Renal disease in a patient with hereditary complete deficiency of the fourth component of complement

Nephron. 1990;56(2):206-11. doi: 10.1159/000186134.

Abstract

Hereditary complete deficiency of the fourth component of complement (C4) is an extremely rare disorder with 17 cases reported so far. Twelve of these patients suffered from a systemic-lupus-erythematosus-like illness. The patient we here describe presented with severe Henoch-Schönlein purpura (HSP) at the age of 17. Immunofluorescence of a kidney biopsy showed granular deposits of IgG, IgA, IgM, C3 and fibrinogen in the mesangium and segmentally along the basement membrane. Six years later, the patient developed hypertension and nephrotic syndrome. Renal function deteriorated rapidly. He was on hemodialysis for 12 months and then received a cadaveric kidney graft. After 2 years of uncomplicated course, microhematuria and proteinuria developed. Immunofluorescence of a transplant biopsy was virtually identical to the pattern in the patient's own kidneys. We thus conclude that the patient had recurrence of his primary disease in the graft. Three and a half years after transplantation hemodialysis had to be restarted. This unique case supports the current view that deficiency of classical pathway components predisposes to the development of immune complex diseases and that the complement system is activated via the alternate pathway in HSP. Furthermore, we assume that complete C4 deficiency was the major cause for the recurrence and unfavorable outcome of HSP in the graft.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Complement C4 / deficiency*
  • Complement C4 / genetics
  • HLA Antigens / genetics
  • Humans
  • IgA Vasculitis / etiology
  • IgA Vasculitis / immunology*
  • IgA Vasculitis / surgery
  • Kidney / immunology
  • Kidney / pathology
  • Kidney Transplantation
  • Male
  • Recurrence

Substances

  • Complement C4
  • HLA Antigens