The identification of a PAX2 mutation in the family (Figure 1a-c) reported in this study and the subsequent revision of the diagnosis from FJHN to RCS will have important implications for improved patient care, both in terms of treatments for the features already manifested, and also for longer term monitoring of other RCS associated phenotypes that may develop in the future. Here, PAX2 is linked to familial juvenile hyperuricemic nephropathy.