Genetic disorders in complement (regulating) genes in patients with atypical haemolytic uraemic syndrome (aHUS).

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Publication year
2010Source
Nephrology, Dialysis, Transplantation, 25, 7, (2010), pp. 2195-202ISSN
Annotation
01 juli 2010
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Pulmonary Diseases
Pharmacology-Toxicology
Physiology
Journal title
Nephrology, Dialysis, Transplantation
Volume
vol. 25
Issue
iss. 7
Page start
p. 2195
Page end
p. 202
Subject
IGMD 9: Renal disorder; NCMLS 4: Energy and redox metabolismAbstract
BACKGROUND: Atypical HUS (aHUS) is thought to be caused by predisposing mutations in genes encoding complement (regulating) proteins, such as Factor H (CFH), Factor I (IF), membrane co-factor protein (MCP) and Factor B (FB), or by auto-antibodies against CFH (alphaFH) in combination with a homozygous polymorphic deletion of the genes encoding Complement Factor H-related 1 and 3 (DeltaCFHR1/3). The clinical impact of this knowledge is high, as it might be a prognostic factor for the outcome of renal transplantations and kidney donations. METHODS: Mutational screening, by means of PCR and DNA sequencing, is performed in the above-mentioned genes in a group of 72 aHUS patients. Also, the presence of alphaFH and DeltaCFHR1/3 was tested in patients and controls. RESULTS: In 23 patients, a genetic aberration in at least one gene or the presence of alphaFH was found. A heterozygous mutation was observed in CFH in nine patients, in IF in seven patients and in MCP in three patients. No mutations were observed in FB. Seven patients presented alphaFH, of whom five also carried DeltaCFHR1/3. Three patients carried a combined mutation (two patients: IF and MCP; one patient: IF, alphaFH and DeltaCFHR1/3). A significant difference between patients and controls was detected for the presence of all three associated polymorphisms in CFH. CONCLUSIONS: Genetic abnormalities or the presence of alphaFH were detected in 31.9% of the aHUS patients. Furthermore, bigenic mutations were present, indicating that routine DNA mutation analysis of all complement factors associated with aHUS is important.
This item appears in the following Collection(s)
- Academic publications [204994]
- Electronic publications [103240]
- Faculty of Medical Sciences [81051]
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