Alport's syndrome--an autoaggressive immunopathy?

Hereditary chronic nephritis, or Alport's syndrome, is a pathologically and clinically very inhomogeneous disease, the main features of which are hereditary nephropathy combined with deafness of varying degrees. Our experience with 18 patients from 6 families demonstrates the variability in the manifestation of the clinical defect syndromes with oculo-oto renal involvement. In the majority of our cases, terminal renal failure was diagnosed. 7 patients are undergoing chronic intermittent hemodialysis, and 4 patients survive with a kidney transplant. Following kidney transplantation, histological changes in the sense of a recurrent glomerulonephritis were demonstrated in some cases. The existence of prevailing histocompatibility antigen DR 7 serves as a clue to the possibility of an underlying immunologic disorder. We calculate a relative risk of 6.0. The HLA-D region controls the expression of surface antigens. They are responsible for the communication with lymphoid cells. Defect immune response genes in combination with missing reaction to autoantibodies against glomerular basement membrane may lead to an increase of susceptibility for the disease.