Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?

doi:10.1016/j.nefroe.2023.08.006

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Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?

Nefrologia - 1 Jan 2000

Guerra Hernández Norma E, Gómez Tenorio Circe, Méndez Silva Laura Paloma, Moraleda Mesa Teresa, Escobar Laura I, Salvador Carolina, Vargas Poussou Rosa, García Nieto Víctor M

Abstract excerpt

Primary distal renal tubular acidosis (dRTA) is a rare tubulopathy characterised by the presence of hyperchloremic metabolic acidosis. It is caused by the existence of a defect in the function of the H+ -ATPase located on the luminal side of the α-intercalated cells or the Cl - HCO3- (AE1) anion exchanger located on the basolateral side. Patients do not acidify the urine after acid overload (NH4Cl) or after...

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Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?

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