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New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome
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Orientador(es)
Resumo(s)
Atypical haemolytic uraemic syndrome (aHUS) is a rare, life-threatening, chronic, genetic disease due to uncontrolled alternative pathway complement activation. In this report, we discuss the case of a heterozygous carrier of a mutation on both factor H and membrane cofactor protein, who persistently presents haemolytic anaemia without need for blood transfusions, normal platelet count, normal renal function and no signs or symptoms of organ injury due to thrombotic microangiopathy 4 years after the diagnosis of aHUS.
Descrição
Palavras-chave
Síndrome Hemolítico-Urémico Mutação/genética
Contexto Educativo
Citação
Clin Kidney J. 2015 Dec;8(6):695-7.