Insuficiência renal de evolução silenciosa

Nephronophthisis describes a recessively inherited clinicopathological entity that leads invariably to chronic renal failure, as a result of a chronic sclerosing tubulointersticial nephropathy. A 12 years old girl with acute exacerbation of an insidious chronic renal failure is reported. Polyuria and polidipsia were the earliest symptoms, although the situation was not recognized until severe anemia and endstage renal failure developed. Kidneys were moderately reduced with loss of corticomedullary differentiation. This report shows the relevance of a high level of suspicion in the diagnosis of juvenile nephronophthisis, due to the unspecific clinic manifestations and the inexorable deterioration to end-stage renal failure.