is it about?
Two children of parents who are related to each other have been suffering from atypical haemolytic uraemic syndrome since their infancy
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Why is it important?
It is a new form of the atypicalHUS with autosomal recessive inheritance, which could be treated well for prophylactic fresh plasma or with fresh plasma in the relapse.
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This page is a summary of: Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome, Clinical Journal of the American Society of Nephrology, April 2015, American Society of Nephrology,
DOI: 10.2215/cjn.08520814.
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