Renal Tubular Acidosis: Let T(r)ooth Be Told; July 13, 2 p.m. CEST - Register Now for the Grand Rounds in Pediatric Nephrology Webinar
Outline the clinical approach and evaluation of a patient with suspected renal tubular acidosis
Review the extra-renal manifestations of renal tubular acidosis
Discuss the importance of genetic testing in children with renal tubular acidosis
We present two children with poor growth, polyuria, dental abnormalities, hypokalemia, and hyperchloremic metabolic acidosis. Detailed evaluation suggested the diagnosis of rate-dependent distal renal tubular acidosis with bilateral medullary nephrocalcinosis. There was transient proximal tubular dysfunction with hypophosphatemia and aminoaciduria. Genetic screening helped clarify the clinical diagnosis and enable genetic counselling.