Nephronophthisis (NPHP) is a rare autosomal recessive inheritance disease that is an important cause of renal failure in children and adolescents. The paper reports a 17-year-old male NPHP patient, admitted to the hospital with "vomiting and fatigue for 10 days, aggravated for 1 day", diagnosed with "kidney failure" after test results showed a significant increase in serum creatinine, anemia, hypocalcemia, hyperphosphatemia, hyperkalemia, and metabolic acidosis. Heterozygous variants in the ZNF423 gene c.1436T>C (p.Val479Ala), a novel mutation site, was identified in the patient by whole exome sequencing for renal failure-associated phenotypes, which provides a new direction for genetic and hereditary analysis of NPHP.