Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H.

Authors: Ohali, M  Shalev, H  Schlesinger, M  Katz, Y  Kachko, L  Carmi, R  Sofer, S  Landau, D 
Citation: Ohali M, etal., Pediatr Nephrol. 1998 Oct;12(8):619-24.
Pubmed: (View Article at PubMed) PMID:9811382

We describe the clinical course, complement components, and pathological findings of 10 infants with autosomal recessive hemolytic uremic syndrome (HUS). All patients were members of one extended highly inbred Bedouin kindred. The median age of presentation was 2 weeks (range 1-20 weeks). Eight patients died, 2 patients are alive, on dialysis. Renal biopsies revealed thrombotic microangiopathy with a predominant early arteriolar involvement and subsequent development of ischemic glomerular changes. Immunofluorescence was positive for C3 in glomeruli. All patients had low complement components levels during and between relapses, and in some this was evident soon after birth and prior to the onset of symptoms. This deficiency could not be normalized by repeated plasma transfusions. Biosynthetic labelling of patients' fibroblasts demonstrated normal rates of C3 protein synthesis. Serum factor H levels were greatly decreased or absent in 4 patients tested and moderately decreased in 15 of 23 healthy unaffected siblings and patients. This defect may cause complement activation and consumption, possibly at the endothelial cell level.


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CRRD Object Information
CRRD ID: 11041172
Created: 2016-03-23
Species: All species
Last Modified: 2016-03-23
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.