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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Principais autores:	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
格式:	Artigo
語言:	Inglês
出版:	Elsevier 2023-07-01
叢編:	Nefrología (English Edition)
主題:	Acidosis tubular renal Nefrocalcinosis Litiasis pCO2 urinaria máxima
在線閱讀:	http://www.sciencedirect.com/science/article/pii/S201325142300144X
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