Table 2.
Patients with Dent-2 disease with the same missense mutation in exon 11 (p.Arg318Cys) as our patient
| Patient 1 [3]a | Patient 2 [3]a | Patient 3 [9] | Patient 4 [4]b | Patient 5 [4]b | Patient 6 [12] | Our patient | |
|---|---|---|---|---|---|---|---|
| Age at presentation | - | - | 7 | - | - | - | 2 |
| Age at diagnosis (years) | 22 | 27 | 15 | 12 | 17 | 7 | 6 |
| CrCl (cc/min/1.73 m2) | - | - | 90 | 107 | 77 | - | 140 |
| Hypercalciuria (>0.24) | yes | yes | no | yes | yes | - | no |
| LMWP | yes | yes | yes | yes | yes | yes | yes |
| Low TRP (%) | - | - | - | no | no | - | no |
| Renal biopsy | - | - | minor glomerular abnormalities | - | - | - | minimal change disease |
| Elevated CPK/LDH | no/no | no/no | yes/no | yes/yes | yes/yes | - | yes/yes |
| glycosuria | no | no | no | no | no | - | no |
| aminoaciduria | - | - | no | no | no | - | no |
| Renal tubular acidosis | - | - | no | no | no | - | no |
| Nephrocalcinosis/stones | no/no | no/no | no/no | yes/no | yes/no | - | no/no |
| Ocular involvement | no | no | no | no | no | - | no |
| Cognitive function | mild mental retardation | mild mental retardation | normal | normal | normal | normal | normal |
| Growth | - | - | normal | normal | short stature | - | normal |
CrCl creatinine clearance, LMWP low molecular weight proteinuria, TRP tubular reabsorption of phosphate, CPK creatine phosphate kinase, LDH lactate dehydrogenase
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