Abstract

FRIAS ORDONEZ, Juan Sebastián; URREGO DIAZ, José Augusto; LOZANO TRIANA, Carlos Javier  and  LANDINEZ MILLAN, Guillermo. Distal renal tubular acidosis: case series report and literature review. Rev. colom. nefrol. [online]. 2020, vol.7, n.1, pp.97-112.  Epub Dec 11, 2020. ISSN 2500-5006.  https://doi.org/10.22265/acnef.7.1.355.

The distal renal tubular acidosis presents due to a defect in the excretion of hydrogen ions at the distal tubular level, causing an increase in the pH of the urine and a decrease in the plasma pH, with several associated clinical manifestations. This article makes a thorough review of distal renal tubular acidosis and presents the case of three siblings with the entity, two men and one woman, this being one of the first family cases reported in Colombia. All three received the diagnosis during the lactation period, presented nephrocalcinosis and good response to the alkali therapy started early, eventually achieving their suspension. Interestingly, one of them also presented deficiency mevalonate-kinase with hiperinmunoglobulinemia D, alteration not previously described. This association and the apparent lack of need for continued management with alkali are atypical in the light of current knowledge, deserving special consideration.

Keywords : Acidosis; renal tubular; nephrocalcinosis; genetics; kidney tubules; distal; rare diseases.

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