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

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

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Bibliographic Details
Main Authors: Norma E. Guerra Hernández, Circe Gómez Tenorio, Laura Paloma Méndez Silva, Teresa Moraleda Mesa, Laura I. Escobar, Carolina Salvador, Rosa Vargas Poussou, Víctor M. García Nieto
Format: Article
Language:English
Published: Elsevier 2023-07-01
Series:Nefrología (English Edition)
Subjects:
Acidosis tubular renal
Nefrocalcinosis
Litiasis
pCO2 urinaria máxima
Online Access:http://www.sciencedirect.com/science/article/pii/S201325142300144X

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http://www.sciencedirect.com/science/article/pii/S201325142300144X

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