Nephrogenic Diabetes Insipidus. On the purpose of a case

Abstract

Tubulopaties gather an important quantity of entities having in common renal tubular dysfunction generally traduced in the reabsortion alteration of one or several elements, determinant in the clinical manifestations. Anomalies in the tubular transport could be primary or could be developed as a result of other disorders. The primary ones have a hereditary, congenital character, explaining why the first symptoms are generally precocious and, therefore, their diagnosis is made by the pediatrician. We present a patient diagnosed with congenital, nephrogenic diabetes insipidus at the Teaching Pediatric Hospital “Eliseo Noel Caamaño” of Matanzas, in January 2008. We describe its pathogeny, hereditary transmission way, and also the most relevant clinical aspects of this malady, having into account how infrequent it is and that its prevalence is not known exactly.