Table 2

Clinical characteristics of cohort

Total cohortSteroid-resistant nephrotic syndromeSteroid-sensitive nephrotic syndromeHaematuria/ Alport syndrome
Total patients3022551235
Male (%)165 (54.6)138 (54.1)10 (83.3)17 (48.6)
Age at onset/testing*in years (%)
 0–0.2532 (10.6)31 (12.2)1 (8.3)0 (0)
 0.25–116 (5.3)13 (5.1)0 (0)3 (8.6)
 1–12147 (48.7)125 (49.0)9 (75)13 (37.1)
 13–1845 (14.9)40 (15.7)1 (8.3)4 (11.4)
 >1862 (20.5)46 (18.0)1 (8.3)15 (42.9)
Family history positive/number with data available (%)58/183 (31.7)35/147 (23.8)1/8 (12.5)22/28 (78.6)
Consanguinity/number with data available (%)17/141 (12.1)13/117 (11.1)3/9 (33.3)1/15 (6.7)
Ethnicity (% of patients where data available)
 White99 (65.8)83 (66.4)3 (37.5)13 (76.5)
 Indian14 (9.4)12 (9.6)2 (25)0 (0)
 Black African/Caribbean7 (4.7)5 (4.0)1 (12.5)1 (5.9)
 Pakistani6 (4.0)3 (2.4)2 (25)1 (5.9)
 Bangladeshi2 (1.3)2 (1.6)0 (0)0 (0)
 Asian2 (1.3)2 (1.6)0 (0)0 (0)
 Middle Eastern2 (1.3)2 (1.6)0 (0)0 (0)
 Arabic2 (1.3)2 (1.6)0 (0)0 (0)
 Mixed3 (2.0)3 (2.4)0 (0)0 (0)
 Other13 (8.7)11 (8.8)0 (0)2 (11.8)
 No ethnicity data available152130418
Biopsy findings (% of patients where data available); number (%) with genetic diagnosis
 FSGS115 (71.9); 27 (23.5)109 (82.0); 26 (23.9)3 (33.3); 0 (0)3 (16.7); 1 (33.3)
 MCD11 (6.9); 0 (0)8 (6.0); 0 (0)3 (33.3); 0 (0)0 (0)
 Mesangioproliferative GN3 (1.9); 0 (0)3 (2.3); 0 (0)0 (0)0 (0)
 DMS5 (3.1); 2 (40.0)4 (3.0); 2 (50.0)1 (11.1); 0 (0)0 (0)
 Finnish type2 (1.3); 2 (100)2 (1.5); 2 (100)0 (0)0 (0)
 Alport8 (5.0); 7 (87.5)0 (0)0 (0)8 (44.4); 7 (87.5)
 TBMN4 (2.5); 1 (25.0)0 (0)0 (0)4 (22.2); 1 (25.0)
 Other12 (7.5); 3 (25.0)7 (5.3); 3 (42.9)2 (22.2); 0 (0)3 (16.7); 0 (0)
 No biopsy data available/not biopsied142122317
Total with likely pathogenic variants (%)71 (23.5)54 (21.2)0 (0)17 (48.6)
  • *For patients where no data were available for age at disease onset, the age at genetic testing was used.

  • DMS, diffuse mesangial sclerosis; FSGS, focal segmental glomerulosclerosis; GN, glomerulonephritis; MCD, minimal change disease; TBMN, thin basement membrane nephropathy.