Table 2 Characteristics of patients with detected mutations
Characteristics of patients | I244T mutation* N = 17 | 33_34insC mutation* n = 8 | ||
|---|---|---|---|---|
Median and [range ] of ages of onset (years) | 12 [0.25 - 38] | 3[0.33 - 61] | ||
Oxalate/creat (mmol/mmol) | 0.6 ± 0.95 | 0.17 ± 0.15 | ||
Different ages of onset | (number of patients) | % | ||
   < 1 yr | (2) | 11.7 | (1) | 12.5 |
   2-5 yr | (5) | 29.4 | (6) | 75 |
   10-20 yr | (7) | 41.1 | - | |
   > 20 yr | (3) | 17.6 | (1) | 12.5 |
Consanguinity | (12) | 70.5 | (8) | 100 |
Renal insufficiency | (13) | 76.4 | (7) | 87.5 |
with nephrocalcinosis only | (3) | 17.6 | (0) | 0 |
with urolithiasis | (3) | 17.6 | (6) | 75 |
   with both nephrocalcinosis and urolithiasis | (4) | 23.5 | (1) | 12.5 |
   Data not done | (3) | 17.6 | - | - |
ESRD | (13) | 76.4 | (7) | 87.5 |
   Hemodialysis | (11) | 64.7 | (7) | 87.5 |
   Peritoneal Dialysis | (2) | 11.7 | (0) | 0 |
Preserved renal function | (4) | 23.5 | (1) | 12.5 |
Systemic symptoms | (4) | 23.5 | (2) | 25 |
Mortality | (5) | 29.5 | (5) | 62.5 |