Journal article
Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects
Clinical & developmental immunology, Vol.2012, pp.370426-9
2012
DOI: 10.1155/2012/370426
PMCID: PMC3509654
PMID: 23251215
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.
Details
- Title: Subtitle
- Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects
- Creators
- Fengxiao Bu - Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA52242, USANicolo Borsa - Laboratory of Molecular Genetics, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan 20122, ItalyArdissino Gianluigi - Center for HUS Control, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan 20122, ItalyRichard J. H Smith - Interdepartmental PhD Program in Genetics, University of Iowa, Iowa City, IA52242, USA
- Resource Type
- Journal article
- Publication Details
- Clinical & developmental immunology, Vol.2012, pp.370426-9
- DOI
- 10.1155/2012/370426
- PMID
- 23251215
- PMCID
- PMC3509654
- NLM abbreviation
- Clin Dev Immunol
- ISSN
- 1740-2522
- eISSN
- 1740-2530
- Publisher
- Hindawi Publishing Corporation
- Grant note
- name: Foundation for Children with Atypical Hemolytic Uremic Syndrome
- Language
- English
- Date published
- 2012
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
- Record Identifier
- 9984006433302771
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