Table 2 Patients with Dent-2 disease with the same missense mutation in exon 11 (p.Arg318Cys) as our patient
From: Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease
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 |