Abstract

Normal anion gap hypercritical metabolic acidosis and decreased bicarbonate reclamation in the proximal tubule are characteristic features of proximal renal tubular acidosis (pRTA), a clinical syndrome that can be inherited or acquired. Although pRTA can occur on its own in children, it is frequently associated with Fanconi syndrome, a more general form of proximal tubular dysfunction that frequently indicates a systemic disorder underneath. When Fanconi syndrome is present, pRTA is characterized by additional renal wasting of phosphate, glucose, uric acid, and amino acids. The most common cause of inherited Fanconi syndrome in children is cystitis, which can be treated. A summary of the clinical presentation of pRTA and Fanconi syndrome in children, as well as a list of possible diagnoses, are presented.