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Table 1 Clinical features and AGXT mutations in two patients with PH1

From: Mutational analysis of AGXTin two Chinese families with primary hyperoxaluria type 1

Case Gender Age at onset (Y) Age at progression to ESRD (Y) Main symptoms Family history Radiological findings Mutation Mutation origin Type of mutation
1 Female 3 10.6 Recurrent urolithiasis No Multiple urolithiasis p.S81X Mother Het
  p.S275delinsRAfs Father Het
2 Female 5 - Recurrent urolithiasis No Multiple urolithiasis p.M1T Father Het
  p.I202N Mother Het
  1. -:no progression to ESRD.