Autor(es): Lopes, D ; Gomes, AM ; Cunha, C ; Pinto, CS ; Fidalgo, T ; Fernandes, JC
Data: 2015
Identificador Persistente: http://hdl.handle.net/10400.4/2180
Origem: Repositório do Centro Hospitalar e Universitário de Coimbra
Assunto(s): Síndrome Hemolítico-Urémico; Mutação/genética
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.
