Table 2.
Clinical features in women with digenic Alport syndrome where one variant affects COL4A5 compared with features with one pathogenic COL4A5 variant only
| Feature | X-Linked Alport Syndrome in Women, n=349 (8) | X-Linked Alport Syndrome in Women, n=275 (44) | X-Linked Alport Syndrome in Women, n=24 (37) | Digenic Alport Syndrome in Women Including COL4A5 Variant, n=26 |
|---|---|---|---|---|
| Age range (median), yr | Not provided | 24 (0–92) | 8 (1–41) | 13 (3–55) |
| COL4A5 severe variant | 191/315 (61%) | 138 (50%) | 14/24 (58%) | 7 (27%) |
| COL4A3 | Not applicable | Not applicable | Not applicable | 15 |
| COL4A4 | Not applicable | Not applicable | Not applicable | 11 |
| Additional variant is severe | Not applicable | Not applicable | Not applicable | 7/26 (27%) |
| GBM lamellation, splitting, or basket-weave pattern | 20/28 (71%) | Not specified | 16/16 (basket weave in 8/16) | 5/6 (83%) |
| GBM thinning | 6/28 (21%) | Not specified | 16/16 | 1/6 (17%) |
| Abnormal collagen IV α3α4α5-immunohistochemistry | 7/9 (78%) | Not specified | Not specified | Not specified |
| Hematuria | 309 (96%) | 232 (98%) | 23/23 (100%) | |
| Proteinuria | 176/234 (75%) | 175 (73%) | 10/24 (42%) | 16/26 (62%) |
| Age at proteinuria onset (median), yr | Not specified | 7 | 13 (5–30) | 12 (3–45) |
| No. with kidney failure, n (%) | 51/288 (18) | 33 (12) | 1/24 (4) | 2/24 (8) |
| Age at kidney failure (median), yr | 38 (18–70) | 65 | 40 | 40, 44 |
| Hearing loss, n (%) | 239/303 (79) | 15 (6) | 4/24 (17) | 3/20 (15) |
| Ocular abnormalities | 57/162 (35%) | 4 (2%) | 0/24 (0%) | 1/14 (7%) |
GBM, glomerular basement membrane; No., number.