HLA studies in a family with hereditary nephritis - abstract

ABSTRACT

In 1968, a four-year-old female (the index case) presented with post-streptococcal acute glomerulonephritis (PSAGN). A family visit was made and several members were found to have proteinuria and haematuria without evidence of PSAGN. This family was followed for over 20 years during which time six male members developed chronic renal disease (CRD). Three have since died and two of the three alive are now on dialysis. Mild proteinuria and/or haematuria has been found in other family members of the F and F 2 generations comprising 47 individuals. These observations led to the hypothesis that certain HLA antigens and/or haplotypes are associated with development of CRD in this family. HLA-A,B,C and DR typing were done on 25 available family members, 22 being absent for various reasons including migration. The studies revealed a homozygous condition for HLA-DR2 in the mother, resulting in the inheritance of DR2 in all siblings of the mother. Four of the five female offspring have been studied but only two have had proteinuria and haematuria. However, all male members of the f1 generation had copious proteinuria and three of the five studied had severe haematuria. More importantly, several members of the F 2 generation have already developed mild proteinuria and one female has severe haematuria though they are all clinically normal. Since it has been suggested that males of affected females tend to develop CRD, male offspring of the F 2 generation will be carefully monitored in future (AU)