Hemolytic uremic syndrome, genetic

Laura Castellanos Reyes, Jeffrey M. Saland

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


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.

Original languageEnglish
Title of host publicationGlomerulonephritis
PublisherSpringer International Publishing
Number of pages13
ISBN (Electronic)9783319493794
ISBN (Print)9783319493787
StatePublished - 26 Feb 2019


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


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