Article
Human complement factor H deficiency associated with hemolytic uremic syndrome.
Journal of the American Society of Nephrology : JASN - 1 Dec 1998
Rougier N, Kazatchkine M D, Rougier J P, Fremeaux-Bacchi V, Blouin J, Deschenes G, Soto B, Baudouin V, Pautard B, Proesmans W, Weiss E, Weiss L
Abstract excerpt
This study reports on six cases of deficiency in the human complement regulatory protein Factor H (FH) in the context of an acute renal disease. Five of the cases were observed in children presenting with idiopathic hemolytic uremic syndrome (HUS). Two of the children exhibited a homozygous defic...
Topics
- Acute Disease
- Adolescent
- Blood Proteins
- Blotting, Southern
- Blotting, Western
- Child, Preschool
- Complement Factor H
- Complement System Proteins
- Family Health
- Female
- Genetic Predisposition to Disease
- Genotype
- Hemolytic-Uremic Syndrome
- Humans