Acidosis tubular renal distal. Serie de casos y revisión narrativa

  • Juan Sebastián Frías Ordoñez Departamento de Pediatría, Facultad de Medicina, Sede Bogotá, Universidad Nacional de Colombia, Bogotá D.C., Colombia. http://orcid.org/0000-0003-2735-2922
  • José Augusto Urrego Díaz Departamento de Pediatría, Facultad de Medicina, Sede Bogotá, Universidad Nacional de Colombia, Bogotá D.C., Colombia. https://orcid.org/0000-0002-5234-2112
  • Carlos Javier Lozano Triana Servicio de Medicina Interna, Fundación Hospital Pediátrico de la Misericordia, Bogotá D.C., Colombia; Departamento de Pediatría, Facultad de Medicina, Sede Bogotá, Universidad Nacional de Colombia, Bogotá D.C., Colombia. https://orcid.org/0000-0002-6745-7879
  • Guillermo Landinez Millán Servicio de Medicina Interna, Fundación Hospital Pediátrico de la Misericordia, Bogotá D.C., Colombia. Departamento de Pediatría, Facultad de Medicina, Sede Bogotá, Universidad Nacional de Colombia, Bogotá D.C., Colombia. https://orcid.org/0000-0002-8967-5236
Palabras clave: acidosis tubular renal, nefrocalcinosis, genética, túbulos renales distales, enfermedades raras.

Resumen

La acidosis tubular renal distal es causada por un defecto en la excreción de iones de hidrogeno a nivel tubular distal, lo que aumenta el pH de la orina y disminuye el pH plasmático; esta es una enfermedad con varias manifestaciones clínicas asociadas. En este artículo se hace una revisión profunda sobre la acidosis tubular renal distal y se presenta el caso de tres hermanos (dos hombres y una mujer) con la entidad, siendo este uno de los primeros casos familiares reportados en Colombia. Los tres pacientes recibieron el diagnóstico durante el período de lactancia, presentaron nefrocalcinosis y tuvieron buena respuesta a la terapia con álcali iniciada de forma temprana, logrando eventualmente su suspensión. De manera curiosa, uno de los pacientes también presentó deficiencia de mevalonato quinasa con hiperinmunoglobulinemia D, una alteración no descrita con anterioridad. Esta asociación y la aparente falta de necesidad de continuar el manejo con álcali son atípicas a la luz del conocimiento actual, mereciendo especial consideración.

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Publicado
2020-01-08
Cómo citar
1.
Frías Ordoñez JS, Urrego Díaz JA, Lozano Triana CJ, Landinez Millán G. Acidosis tubular renal distal. Serie de casos y revisión narrativa. Rev. Colomb. Nefrol. [Internet]. 8 de enero de 2020 [citado 14 de julio de 2020];7(1). Disponible en: https://revistanefrologia.org/index.php/rcn/article/view/355
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