Jul 04, 2023

Grand Rounds in Pediatric Nephrology — an ISN-IPNA Sister Centers initiative: Renal Tubular Acidosis: Let T(r)tooth Be Told (July 13, 2 pm CEST)

We present 2 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.

Learning objectives:

To outline the clinical approach and evaluation of a patient with suspected renal tubular acidosis.
To review the extra-renal manifestations of renal tubular acidosis
To discuss the importance of genetic testing in children with renal tubular acidosis

Author IPNA Office

Grand Rounds in Pediatric Nephrology — an ISN-IPNA Sister Centers initiative: Renal Tubular Acidosis: Let T(r)tooth Be Told (July 13, 2 pm CEST)

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