Table 2.
Characteristics according to mutation group.
| Signal | Prosegment | Mature | P value | |
|---|---|---|---|---|
| Individuals | 69 (62%) | 27(24%) | 15(14%) | |
| Families | 21(70%) | 4(13%) | 5(17%) | |
| Age at presentation1 < 10 | 23(39%) | 11(61%) | 0 | 0.003 |
| Age at presentation1 10 to < 20 | 19(32%) | 2(11%) | 0 | 0.02 |
| Age at presentation1 >20 | 17(29%) | 5(28%) | 12(100%) | <0.001 |
| Age at presentation (mean±s.d.)1,2 | 19.7±15.7 | 22.4±20.2 | 37.0±12.42 | |
| Reason for presentation1,2 | 0.014 | |||
| Acute kidney injury | 5/55 (10%) | 0 | 0 | |
| Anemia, acidosis, kidney failure | 7/55(13%) | 0 | 0 | |
| Anemia | 17/55(31%) | 7/14(50%) | 0 | |
| Chronic kidney disease | 12/55(22%) | 2/14(14%) | 3/12(25%) | |
| Gout | 14/55(25%) | 5/14(36%) | 9/12(75%) | |
| Total | 55 | 14 | 12 | |
| Anemia as child (%) | 39/43(91%) | 11/16(69%) | 0/7(0%) | <0.001 |
| Gout developed during the course of disease (%) | 31/55(56%) | 13/20(65%) | 9/14(64%) | 0.74 |
| Age at first gout attack (mean±s.d.) | 29.7±9.9 | 25.7±8.2 | 32.9±11.2 | 0.4 |
| Age at ESKD onset (mean±s.d.) | 53.1±10.6 | 50.8±17.6 | 63.6±7.62 |
1
Excluding individuals who presented for asymptomatic genetic screening. Six of 61 (10%) in the signal group, 7/21 (33%) in the prosegment group, and 3/15 (20%) patients in the mature group were identified by asymptomatic genetic screening.
2
p<0.001 when compared to the two other groups.