Article
Recurrent haemolytic uraemic syndrome and acquired hypomorphic variant of the third component of complement.
Pediatric nephrology (Berlin, Germany) - 1 Nov 1990
Roodhooft A M, McLean R H, Elst E, Van Acker K J
Abstract excerpt
In a girl with recurrent haemolytic uraemic syndrome (HUS), persistently low serum levels of C3 were found. Analysis of complement phenotype revealed a hypomorphic variant of C3 Fast in the patient (C3fS) and a normal heterozygous pattern in both parents and the brother (C3FS). Other complement aberrations in the patient were: the presence of a null gene for C4A and C4B and low serum levels of factor H. The...
Topics
- Complement C3
- Complement C3b
- Complement C3d
- Complement C4
- Female
- Hemolytic-Uremic Syndrome
- Humans
- Infant
- Phenotype
- Recurrence