Table 1.

Summary of clinical and pathologic findings in the 195 Alport syndrome families with proven COL4A5 mutationa

VariableFamilies with Proven COL4A5 Mutation
aESRD, end-stage renal disease; GBM, glomerular basement membrane; GN, glomerulonephritis.
Consanguinity5 of 192 (2.5%)
Familial history171 of 193 (88.5%)
Hematuria191 of 193 (99%)
ESRD146 of 193 (76%)
Hearing loss156 of 189 (82.5%)
Ocular changes66 of 149 (44%)
Leiomyomatosis9 of 176 (5%)
Ultrastructural GBM changes115 of 117 (98%)
Immunohistochemical GBM changes23 of 27 (85%)
Transplantation106 of 195 (54%)
Posttransplantation anti-GBM GN3 of 80 (4%)