An isolated case of nephronophthisis: medullary cystic disease without typical onset.

A 16-year-old girl with renal failure was transferred to our hospital for an extensive renal examination. Computerized tomography and ultrasonography showed multiple small cysts throughout the medulla of both kidneys. Histological findings revealed tubular atrophy and dilatation and marked periglomerular fibrosis, all of which were compatible with nephronophthisis. Her development and growth were normal. A prior urinalysis, as well as her symptoms and family history were not helpful for making a diagnosis. As early diagnosis of nephronophthisis is difficult in some cases, more detailed screening is needed for children and adolescents.