Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO 2 test be normal?

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 exchang...

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Veröffentlicht in:	Nefrología 2023-07, Vol.43 (4), p.484
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis, Renal Tubular - diagnosis Acidosis, Renal Tubular - genetics Adenosine Triphosphatases - genetics Adenosine Triphosphatases - metabolism Anion Exchange Protein 1, Erythrocyte - genetics Anions - metabolism Child Humans Mutation
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