Table 1.
Characteristics of individuals with ADTKD-UMOD who were genetically or historically affected, by cohort
| Characteristic | WF cohort |
International cohort | P value | ||
|---|---|---|---|---|---|
| ADTKD-UMOD genotyped | ADTKD-UMOD historic | All | |||
| ADTKD-UMOD genotyped | n = 400 | 400 (61%) | 322 (98%) | ||
| ADTKD-UMOD historic | n = 254 | 254 (39%) | 7 (2%) | ||
| Number of individuals who reached ESKD, n (%) | 159 (40) 4 (1) unknown |
144 (57) 77 (30) unknown |
303 (53) 81 (12) unknown |
123 (37) 79 (24) unknown |
0.33a |
| Age of ESKD | 46.37 | 51.17 | 48.65 | 48.88 | 0.88 |
| Male gender, n (%) | 180 (48) | 145 (57) | 325 (50) | 162 (49) 2 (1) unknown |
0.20b |
| Race, n (%) | <0.0001b | ||||
| White | 380 (95) | 247 (97) | 627 (96) | 271 (82) | |
| Black | 3 (1) | 0 | 3 (0.5) | 0 | |
| Hispanic | 0 | 0 | 0 | 0 | |
| Asian/Pacific Islander | 11 (3) | 5 (2) | 16 (2) | 0 | |
| From India | 1 (0.3) | 1 (0.4) | 2 (0.3) | 0 | |
| Other | 0 | 0 | 0 | 0 | |
| Unreported | 5 (1) | 1 (0.4) | 6 (1) | 58 (18) | |
| Ethnicity, n (%) | <0.0001b | ||||
| Hispanic or Latino | 6 (2) | 0 | 6 (1) | 24 (7) | |
| Not Hispanic or Latino | 374 (94) | 239 (94) | 613 (94) | 251 (76) | |
| Other | 8 (2) | 5 (2) | 13 (2) | 0 | |
| Unreported | 12 (3) | 10 (4) | 22 (3) | 54 (16) | |
| Smoking, n (%) | <0.0001a,c | ||||
| Never | 228 (57) | 8 (3) | 236 (36) | ||
| Current | 23 (6) | 1 (0.4) | 24 (4) | ||
| Former | 69 (17) | 5 (2) | 74 (11) | ||
| Uncertain | 80 (20) | 240 (94) | 320 (49) | ||
| Weight (kg) | 0.24c | ||||
| Male and female | 76.9 ± 19.9 (n = 287) | 83.0 ± 22.2 (n = 20) | 77.3 ± 20.2 (n = 307) | ||
| Male | 86.3 ± 19.2 (n = 127) | 87.9 ± 18.4 (n = 11) | 86.4 ± 19.1 (n = 138) | ||
| Female | 69.4 ± 17.1 (n = 160) | 77.0 ± 25.9 (n = 9) | 69.8 ± 17.6 (n = 169) | ||
| Height (cm) | 0.56c | ||||
| Male and Female | 169.5 ± 12.0 (n = 287) | 170.9 ± 10.0 (n = 20) | 169.6 ± 11.8 (n = 307) | ||
| Male | 177.5 ± 11.8 (n = 127) | 177.1 ± 6.3 (n = 11) | 177.4 ± 11.5 (n = 138) | ||
| Female | 163.2 ± 7.5 (n = 160) | 163.4 ± 8.4 (n = 9) | 163.2 ± 7.5 (n = 169) | ||
| BMI (kg/m2) | 26.5 ± 5.8 (n = 286) | 28.15 ± 6.4 (n = 20) | 26.6 ± 5.8 (n = 306) | 0.27c | |
| Gout, n (%) | <0.0001a,c | ||||
| Yes | |||||
| Male and female | 202 (50) | 43 (17) | 245 (37) | ||
| Male | 106 (59) | 31 (21) | 137 (42) | ||
| Female | 96 (44) | 12(11) | 108 (33) | ||
| No | |||||
| Male and female | 189 (47) | 13 (5) | 202 (31) | ||
| Male | 72 (40) | 6(4) | 78 (24) | ||
| Female | 117 (53) | 7(6) | 124 (38) | ||
| Uncertain | |||||
| Male and female | 9 (2) | 198 (78) | 207 (32) | ||
| Male | 2 (1) | 108 (7) | 110 (34) | ||
| Female | 7 (3) | 90 (83) | 97 (29) | ||
| Age of gout onset (y) | 0.15c | ||||
| Male and female | 30.5 ± 11.5 (n = 197) | 27.2 ± 9.5 (n = 20) | 30.2 ± 11.4 (n = 217) | ||
| Male | 29.1 ± 9.9 (n = 105) | 28.2 ± 10.4 (n = 13) | 29.0 ± 9.9 (n = 118) | ||
| Female | 32.2 ± 12.9 (n = 92) | 25.4 ± 8.0 (n = 7) | 31.7 ± 12.7 (n = 99) | ||
| Mutation type, n (%) | |||||
| p.H177-R185del (18%) | 108 (27) | 65 (26) | 173 (26) | 0 | |
| p.V93-G97delinsAASC (8%) | 42 (10) | 30 (12) | 72 (11) | 2 (1) | |
| p.R178P (5%) | 21 (5) | 27 (11) | 48 (7) | 0 | |
| p.C106F (5%) | 26 (6) | 21 (8) | 47 (7) | 0 | |
| p.C148Y (3%) | 12 (3) | 11 (4) | 23 (4) | 2 (1) | |
| p.G88D (2%) | 0 | 0 | 0 | 23 (7) | |
| p.P236L (2%) | 10 (2) | 7 (3) | 17 (3) | 3 (1) | |
| p.C135Y (2%) | 14 (4) | 3 (1) | 17 (3) | 0 | |
| p.S91del (2%) | 0 | 1 (0.4) | 1 (0.2) | 16 (5) | |
| p.P236R (1%) | 3 (1) | 1 (0.4) | 4 (1) | 5 (2) | |
| Other mutation (54%) | 164 (41) | 88 (35) | 252 (39) | 278 (84) | |
ADTKD-UMOD, autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations; BMI, body mass index; ESKD, end-stage kidney disease; WF, Wake Forest.
a
Chi-squared test.
b
Fisher’s exact test.
c
WF genotyped versus historic.