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

Abstract

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 stimulating H⁺ secretion by obtaining a high intratubular concentration of an anion such as chlorine (pH is measured) or HCO3- (urinary pCO₂ is measured). We present a family with autosomal dominant dRTA produced by a heterozygous mutation in the SLC4A1 gene in which the two paediatric members showed a test of normal maximum urinary pCO₂. Our hypothesis is that since the H ⁺ -ATPase is intact, at least initially, the stimulation induced by intratubular electronegativity to secrete H ⁺ could be effective, which would allow the maximum urinary pCO₂ to be paradoxically normal, which could explain the onset, moderate presentation of symptoms and late diagnosis in patients with this mutation. This is the first documented case of a dominant dRTA in Mexico.

Keywords: Acidosis tubular renal; Lithiasis; Litiasis; Maximum urinary pCO(2); Nefrocalcinosis; Nephrocalcinosis; Renal tubular acidosis; pCO(2) urinaria máxima.