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

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.PMID:37775346 | DOI:10.1016/j.nefroe.2023.08.006

Source: Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - September 29, 2023 Category: Urology & Nephrology Authors: Norma E Guerra Hern ández Circe G ómez Tenorio Laura Paloma M éndez Silva Teresa Moraleda Mesa Laura I Escobar Carolina Salvador Rosa Vargas Poussou V íctor M García Nieto Source Type: research