Abstract: Nephronophthisis is an autosomal recessive tubulointerstitial disorder caused by mutations in ciliary genes and a common genetic cause of renal failure in children and adolescents. Clinical manifestations include decreased renal concentrating function, chronic interstitial nephritis, cystic kidney disease, with or without extrarenal manifestations. In recent years, along with the development of molecular biology technology, great progress has been made in understanding its genetic background and related signaling pathways, which also brings hope for individualized treatment of such patients. This article reviewed the pathogenic genes, pathogenesis, and treatment progress of nephronophthisis.

Key words: nephronophthisis, genetic kidney disease, renal interstitial lesions, renal tubular disease