TY - JOUR
T1 - Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H
AU - Ohali, Melly
AU - Shalev, Hanna
AU - Schlesinger, Menachem
AU - Katz, Yitzhak
AU - Kachko, Leonid
AU - Carmi, Rivka
AU - Sofer, Shaul
AU - Landau, Daniel
PY - 1998/10
Y1 - 1998/10
N2 - 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.
AB - 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.
KW - Complement components
KW - Familial
KW - Hemolytic uremic syndrome
KW - Thrombotic microangiopathy
UR - http://www.scopus.com/inward/record.url?scp=0031693194&partnerID=8YFLogxK
U2 - 10.1007/s004670050515
DO - 10.1007/s004670050515
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AN - SCOPUS:0031693194
SN - 0931-041X
VL - 12
SP - 619
EP - 624
JO - Pediatric Nephrology
JF - Pediatric Nephrology
IS - 8
ER -