In 2018, a Dutch study on 5 international cohorts reported that 26 of 5606 patients (0.5%) with adult-onset ESRD showed homozygous NPHP1 deletions and were genetically diagnosed with nephronophthisis; however, only 3 (12%) were correctly diagnosed as having nephronophthisis, and the rest were misdiagnosed as having other kidney diseases or were diagnosed as having CKD with an unknown etiology.7 This evidence concerns the gene NPHP1 and nephronophthisis.