Pathological finding of Nephronophthisis-Medullary cystic kidney disease Complex with normal renal function

Abstract

 Pathological findings of nephronophthisis-medullary cystic kidney disease complex at 14 years old girl with normal renal function were obtained. She had only mild proteinuria, no renal concentrating disability, no extrarenal disease and congenital history. Renal pathology showed significant thickening and breaking of tubular basement membrane, interstitial fibrosis. In the patient many mitochondria was abnormally aggregated in tubular epithelial cell. That meaning was not clear, but these mitochondria may have an intimate involved in formation of pathogenic condition in tubular basement membrane alteration. We will track to renal sufficiency and analyzing gene mutation.