Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype.
We describe a familial, relapsing type of hemolytic uremic syndrome (HUS) that has a possible genetic origin. Three members of a family, aged between 15 months and 34 years, evidenced HUS. Histological examination disclosed thrombotic microangiopathy. Recurrences, persistent hypocomplementemia, and the HLA haplotype A3,B7 were a common factor. We studied 17 members of this family and found a low C3 level from activation of the alternative pathway in the haplotype A3,B7 carriers. These three patients with HUS probably had a congenital and hereditary condition in which immunologic factors played a role in its pathogenesis.
D000328:Adult; D002675:Child, Preschool; D003176:Complement C3 / Q000172:deficiency*; D005260:Female; D006680:HLA Antigens / Q000235:genetics*; D006463:Hemolytic-Uremic Syndrome / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006801:Humans; D007223:Infant; D007668:Kidney / Q000473:pathology; D008297:Male; D010375:Pedigree; D012008:Recurrence
D003176:Complement C3; D006680:HLA Antigens