Hemolytic Uremic Syndrome, Genetic

  • Laura Castellanos Reyes
  • Jeffrey M. SalandEmail author
Living reference work entry


The nomenclature of atypical hemolytic uremic syndrome (aHUS) has undergone an evolution as rapid as the scientific understanding of the field during the last decade. Identification of many underlying genetic causes has increased understanding of the major mechanisms of disease. These defects principally, but not exclusively, involve the alternative pathway of complement. Important differences among the specific defects have impact on disease management, and clinical genetics plays a key role in that process. Untreated, aHUS frequently leads to end stage renal disease or death. Fortunately, understanding the major disease mechanisms has allowed development of effective treatment options.


Hemolytic uremic syndrome Complement Alternative pathway Hemolytic anemia Thrombocytopenia Thrombotic microangiopathy Factor H Eculizmuab Plasmapheresis Plasma exchange 


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of PediatricsThe Kravis Children’s Hospital at Mount Sinai, The Icahn School of Medicine at Mount SinaiNew YorkUSA
  2. 2.Department of PediatricsCohen Children’s Hospital, Donald and Barbara Zucker School of Medicine at Hofstra/NorthwellHempsteadUSA

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