By deep phenotyping, the 7 patients with CAKUT carrying a PAX2 LOF variant presented with bilateral (cystic) KHD (Figure 1, Figure 2, and Table 2), accounting for 7 of 105 patients (6.7%) with the diagnosis of bilateral (cystic) KHD that was not combined with PUV. The gene discussed is PAX2; the disease is congenital anomaly of kidney and urinary tract.