Rapid recovery of membrane cofactor protein (MCP; CD46) associated atypical haemolytic uraemic syndrome with plasma exchange

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...

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Published inBMJ case reports Vol. 2013; p. bcr2013200980
Main Authors Reid, Victoria Louise, Mullan, Adam, Erwig, Lars-Peter
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group LTD 04.09.2013
BMJ Publishing Group
SeriesCase Report
Subjects
Adolescent
Anemia
Apheresis
Atypical Hemolytic Uremic Syndrome
Blood platelets
Hematuria
Hemodialysis
Hemolytic-Uremic Syndrome - genetics
Hemolytic-Uremic Syndrome - therapy
Humans
Kidney diseases
Male
Membrane Cofactor Protein - genetics
Mutation
Plasma
Plasma Exchange
Polymorphism, Single Nucleotide
Proteins
Rare Disease
Steroids
Streptococcus infections
United Kingdom
White
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2013-200980