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?

Autor: Guerra Hernández NE; Servicio de Nefrología Pediátrica, Hospital General del Centro Médico Nacional «La Raza», Instituto Mexicano del Seguro Social, Ciudad de México, Mexico. Electronic address: normaegh@yahoo.com.mx., Gómez Tenorio C; Servicio de Nefrología Pediátrica, Hospital General del Centro Médico Nacional «La Raza», Instituto Mexicano del Seguro Social, Ciudad de México, Mexico; Servicio de Nefrología Pediátrica, Hospital Hospital de Ginecología No. 48, Instituto Mexicano del Seguro Social, León, Guanajuato, Mexico., Méndez Silva LP; Servicio de Nefrología Pediátrica, Hospital Hospital de Ginecología No. 48, Instituto Mexicano del Seguro Social, León, Guanajuato, Mexico., Moraleda Mesa T; Servicio de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Tenerife, Spain., Escobar LI; Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México, Mexico., Salvador C; Departamento de Fisiología, Facultad de Medicina, Universidad Nacional Autónoma de México, Ciudad de México, Mexico., Vargas Poussou R; Département de Génetique, Hôpital Européen Georges Pompidou, Paris, France., García Nieto VM; Servicio de Nefrología Pediátrica, Hospital Universitario Nuestra Señora de la Candelaria, Santa Cruz de Tenerife, Tenerife, Spain.
Jazyk: angličtina
Zdroj: Nefrologia [Nefrologia (Engl Ed)] 2023 Jul-Aug; Vol. 43 (4), pp. 484-490. Date of Electronic Publication: 2023 Sep 27.
DOI: 10.1016/j.nefroe.2023.08.006
Abstrakt: 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 pCO 2 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 pCO 2 . 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 pCO 2 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.
(Copyright © 2021 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.)
Databáze: MEDLINE
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