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Table 2 Characteristics of patients with detected mutations

From: Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria

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
  1. * All patients with homozygote and heterozygote mutations were considered; The patient carrying compound heterozygote mutations (I244T and 33_34ins) was considered in the two columns
  2. **Characteristic of patients with homozygote mutations are described in Additional file 2, Table S2.