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 ultras onography showed multiple small cysts throughout the medulla of both k idneys. 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 urin alysis, as well as her symptoms and family history were not helpful fo r making a diagnosis, As early diagnosis of nephronophthisis is diffic ult in some cases, more detailed screening is needed for children and adolescents.