Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation : A Case Report
Joint Authors
Sikorska, Dorota
Posnik, Bartlomiej
Oko, Andrzej
Pawlaczyk, Krzysztof
Schwermer, Krzysztof
Hoppe, Krzysztof
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-02-21
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Posnik, Bartlomiej& Sikorska, Dorota& Hoppe, Krzysztof& Schwermer, Krzysztof& Pawlaczyk, Krzysztof& Oko, Andrzej. 2013. Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation : A Case Report. Case Reports in Nephrology،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-494890
Modern Language Association (MLA)
Posnik, Bartlomiej…[et al.]. Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation : A Case Report. Case Reports in Nephrology No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-494890
American Medical Association (AMA)
Posnik, Bartlomiej& Sikorska, Dorota& Hoppe, Krzysztof& Schwermer, Krzysztof& Pawlaczyk, Krzysztof& Oko, Andrzej. Acute Progression of Adult-Onset Atypical Hemolytic-Uremic Syndrome due to CFH Mutation : A Case Report. Case Reports in Nephrology. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-494890
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-494890