AGXT and primary hyperoxaluria type 1: van Woerden et al. [5, 19] previously conducted mutation analysis of 33 PH1 patients from a cohort of 57 patients and reported that the 33insC mutation was the third most common mutation and children who had this AGXT mutation in a homozygous state developed ESRD during early infancy with high mortality rate [19], similar to our findings.