Diagnosis and therapy of renal tubular acidosis in infancy

While distrubances of the acid-base balance are frequently seen in infancy, renal tubular acidosis is a rather rare disease but should be considered as differential diagnosis if metabolic acidosis persists after adequate treatment. Proximal and distal tubular acidosis with primary and secondary forms can be differentiated. Proximal RTA is characterized by the loss of bicarbonate, distal RTA by a defect to establish a hydrogen ion gradient and thus to accomplish acidification of urine. In addition to these two basic forms a bicarbonate wasting state in distal RTA has been described. A patient with these clinical features is presented. He was admitted to our hospital at the age of 1 month with meningitis, enteritis and marked dystrophy. A persistant hyperchloraemic acidosis with concomitant hypokalaemia was present. The ammonium chloride loading test confirmed the diagnosis of primary distal RTA. Renal biopsy performed with 1 year of age revealed nephrocalcinosis of the inner medullary region of the kidney while the cortex was not affected. The patient first needed alkali doses of 12 mEq/kg/day which could be gradually reduced to 3.5 mEq/kg/day. Under additional potassium substitution of 5 mEq/kg/day he was thriving well. Differential diagnosis and the particular clinical features of this case are discussed.