Table 2 Characteristics of registry cohort

No. of diagnoses (Orphacodes)

48

21

60

35

20

9

6

203

No. of patients (N (%))

1781 (24.1%)

1406 (19.0%)

2816 (38.1%)

680 (9.2%)

302 (4.1%)

321 (4.3%)

79 (1.1%)

7385 (100%)

Male sex (%)

68.5

47.3

56.5

52.4

57.6

51.1

49.3

57.0

Ethnicity (%)-Caucasian/Arabic/African/East Asian/other

86/8/3/1/2

93/4/1/1/1

90/5/2/2/1

79/9/2/1/9

81/13/1/2/3

90/4/3/0/3

86/9/0/0/5

87/6/2/1/4

Family history of kidney diseases (%)

5.3

46.1

11.4

21.7

16.9

3.4

11.4

16.8

Median (IQR) age at first signs or symptoms (years)

0.0 (0.0–0.2)

11.1 (0.6–28.0)

11.6 (3.8–41.0)

1.7 (0.2–9.2)

0.8 (0.1–2.9)

3.3 (1.3–6.9)

1.2 (0.3–4-4)

14.1(7.4–31.7)

Median (IQR) age at enrolment (years)

8.4 (3.3–13.9)

21.4 (11.4–46.8)

17.8 (10.7–50.9)

12.3 (6.6–18.7)

15.0 (7.8–24.5)

8.9 (4.7–14.9)

11.0 (6.4–14.9)

4.8 (0.3–18.5)

Genetic testing performed (% of all cases)

11.3

38

17.3

62.1

61.9

22.1

31.6

26.1

Genetic testing performed (% of hereditary disease cases)

21.2

38

60.7

65.2

61.9

72.3

58.5

46.3

Genetically confirmed diagnosis (% of all cases)

5.3

31.9

12.1

54.7

57.9

15.9

29.1

20.4

Genetically confirmed diagnosis (% of hereditary disease cases)

11.2

31.9

52.1

57.6

57.9

56.6

56.1

39.7

Genetically confirmed diagnosis (% of hereditary disease cases who underwent genetic screening)

52.0

84.1

85.5

88.2

93.6

78.3

95.8

85.8

Histopathologically confirmed diagnosis (%)

0.8

1.1

57.1

2.2

6.6

14.0

0

23.2

Disease stage (%) -CKD 1/2/3/4/5/Dialysis/Transplantation

36/23/13/5/2/3/17

36/21/15/7/7/4/10

52/19/11/4/1/3/9

68/21/8/1/1/1/1

41/22/14/5/1/5/13

43/22/11/5/2/4/13

80/14/4/0/0/0/3

47/20/12/5/2/3/11