Kidney disease and electrolyte disturbances

Abstract

Hypochloremic metabolic acidosis with increased anion gap points to classic metabolic disorders, e.g. methylmalonic acidemia. Renal tubular acidosis is hyperchloremic and there is no increase in anion gap; differential diagnosis is diarrheal disease. Urinary tract stone disease in pediatric populations should suggest an inborn error of metabolism. Renal Fanconi syndrome is the common result of several inherited metabolic disorders that cause renal tubular dysfunction. Renal tubular alkalosis is characteristic of the Bartter and Gitelman syndromes. Calcium excretion is decreased in Gitelman syndrome; it is normal or increased in the presence of defective genes, which cause Bartter syndrome. © 2010 Springer-Verlag Berlin Heidelberg.