title: New combined CFH/MCP mutations and a rare clinical course in atypical haemolytic uraemic syndrome.
abstract: 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.
authors.affiliation: Serviço Nefrologia , Centro Hospitalar Vila Nova de Gaia/Espinho , Rua Conceição Fernandes, Vila Nova de Gaia , Portugal.
authors.forename: Daniela
authors.initials: D
authors.lastname: Lopes
authors.affiliation: Serviço Nefrologia , Centro Hospitalar Vila Nova de Gaia/Espinho , Rua Conceição Fernandes, Vila Nova de Gaia , Portugal.
authors.forename: Ana Marta
authors.initials: AM
authors.lastname: Gomes
authors.affiliation: Serviço Nefrologia , Centro Hospitalar Vila Nova de Gaia/Espinho , Rua Conceição Fernandes, Vila Nova de Gaia , Portugal.
authors.forename: Cátia
authors.initials: C
authors.lastname: Cunha
authors.affiliation: Serviço Hematologia Clínica, Unidade de Trombose e Hemostase , Centro Hospitalar e Universitário de Coimbra , Coimbra , Portugal.
authors.forename: Catarina Silva
authors.initials: CS
authors.lastname: Pinto
authors.affiliation: Serviço Hematologia Clínica, Unidade de Trombose e Hemostase , Centro Hospitalar e Universitário de Coimbra , Coimbra , Portugal.
authors.forename: Teresa
authors.initials: T
authors.lastname: Fidalgo
authors.affiliation: Serviço Nefrologia , Centro Hospitalar Vila Nova de Gaia/Espinho , Rua Conceição Fernandes, Vila Nova de Gaia , Portugal.
authors.forename: João Carlos
authors.initials: JC
authors.lastname: Fernandes
keywords: atypical haemolytic uraemic syndrome; membrane cofactor protein; protein factor H