A missense mutation in factor I (IF) predisposes to atypical haemolytic uraemic syndrome.
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.
Geelen
Joyce
J
Department of Paediatric Nephrology, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands. j.geelen@cukz.umcn.nl
van den Dries
Koen
K
Roos
Anja
A
van de Kar
Nicole
N
de Kat Angelino
Corrie
C
Klasen
Ina
I
Monnens
Leo
L
van den Heuvel
Lambertus
L
D003176:Complement C3 / Q000032:analysis; D003181:Complement C4 / Q000032:analysis; D017244:Complement Factor I / Q000235:genetics*; D003170:Complement Pathway, Alternative; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000601:surgery; D006579:Heterozygote; D006801:Humans; D007223:Infant; D016030:Kidney Transplantation; D008297:Male; D020125:Mutation, Missense; D012008:Recurrence; D012086:Reoperation
D003176:Complement C3; D003181:Complement C4; D017244:Complement Factor I