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Rigshospitalet - en del af Københavns Universitetshospital
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Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

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Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. Sequence analyses showed homozygosity for a novel CFH missense mutation (Pro139Ser) associated with severely decreased CFH plasma concentration (
OriginalsprogEngelsk
TidsskriftGenes and Immunity
Vol/bind12
Udgave nummer2
Sider (fra-til)90-9
Antal sider10
ISSN1466-4879
DOI
StatusUdgivet - 2011

ID: 33143342