title: Atypical haemolytic uraemic syndrome associated with aCD46mutation triggered byShigella flexneri.
abstract: We present a case of haemolytic uraemic syndrome (HUS) triggered byShigella flexneri. Of theShigellaspecies, onlyS. dysenteriaetype 1 is said to produce Shiga toxin and consequently cause HUS. Investigation of the complement system in this patient revealed aCD46mutation. In individuals with mutations in complement genes incomplete penetrance of atypical HUS (aHUS) is seen, suggesting that a trigger, such as infection, is required for disease to manifest. In an era of complement modulatory therapy for aHUS it is important to be alert to unusual presentations of diarrhoeal-associated disease.
authors.affiliation: Renal Services Centre , Freeman Hospital , Newcastle upon Tyne , UK.
authors.forename: Vicky
authors.initials: V
authors.lastname: Brocklebank
authors.affiliation: The Institute of Genetic Medicine , Newcastle University , Newcastle upon Tyne , UK.
authors.forename: Edwin K S
authors.initials: EK
authors.lastname: Wong
authors.affiliation: Renal Services Centre , Freeman Hospital , Newcastle upon Tyne , UK.
authors.forename: Rick
authors.initials: R
authors.lastname: Fielding
authors.affiliation: Renal Services Centre , Freeman Hospital , Newcastle upon Tyne , UK ; The Institute of Genetic Medicine , Newcastle University , Newcastle upon Tyne , UK.
authors.forename: Timothy H J
authors.initials: TH
authors.lastname: Goodship
authors.affiliation: Renal Services Centre , Freeman Hospital , Newcastle upon Tyne , UK ; The Institute of Genetic Medicine , Newcastle University , Newcastle upon Tyne , UK.
authors.forename: David
authors.initials: D
authors.lastname: Kavanagh
keywords: CD46; Shigella; complement; haemolytic uraemic syndrome; shiga toxin