Table 4 Genotype–phenotype correlations of female patients with X-linked Alport syndrome.
Kidney and extrarenal phenotypes | Group 1 | Group 2 | Group 3 | P value |
|---|---|---|---|---|
Onset age, years | 5.4 (2.4–16.1) | 7.6 (4.1–12.2) | 2.4 (1.4–4.4)a,b | 0.018 |
Age at last visit, years | 20.1 (10.2–40.9) | 20.3 (11.9–26.4) | 14.2 (9.1–24.4) | 0.217 |
Onset presentation | ||||
 AUA | 21 (65.6) | 13 (86.7) | 7 (41.2)b | 0.020 |
 Macroscopic hematuria | 10 (31.3) | 2 (13.3) | 9 (52.9)b | 0.064 |
 Chronic kidney disease | 1 (3.1) | 0 | 1 (5.9) | 1.000 |
 Total | 32 | 15 | 17 |  |
Progression of kidney phenotypes | ||||
 Hematuria | 33/33 (100) | 15/15 (100) | 17/17 (100) | 1.000 |
 Overt proteinuria* | 29/30 (96.7) | 10/13 (76.9) | 19/20 (95.0) | 0.120 |
 Macroscopic hematuria | 14/21 (66.7) | 4/9 (44.4) | 12/16 (75.0) | 0.367 |
 Chronic kidney disease G5 | 4/30 (13.3) | 3/16 (18.8) | 7/22 (31.8) | 0.318 |
 Median kidney survival age, years (95% CI)** | 78.2 (NE) | 55.3 (NE) | 37.0 (19.8–54.2)a | 0.022 |
Use of RASi | 26/29 (89.7) | 10/13 (76.9) | 16/17 (94.1) | 0.436 |
Age starting RASi, years | 10.2 (4.7–30.8) | 10.0 (7.4–15.7) | 5.0 (2.5–10.9) | 0.133 |
Extrarenal phenotypes | ||||
 Sensorineural hearing loss | 4/33 (12.1) | 2/15 (13.3) | 4/23 (17.4) | 0.904 |
 Median hearing survival age, years (95% CI)** | 55.0 (51.5–58.5) | 42.2 (NE) | NE | 0.349 |
 Ocular abnormalities | 2/10 (20) | 0/6 (0) | 0/5 (0) | 0.476 |
