Acidosis tubular renal distal. Reporte de serie de casos y revisión narrativa

  • Juan Sebastián Frías Ordoñez Universidad Nacional de Colombia http://orcid.org/0000-0003-2735-2922
  • Jose Augusto Urrego Díaz Universidad Nacional de Colombia
  • Carlos Javier Lozano Triana Universidad Nacional de Colombia
  • Guillermo Landinez Millan Universidad Nacional de Colombia
Palabras clave: Acidosis tubular renal, Nefrocalcinosis, Genética, Túbulos renales distales, Enfermedades raras.

Resumen

La acidosis tubular renal distal se debe a un defecto en la excreción de iones de hidrogeno a nivel tubular distal, produciendo un aumento en el pH de la orina y una disminución en el pH plasmático, con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre acidosis tubular renal distal y se presenta el caso de tres hermanos con la entidad, dos hombres y una mujer, siendo éste uno de los primeros casos familiares reportados en Colombia. Los tres recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. Curiosamente, uno de ellos presentó además deficiencia mevalonato-kinasa con hiperinmunoglobulinemia D, alteración no descrita previamente. Esta asociación y la aparente falta de necesidad de continuación del manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.

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Biografía del autor/a

Juan Sebastián Frías Ordoñez, Universidad Nacional de Colombia
Medico-Cirujano Universidad Nacional de Colombia. Sede Bogotá. Facultad de Medicina. Bogotá, D.C. Colombia.
Jose Augusto Urrego Díaz, Universidad Nacional de Colombia
Medico-Cirujano Universidad Nacional de Colombia. Sede Bogotá. Facultad de Medicina. Bogotá, D.C. Colombia.
Carlos Javier Lozano Triana, Universidad Nacional de Colombia
Pediatría Hospital de la Misericordia. Bogotá D.C, Colombia .
Guillermo Landinez Millan, Universidad Nacional de Colombia
Pediatría Hospital de la Misericordia. Bogotá D.C, Colombia .

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Publicado
2020-01-08
Cómo citar
Frías Ordoñez, J. S., Urrego Díaz, J. A., Lozano Triana, C. J., & Landinez Millan, G. (2020). Acidosis tubular renal distal. Reporte de serie de casos y revisión narrativa. Revista Colombiana De Nefrología, 7(1). https://doi.org/10.22265/acnef.7.1.355
Sección
Artículo casos clínicos