What is it about?
This molecular study approach found in this patient a C3-combined variant: a pathogenic missense mutation in C3, c.1775G>A, p.Arg592Gln; a benign missense variant of CD46, c.686G>A, p.Arg229Gln; and also had the risk haplotypes MCPggaac and CFH-H3. All variants were in the heterozygous state.
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Why is it important?
Our patient illustrates the complexity of aHUS, which depends on multiple predisposing factors: gene mutations, polymorphisms and environmental precipitating factors.
Perspectives
In the future, better understanding of the pathophysiology will have implications in the diagnosis, treatment and prognosis of these patients.
Dr Teresa Fidalgo
Read the Original
This page is a summary of: Atypical Hemolytic Uremic Syndrome: Atypical Course and Atypical Mutations Combination, Open Access Journal of Urology & Nephrology, January 2017, Medwin Publishers,
DOI: 10.23880/oajun-16000114.
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