Table 1 Overall kidney phenotypes of the X-linked Alport syndrome patients.

Onset age, years

4.4 (2.7–9.7), n = 98

4.3 (2.3–10.0), n = 60

4.4 (2.5–10.0), n = 158

Age at last visit, years

22.2 (15.8–28.8), n = 90

19.1 (10.0–31.3), n = 60

20.8 (13.6–29.2), n = 150

Onset presentation

n = 94

n = 64

n = 158

 AUA

38 (40.4)

41 (64.1)

79 (50.0)

 Macroscopic hematuria

31 (33.0)

21 (32.8)

52 (32.9)

 Nephrotic syndrome

18^a (19.2)

0

18 (11.4)

 Chronic kidney disease

7 (7.5)

2 (3.1)

9 (5.7)

Progression of kidney phenotypes

 Hematuria

123/123 (100)

63/63 (100)

186/186 (100)

 Overt proteinuria^b

122/123 (99.2)

58/63 (92.1)

180/186 (96.8)

 Macroscopic hematuria

49/85 (57.7)

30/46 (65.2)

79/131 (60.3)

 Chronic kidney disease G5

70/121 (57.9)

14/68 (20.6)

84/189 (44.4)

 Median kidney survival age, years (95% CI)^c

25.0 (23.5–26.5), n = 120

50.2 (39.0–61.5), n = 68

29.5 (25.0–34.0), n = 188

Use of RASi

85/87 (97.7)

52/59 (88.1)

137/146 (93.8)

Age starting RASi, years

9.6 (5.9–14.5), n = 82

9.5 (3.1–19.2), n = 49

9.6 (5.2–15.7), n = 131

Extrarenal phenotypes

 Sensorineural hearing loss

71/109 (65.1)

10/71 (14.1)

81/180 (45.0)

 Median hearing survival age, years (95% CI)^c

19.9 (13.8–26.0), n = 89

53.4 (47.5–59.2), n = 56

32.0 (5.9–43.5), n = 145

 Ocular abnormalities

20/63 (31.7)

2/21 (9.5)

22/84 (26.2%)