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Atypical hemolytic uremic syndrome : update on the complement system and what is new

Hirt-Minkowski, Patricia and Dickenmann, Michael and Schifferli, Jürg A.. (2010) Atypical hemolytic uremic syndrome : update on the complement system and what is new. Nephron Clinical Practice, 114 (4). c219-c235.

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Official URL: http://edoc.unibas.ch/dok/A6007720

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Abstract

Atypical hemolytic uremic syndrome (aHUS) is a rare disease of microangiopathic hemolytic anemia, thrombocytopenia, and predominant renal impairment. It is characterized by the absence of Shiga toxin-producing bacteria as a triggering factor. During the last decade, aHUS has been demonstrated to be a disorder of the complement alternative pathway dysregulation, as there is a growing list of mutations and polymorphisms in the genes encoding the complement regulatory proteins that alone or in combination may lead to aHUS. Approximately 60% of aHUS patients have so-called 'loss-of-function' mutations in the genes encoding the complement regulatory proteins, which normally protect host cells from complement activation: complement factor H (CFH), factor I (CFI) and membrane cofactor protein (MCP or CD46), or have 'gain-of-function' mutations in the genes encoding the complement factor B or C3. In addition, approximately 10% of aHUS patients have a functional CFH deficiency due to anti-CFH antibodies. Recent advances in understanding the pathogenesis of aHUS have led to a revised classification of the syndrome. Normal plasma levels of CFH and CFI do not preclude the presence of a mutation in these genes. Further, genotype-phenotype correlations of aHUS have clinical significance in predicting renal recovery and transplant outcome. Therefore, it is important to make a comprehensive analysis and perform genetic screening of the complement system in patients with aHUS to allow a more precise approach, especially before transplantation. This may also provide opportunities for more specific treatments in the near future, as complement inhibition could represent a therapeutic target in these patients who have a considerably poor prognosis in terms of both mortality and progression to end-stage renal disease and a great risk of disease recurrence after transplantation.
Faculties and Departments:03 Faculty of Medicine > Bereich Medizinische Fächer (Klinik) > Nephrologie > Transplantationsimmunologie und Nephrologie (Steiger)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Medizinische Fächer (Klinik) > Nephrologie > Transplantationsimmunologie und Nephrologie (Steiger)
03 Faculty of Medicine > Departement Biomedizin > Former Units at DBM > Immunonephrology (Schifferli)
UniBasel Contributors:Schifferli, Jürg A. and Dickenmann, Michael Jan
Item Type:Article, refereed
Article Subtype:Further Journal Contribution
Bibsysno:Link to catalogue
Publisher:Karger
e-ISSN:1660-2110
Note:Publication type according to Uni Basel Research Database: Journal item
Language:English
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Last Modified:23 Oct 2017 14:17
Deposited On:18 Jul 2014 09:10

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