Journal article
A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome
Nephrology, dialysis, transplantation, Vol.26(2), pp.739-741
02/2011
DOI: 10.1093/ndt/gfq658
PMCID: PMC6937010
PMID: 20974643
Abstract
Atypical hemolytic uremic syndrome (aHUS) is a complex complement-mediated disease that progresses to end-stage renal failure (ESRF) in 50% of cases. Dysregulation of the alternative pathway (AP) of the complement cascade manifests as microangiopathic anaemia and thrombocytopenia. Multiple genes in the AP have been implicated in disease pathogenesis. Here, we report the clinical presentation of an affected patient that was inconsistent with genotype–phenotype data for carriers of
CD46
mutations. Tests of AP function in this patient suggested additional genetic factors, and in-depth studies revealed a de novo heterozygous deletion that creates a novel CFH/CFHR1 fusion protein.
Details
- Title: Subtitle
- A novel deletion in the RCA gene cluster causes atypical hemolytic uremic syndrome
- Creators
- Tara K Maga - University of IowaNicole C Meyer - University of IowaCraig Belsha - Saint Louis University School of MedicineCarla J Nishimura - University of IowaYuzhou Zhang - University of IowaRichard J. H Smith - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Nephrology, dialysis, transplantation, Vol.26(2), pp.739-741
- DOI
- 10.1093/ndt/gfq658
- PMID
- 20974643
- PMCID
- PMC6937010
- NLM abbreviation
- Nephrol Dial Transplant
- ISSN
- 0931-0509
- eISSN
- 1460-2385
- Publisher
- Oxford University Press
- Grant note
- ; ;
- Language
- English
- Date published
- 02/2011
- 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
- 9984006337902771
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