title: Thrombotic microangiopathy: focus on atypical hemolytic uremic syndrome.
abstract: Thrombotic microangiopathies (TMA) such as atypical hemolytic uremic syndrome (aHUS) have evolved from rare, fulminant childhood afflictions to uncommon diseases with acute and chronic phases involving both children and adults. Breakthroughs in complement and coagulation regulation have allowed redefinition of specific entities despite substantial phenotypic mimicry. Reconciliation of phenotypes and delivery of life saving therapies require a multidisciplinary team of experts. The purpose of this review is to describe advances in the molecular pathophysiology of aHUS and to share the 2014 experience of the multidisciplinary Johns Hopkins TMA Registry in applying diagnostic assays, reporting disease associations, and genetic testing.
authors.affiliation: Division of Nephrology, Department of Medicine, The Johns Hopkins University School of Medicine, 1830 East Monument Street, Room 416, Baltimore, MD 21205, USA. Electronic address: jsperati@jhmi.edu.
authors.forename: C John
authors.initials: CJ
authors.lastname: Sperati
authors.affiliation: Division of Hematology, Department of Medicine, The Johns Hopkins University School of Medicine, 720 Rutland Avenue, Ross 1025, Baltimore, MD 21205, USA.
authors.forename: Alison R
authors.initials: AR
authors.lastname: Moliterno
mesh_terms: D051722:ADAM Proteins / Q000235:genetics / Q000378:metabolism; D000071120:ADAMTS13 Protein; D000328:Adult; D065766:Atypical Hemolytic Uremic Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D002648:Child; D003165:Complement System Proteins / Q000235:genetics / Q000378:metabolism; D003937:Diagnosis, Differential; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D057049:Thrombotic Microangiopathies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*
chemical_list: D003165:Complement System Proteins; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: Atypical hemolytic uremic syndrome; Hemolytic uremic syndrome; Thrombotic microangiopathy; Thrombotic thrombocytopenic purpura