Table 3.
Clinical endpoints in patients with truncating versus those with nontruncating variant groups
| Group type patients pedigrees |
Truncating n:110 n:82 |
Nontruncating n:52 n:41 |
P-value |
|---|---|---|---|
| Clinical stone events (yes/no) | n: 23 (20%) | n: 9 (18%) | 0.87 |
| Nephrocalcinosis | |||
| At first visit | n: 35/69 (50%) | n: 15/40 (38%) | 0.12 |
| At last, follow-up | n: 46/69 (67%) | n: 22/40 (55%) | 0.11 |
| Hematuria at the time of diagnosis (yes/no) | n: 17 (15%) | n: 18 (37%) | <0.01 |
| Family history of Dent disease-1 (N = pedigrees) | n: 19/82 (23%) | n: 4/41 (9%) | <0.01 |
| Family history of nephropathy (N = pedigrees) | n: 21/82 (25%) | n: 11/41 (26%) | 0.88 |
| Age at 1st stone event (yr) | 14 (10–20) | 27 (21–27) | 0.01 |
| Lifetime stone events/yr | 0.12 (.057–0.321) | 0.38 (0.237–0.667) | 0.06 |
| Urine calcium/creatinine ratio (24h urine) | 0.24 (0.14–0.33) | 0.22 (0.15–0.42) | 0.89 |
| Urine citrate/creatinine ratio (24h urine) | 0.56 (0.317–0.706) | 0.47 (0.367–0.688) | 0.77 |
| Total urine protein (gram/24h urine) | |||
| At first visit | 1.5 (0.7–1.87) | 1.4 (0.7–2.2) | 0.60 |
| At last, follow-up | 1.07 (0.6–1.6) | 1.3 (0.8–2.1) | 0.10 |
| Urine albumin (mg/24h urine) | 180.6 (119.15–279.5) | 106.6 (74.45–176.95) | 0.02 |
| Low molecular weight proteinuria: | |||
| Alpha-1M mg/l | 502.5 (321.5–602) | 157 (71–522) | 0.27 |
| Beta-2 microglobulin mg/l | 48.6 (30.9–62.6) | 50.8 (38.7–61.6) | 0.86 |
For nephrocalcinosis, individuals missing imaging were excluded from the analysis. Comparisons were between all individual subjects except for family history of DD1 and family history of nephropathy which were between pedigrees.