title: Rapid recovery of membrane cofactor protein (MCP; CD46) associated atypical haemolytic uraemic syndrome with plasma exchange.
abstract: Atypical haemolytic uraemic syndrome (aHUS), unlike typical HUS is due to complement dysregulation. At least one abnormality of the complement system can be identified in 70% of patients. aHUS is associated with a poor prognosis with 25% mortality and 50% progress to end-stage renal disease. Genetic abnormalities in the complement system, proteins including CFH, CFI, CFB, C3, CFHR1/3 and MCP (CD46) lead to uncontrolled complement activation in aHUS. We presented the second reported case of aHUS associated with a heterozygous c.191G > T mutation in exon 2 of MCP who responded rapidly to plasma exchange.
authors.affiliation: Department of General Medicine, NHS Grampian, Aberdeen, UK.
authors.forename: Victoria Louise
authors.initials: VL
authors.lastname: Reid
authors.forename: Adam
authors.initials: A
authors.lastname: Mullan
authors.forename: Lars-Peter
authors.initials: LP
authors.lastname: Erwig
mesh_terms: D000293:Adolescent; D065766:Atypical Hemolytic Uremic Syndrome; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D051916:Membrane Cofactor Protein / Q000235:genetics*; D009154:Mutation; D010951:Plasma Exchange; D020641:Polymorphism, Single Nucleotide
chemical_list: C497857:CD46 protein, human; D051916:Membrane Cofactor Protein