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Clinical and Developmental Immunology
Volume 2012 (2012), Article ID 370426, 9 pages
http://dx.doi.org/10.1155/2012/370426
Review Article

Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects

1Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA52242, USA
2Division of Nephrology, Department of Internal Medicine, Carver College of Medicine, University of Iowa, 5270 CBRB, Iowa City, IA 52242, USA
3Laboratory of Molecular Genetics, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan 20122, Italy
4Center for HUS Control, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan 20122, Italy

Received 6 July 2012; Accepted 24 September 2012

Academic Editor: Michael A. Flierl

Copyright © 2012 Fengxiao Bu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

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.