NPHP3 and nephropathy, chronic tubulointerstitial: Patients 22 and 69 were strongly suspected of having NPHP based on the combination of ESRD before the age of 7 years without proteinuria or hematuria, normal-sized kidneys with hyperechogenicity and the absence of corticomedullary differentiation, and chronic tubulointerstitial nephropathy (in patient 22) or elevated liver enzymes of unknown cause (in patient 69), whereas targeted exome sequencing revealed three rare and predicted deleterious variants in NPHP3 that were classified as having unknown significance using ACMG criteria (Table 3).