title: Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation: A Case Report.
abstract: Atypical hemolytic-uremic syndrome (aHUS), unlike typical HUS, is not due to bacteria but rather to an idiopathic or genetic cause that promotes dysregulation of the alternative complement pathway. It leads to hemolytic anemia, thrombocytopenia, and renal impairment. Although aHUS secondary to a genetic mutation is relatively rare, when occurring due to a mutation in Factor H (CFH), it usually presents with younger onset and has a more severe course, which in the majority ends with end-stage renal failure. Paradoxically to most available data, our case features acute aHUS due to a CFH mutation with late onset (38-year-old) and rapid progression to end-stage renal disease. Due to current data indicating a high risk of graft failure in such patients, the diagnosis of aHUS secondary to a genetic cause has disqualified our patient from a living (family) donor renal transplantation and left her with no other option but to begin permanent renal replacement therapy.
authors.affiliation: Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
authors.forename: Bartlomiej
authors.identifier: 0000-0001-9818-9144
authors.initials: B
authors.lastname: Posnik
authors.affiliation: Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Sikorska
authors.affiliation: Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Hoppe
authors.affiliation: Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Schwermer
authors.affiliation: Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
authors.forename: Krzysztof
authors.identifier: 0000-0001-6237-0814
authors.initials: K
authors.lastname: Pawlaczyk
authors.affiliation: Department of Nephrology, Transplantology and Internal Medicine, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
authors.forename: Andrzej
authors.initials: A
authors.lastname: Oko