A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
SourcePediatric Nephrology, 22, 3, (2007), pp. 371-375
Article / Letter to editor
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Paediatrics - OUD tm 2017
Blood Transfusion and Transplantation Immunology
SubjectIGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; NCMLS 1: Immunity, infection and tissue repair; NCMLS 4: Energy and redox metabolism; ONCOL 3: Translational research; UMCN 1.4: Immunotherapy, gene therapy and transplantation; UMCN 1.5: Interventional oncology; UMCN 5.4: Renal disorders
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.
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