On the basis of the positive family history record, we investigated if the same variant was shared by other affected family members, and we were interested to find that the same PAX2 pathogenic mutations were shared by affected family members, even if heterogeneous phenotypes clinically diagnosed as FSGS, Membranoproliferative glomerulonephritis type II (MPGN II) and unknown ESRD (Table 4) presented themselves. This evidence concerns the gene PAX2 and focal segmental glomerulosclerosis.