DISTAL RENAL TUBULAR ACIDOSIS WITH SEVERE HYPOKALEMIA – A CASE REPORT

Abstract

Background: Renal tubular acidosis is a group of transport defects secondary to either reduced distal secretion of hydrogen ion or decreased proximal tubular reabsorption of bicarbonate or both, resulting in impaired acidication of urine with persistent hyperchloremic metabolic acidosis. Our case is that of a 5-year-old female child presenting with failure to thrive and weakness.Clinical description and Investigations: Physical examination revealed skeletal deformities with enamel defects. Subsequent blood tests and arterial blood gas analysis revealed hyperchloremic metabolic acidosis with hypokalemia. Urine analysis revealed a positive urinary anion gap with hypercalciuria and hypocitraturia. Imaging studies revealed skeletal changes secondary to rickets and USG whole abdomen showed bilateral kidney nephrocalcinosis. Oral ammonium chloride loading was given and blood and urine pH were monitored every hour for the next 6 hours but the urine pH failed to fall below 5.3 which led us to a diagnosis of distal renal tubular acidosis. Bicarbonate and potassium citrate supplementation was given alongTreatment: with vitamin D and calcium to this child. Timely diagnosis and initiation of appropriate supplementation can help in improving theConclusion: quality of life of these patients.