RGD Reference Report - Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation. - Rat Genome Database

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Complement mutation-associated de novo thrombotic microangiopathy following kidney transplantation.

Authors: Le Quintrec, M  Lionet, A  Kamar, N  Karras, A  Barbier, S  Buchler, M  Fakhouri, F  Provost, F  Fridman, WH  Thervet, E  Legendre, C  Zuber, J  Fremeaux-Bacchi, V 
Citation: Le Quintrec M, etal., Am J Transplant. 2008 Aug;8(8):1694-701. doi: 10.1111/j.1600-6143.2008.02297.x. Epub 2008 Jun 28.
RGD ID: 11041165
Pubmed: PMID:18557729   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1600-6143.2008.02297.x   (Journal Full-text)

Mutations in one or more genes encoding complement-regulatory proteins predispose to atypical hemolytic uremic syndrome (aHUS) and its recurrence following kidney transplantation. We evaluated plasma complement level and performed a screening for mutations in genes encoding complement Factors H and I (CFH, CFI) and membrane cofactor protein (MCP) in 24 kidney transplant recipients experiencing de novo thrombotic microangiopathy (TMA). Six patients presented with low C3 and/or low Factor B levels suggestive complement alternative pathway. A mutation in the CFH or CFI gene was found in 7/24 patients (29%), two of whom had a mutation in both genes. On the contrary, no mutation was identified in a control kidney transplant patients group (n = 25) without TMA. Patients with or without mutations were similar with regard to clinical features. Eight out of 24 patients lost their graft within 1 year of posttransplantation including six patients with a CFH mutation or a decrease of C3 or CFB in plasma. To conclude, kidney transplant patients with de novo TMA exhibit an unexpectedly high frequency of CFH and CFI mutations. These results suggest that genetic abnormalities may represent risk factors for de novo TMA after kidney transplantation and raise the question of the best therapeutic strategy.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CFHHumanThrombotic Microangiopathies  IAGP associated with Kidney Failure more ...RGD 
CFIHumanThrombotic Microangiopathies  IAGP associated with Kidney Failure more ...RGD 
CfhRatThrombotic Microangiopathies  ISOCFH (Homo sapiens)associated with Kidney Failure more ...RGD 
CfhMouseThrombotic Microangiopathies  ISOCFH (Homo sapiens)associated with Kidney Failure more ...RGD 
CfiRatThrombotic Microangiopathies  ISOCFI (Homo sapiens)associated with Kidney Failure more ...RGD 
CfiMouseThrombotic Microangiopathies  ISOCFI (Homo sapiens)associated with Kidney Failure more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cfh  (complement factor H)
Cfi  (complement factor I)

Genes (Mus musculus)
Cfh  (complement component factor h)
Cfi  (complement component factor i)

Genes (Homo sapiens)
CFH  (complement factor H)
CFI  (complement factor I)


Additional Information