A case of juvenile nephronophthisis in a boy who was detected at a mild proteinuria on school urinary screening

Abstract

 We reported a case of juvenile nephronophthisis. The patient was 7-year-old boy who was detected at a mild proteinuria on urinary screening. He presented with hypertension, anemia, and renal dysfunction. He had mild proteinuria and renal concentrating disability, but no microhematuria. Renal histology revealed global sclerosis, renal tubular cysts, and tubulointerstitial cell infiltrates with interstitial fibrosis. He was diagnosed chronic renal failure caused by juvenile nephronophthisis by renal pathology, and is receiving peritoneal dialysis. Medical examination by interview revealed that he had polyuria at day and night time from three years old. It is difficult to screen nephronophthisis on 3-year old and school urinary screening. When we discovered that he had renal concentrating disability, we should discriminate this disease from others.