Table 3.
Comparison of phenotype at diagnosis in probands with UMOD mutation and in those without mutation identified
| Characteristics of Probands | UMOD Mutation | No Mutation | P |
|---|---|---|---|
| Number of probands | 24 | 107 | |
| Age (years) | 28.5 (18.5 to 39.2) | 42 (30 to 53.5) | 0.01 |
| Caucasian ethnicity | 24 (100) | 95 (88.7) | 0.12 |
| Male gender | 20 (83.3) | 65 (60.7) | 0.06 |
| Familial history | |||
| familial history of gout and/or renal disease | 20 (83.3) | 74 (69.1) | 0.21 |
| at least two relatives affected | 14 (58.3) | 41 (38.3) | 0.11 |
| Body mass index (kg/m2)a | 23.9 (21.4 to 24.7) | 23.8 (22.1 to 25.9) | 0.38 |
| Estimated GFR (ml/min per 1.73 m2) | 43 (30 to 54) | 41.7 (27.7 to 53.8) | 0.57 |
| Systolic blood pressure (mmHg)a | 147 (130 to 150) | 140 (126 to 150) | 0.84 |
| Diastolic blood pressure (mmHg)a | 86 (80 to 92) | 85 (80 to 94) | 0.55 |
| Uric acid level and renal excretion | |||
| under allopurinol therapy | 4 (16.7) | 29 (27.1) | 0.43 |
| uricemia in men (μmol/L)b | 570 (504 to 666) | 482 (390 to 595) | 0.02 |
| uricemia in women (μmol/L)b | 520 (491 to 562) | 422 (360 to 488) | 0.24 |
| uricemia >90th percentile | 11/19 (57.8) | 17/74 (23) | 0.01 |
| uricemia >75th percentile | 14/19 (73.6) | 25/74 (33.7) | 0.01 |
| UAEF (%)b | 4.5 (3.3 to 5.8) | 5 (4 to 6.3) | 0.18 |
| UAEF <10th percentile | 7/15 (47.7) | 12/41 (29.3) | 0.34 |
| UAEF <25th percentile | 10/15 (66.7) | 30/41 (73.2) | 0.74 |
| Gout | |||
| history of gout | 16 (66.7) | 55 (51.4) | 0.26 |
| either gout or preemptive allopurinol therapy | 20 (83.3) | 58 (54.2) | 0.01 |
| age at first gout episode (years) | 22 (17.2 to 34) | 28 (20 to 40) | 0.14 |
| Renal cysts | |||
| presence | 7 (29.1) | 59 (54.2) | 0.02 |
| bilateral | 3 (12.5) | 44 (41.1) | 0.01 |
| unilateral | 4 (16.7) | 14 (13.1) | 0.74 |
| Renal cyst localization | |||
| medullary only | 0 | 8 (7.5) | 0.35 |
| cortical only | 6 (25) | 19 (17.8) | 0.4 |
| corticomedullary | 0 | 23 (21.5) | 0.01 |
| undetermined | 1 (4.2) | 8 (7.5) | 1.00 |
| Kidney size <9 cm | 8 (33.3) | 26 (24.3) | 0.44 |
Quantitative parameters are presented as medians (25th to 75th percentiles), and qualitative parameters are presented as numbers (%).
a
In patients without antihypertensive therapy: n = 22 in the UMOD mutation group, and n = 95 in the no-mutation group.
b
n = 15 in the UMOD mutation group, and n = 41 in the no-mutation group.
c
In patients not under allopurinol or on dialysis, n = 19 (14 men and 5 women) in the UMOD mutation group, and n = 74 (37 men and 37 women) in the no-mutation group.