According to Yang X et al., as of 2021, from a total of 234 patients described in the literature with kidney disease, 90 had been found to have pathogenic variants in PAX2. A total of 63% of those were identified with renal coloboma syndrome (RCS), 18% with CAKUTs, 8.4% with nephrotic syndrome, 0.9% with CAKUT and nephrotic syndrome, and 10.3% were patients with chronic kidney disease with an unknown etiology. This evidence concerns the gene PAX2 and congenital anomaly of kidney and urinary tract.