16N-0703 presented in the 2nd year of life with severe nephrolithiasis and his management was significantly altered when he was found to have autosomal dominant polycystic kidney disease (PKD2:NM_000297:exon1:c.567G>A:p.W189X), a known risk factor of nephrolithiasis although his very early presentation was unusual (Grampsas et al. 2000). Here, PKD2 is linked to autosomal dominant polycystic kidney disease.