Table 3 Genotype–phenotype correlations of male patients with X-linked Alport syndrome.
Kidney and extrarenal phenotypes | Group 1 | Group 2 | Group 3 | P value |
|---|---|---|---|---|
Onset age, years | 4.1 (2.7–9.6) | 5.1 (1.6–22.9) | 4.8 (2.8–8.7) | 0.987 |
Age at last visit, years | 22.3 (15.6–28.5) | 19.4 (14.8–31.9) | 22.8 (17.7–26.9) | 0.998 |
Onset presentation | ||||
 AUA | 20 (48.8) | 10 (45.5) | 8 (25.8)b,c | 0.121 |
 Macroscopic hematuria | 14 (34.2) | 6 (27.3) | 11 (35.5) | 0.850 |
 Nephrotic syndrome | 4 (9.8) | 4 (18.2) | 10 (32.3)b,c | 0.056 |
 Chronic kidney disease | 3 (7.3) | 2 (9.1) | 2 (6.5) | 1.000 |
 Total | 41 (100) | 22 (100) | 31 (100) |  |
UPCR at initial visit (mg/mg) | 1.5 (0.4–3.4) | 0.9 (0.2–4.8) | 2.0 (0.8–4.2) | 0.413 |
Progression of kidney phenotypes | ||||
 Hematuria | 56/56 | 29/29 | 38/38 | 1.000 |
 Overt proteinuria* | 56/56 | 28/29 | 38/38 | 1.000 |
 Macroscopic hematuria | 20/35 (57.4) | 10/19 (52.6) | 19/31 (61.3) | 0.817 |
 Chronic kidney disease G5 | 28/55 (50.9) | 17/29 (58.6) | 25/37 (67.6) | 0.302 |
 Median kidney survival age, years (95% CI)** | 29.1 (23.5–34.7) | 29.5 (21.4–37.6) | 20.9 (15.4–26.3)b,c | 0.001 |
Use of RASi (n/n) | 37/38 | 19/19 | 29/30 | 1.000 |
Age starting RASi, years | 10.5 (4.9–16.2) | 9.6 (5.5–16.1) | 8.0 (5.0–10.7) | 0.174 |
Extrarenal phenotypes | ||||
 Sensorineural hearing loss | 24/50 (48.0)b | 19/27 (70.4) | 28/32 (87.5) |  < 0.001 |
 Median hearing survival age, years (95% CI)** | 31.8 (26.1–37.6)a,b | 18.6 (9.6–27.6) | 10.5 (9.1–12.0) |  < 0.001 |
 Ocular abnormalities | 1/24 (4.2)a,b | 8/22 (36.4) | 11/19 (57.9) |  < 0.001 |
