Table 3.
Clinical characteristics of patients with CLDN16 and CLDN19 mutations
| Demographic Characteristics | CLDN16 (n=9) | CLDN19 (n=23) | P Value |
|---|---|---|---|
| Sex ratio (male/female) | 4/5 | 10/13 | 1.00 |
| Age at first symptoms (years) | 7.0 (3–14) | 8.0 (1–13)2 | 0.83 |
| Age at clinical diagnosis (years) | 7.0 (3–14) | 10.0 (1–21) | 0.51 |
| Age at genetic diagnosis (years) | 11.0 (3–23) | 19.0 (10–28) | 0.12 |
| Initial signs | |||
| nephrocalcinosis n (%) | 5 (55.5) | 6 (26.1) | 0.40 |
| nephrolithiasis n (%) | 1 (11.1) | 4 (17.4) | 1.00 |
| urinary tract infections n (%) | 3 (33.3) | 4 (17.4) | 0.37 |
| abdominal pain n (%) | 2 (22.2) | 2 (8.7) | 0.55 |
| polyuria-polydipsia n (%) | 2 (22.2) | 4 (17.4) | 1.00 |
| enuresis n (%) | 0 | 3 (13.0) | 0.54 |
| high BP n (%) | 0 | 1 (4.3) | 1.00 |
| asymptomatic n (%) | 1 (11.1) | 3 (13.0) | 1.00 |
| Clinical progression | |||
| nephrocalcinosis n (%) | 9 (100) | 22 (100)1 | 1.00 |
| nephrolithiasis n (%) | 1 (12.5)1 | 8 (42.1)4 | 0.20 |
| ocular impairment n (%) | 0 | 21 (91.3)1 | <0.01 |
| neurologic impairment n (%) | 2 (22.2) | 1 (4.3) | 1.00 |
| high BP n (%) | 2 (22.2) | 8 (34.8) | 0.68 |
| failure to thrive n (%) | 1 (14.7)2 | 6 (37.5)8 | 0.61 |
Values are expressed as percentages with the exception of age, which is expressed as median and interquartile range. Superscript values correspond to the numbers of missing data.