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 |
| Â | p.S275delinsRAfs | Father | Het | ||||||
2 | Female | 5 | - | Recurrent urolithiasis | No | Multiple urolithiasis | p.M1T | Father | Het |
| Â | p.I202N | Mother | Het | ||||||