Title: A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome
Authors: Geelen, Joyce
van den Dries, Koen
Roos, Anja
van de Kar, Nicole
de Kat Angelino, Corrie
Klasen, Ina
Monnens, Leo
van den Heuvel, Lambertus # ×
Issue Date: Mar-2007
Series Title: Pediatric nephrology (Berlin, Germany) vol:22 issue:3 pages:371-5
Abstract: A genetic predisposition involving complement regulatory genes has become evident in some patients with atypical HUS. In this paper, a patient with a heterozygous missense mutation in factor I (IF) is described. Although the serum level of IF was normal, a mild functional defect in the alternative pathway of complement could be demonstrated in the affected members of the family. After an episode of atypical HUS, chronic renal insufficiency started at the age of 15 months. Recurrence of HUS, with loss of the renal transplant, occurred twice in this patient. The recurrence of HUS in the graft was not reflected by haematological abnormalities (haemolysis, thrombocytopenia). One additional transplant was lost due to arterial thrombosis of the renal artery. This report confirms the gloomy outcome of renal transplants in patients with an IF deficiency. New therapies should be evaluated in these patients.
ISSN: 0931-041X
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Non-KU Leuven Association publications
× corresponding author
# (joint) last author

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