Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects
Joint Authors
Gianluigi, Ardissino
Smith, Richard J. H.
Bu, Fengxiao
Borsa, Nicolo
Source
Journal of Immunology Research
Issue
Vol. 2012, Issue 2012 (31 Dec. 2011), pp.1-9, 9 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-11-08
Country of Publication
Egypt
No. of Pages
9
Main Subjects
Abstract EN
Atypical hemolytic uremic syndrome (aHUS) is a rare renal disease (two per one million in the USA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure.
Both sporadic (80% of cases) and familial (20% of cases) forms are recognized.
The study of familial aHUS has implicated genetic variation in multiple genes in the complement system in disease pathogenesis, helping to define the mechanism whereby complement dysregulation at the cell surface level leads to both sporadic and familial disease.
This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and prognosis of affected patients.
However, even with this bright outlook, major challenges remain to understand the complexity of aHUS at the genetic level.
It is possible that a more detailed picture of aHUS can be translated to an improved understanding of disease penetrance, which is highly variable, and response to therapy, both in the short and long terms.
American Psychological Association (APA)
Bu, Fengxiao& Borsa, Nicolo& Gianluigi, Ardissino& Smith, Richard J. H.. 2012. Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects. Journal of Immunology Research،Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-994417
Modern Language Association (MLA)
Bu, Fengxiao…[et al.]. Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects. Journal of Immunology Research Vol. 2012, no. 2012 (2011), pp.1-9.
https://search.emarefa.net/detail/BIM-994417
American Medical Association (AMA)
Bu, Fengxiao& Borsa, Nicolo& Gianluigi, Ardissino& Smith, Richard J. H.. Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects. Journal of Immunology Research. 2012. Vol. 2012, no. 2012, pp.1-9.
https://search.emarefa.net/detail/BIM-994417
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-994417