Abstract:

A 22yearold woman was hospitalized because of elevating serum creatinine discovered by routine health examination. The patients characteristics included polydypsia, decreased urine specific gravity, elevated creatinine without proteinuria or hematuria. Renal ultrasonography revealed multiple cysts development at the corticomedullary border. Gene mutation analysis identified two pathogenic NPHP gene mutations: NPHP1 and ZNF423. The patient was diagnosed as nephronophthisis finally and this is the first case of nephronophthisis diagnosed by gene mutation analysis in China.