Familial hypocomplementemic hemolytic uremic syndrome with HLA-A3,B7 haplotype

JAMA. 1981 Feb 13;245(6):602-4.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child, Preschool
  • Complement C3 / deficiency*
  • Female
  • HLA Antigens / genetics*
  • Hemolytic-Uremic Syndrome / genetics*
  • Hemolytic-Uremic Syndrome / immunology
  • Hemolytic-Uremic Syndrome / pathology
  • Humans
  • Infant
  • Kidney / pathology
  • Male
  • Pedigree
  • Recurrence

Substances

  • Complement C3
  • HLA Antigens