Linked Life Data

20513133

Source:http://linkedlifedata.com/resource/pubmed/id/20513133

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
2010-5-31
pubmed:abstractText
Atypical hemolytic uremic syndrome (aHUS) is characterized by acute renal failure, thrombocytopenia and microangiopathic hemolytic anemia, and occurs with an estimated incidence in the USA of 2 per 1,000,000. Disease pathogenesis is related to dysregulation of the alternative pathway (AP) of the complement cascade at the level of the cell membrane secondary to mutations in a number of complement genes including complement factor H (CFH), complement factor H-related 5 (CFHR5), complement factor I (CFI), CD46 (MCP), complement factor B (CFB), complement component 3 (C3) and thrombomodulin (THBD). Since aHUS is rare, mutation rate data in large patient cohorts are scarce. Here we present the first cohort of American patients in whom mutation screening was completed on all genes currently implicated in aHUS. In addition to identifying a number of novel variants, we provide information on the relative frequency of mutations in these genes in an American aHUS population. Twelve percent (12%) of patients carrying disease-associated genetic variants segregated mutations in more than one gene mandating comprehensive genetic testing in the diagnosis and management of these patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1098-1004
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
31
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
E1445-60
pubmed:meshHeading
pubmed-meshheading:20513133-Antigens, CD46, pubmed-meshheading:20513133-Cohort Studies, pubmed-meshheading:20513133-Complement C3, pubmed-meshheading:20513133-Complement Factor B, pubmed-meshheading:20513133-Complement Factor H, pubmed-meshheading:20513133-Complement Factor I, pubmed-meshheading:20513133-Complement Pathway, Alternative, pubmed-meshheading:20513133-Complement System Proteins, pubmed-meshheading:20513133-DNA Mutational Analysis, pubmed-meshheading:20513133-Gene Frequency, pubmed-meshheading:20513133-Genetic Predisposition to Disease, pubmed-meshheading:20513133-Hemolytic-Uremic Syndrome, pubmed-meshheading:20513133-Humans, pubmed-meshheading:20513133-Incidence, pubmed-meshheading:20513133-Mutation, pubmed-meshheading:20513133-Thrombomodulin, pubmed-meshheading:20513133-United States
pubmed:year
2010
pubmed:articleTitle
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome.
pubmed:affiliation
Interdepartmental PhD Program in Genetics, Division of Nephrology, Carver College of Medicine, University of Iowa, Iowa City, IA 52242, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't