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Trastorno de Hartnup - Treatment

Tratamiento:

Los tratamientos abarcan:

  • Evitar la exposición al sol con el uso de ropa protectora y de protector solar con factor de 15 o mayor.
  • Consumir una dieta rica en proteínas.
  • Tomar suplementos que contengan nicotinamida.
  • Someterse a un tratamiento psiquiátrico, como el uso de antidepresivos o estabilizadores del estado de ánimo, si se presentan cambios en el estado anímico o problemas psiquiátricos.

Expectativas (pronóstico):

La mayoría de las personas con este trastorno puede esperar llevar una vida normal, sin ninguna discapacidad. En raras ocasiones, ha habido informes de enfermedad severa del sistema nervioso e incluso muertes en familias con este trastorno.

Complicaciones:

Generalmente no hay complicaciones, pero cuando se presentan, pueden abarcar:

  • Cambios en el pigmento de la piel que son permanentes
  • Problemas psiquiátricos
  • Erupción cutánea
  • Falta de coordinación en los movimientos

Los síntomas del sistema nervioso generalmente son reversibles; sin embargo, en casos raros, pueden ser severos o potencialmente mortales.

Situaciones que requieren asistencia médica:

Solicite una cita con el médico si tiene síntomas de esta afección, particularmente si hay antecedentes familiares del trastorno de Hartnup. Igualmente, se recomienda la asesoría genética si tiene antecedentes familiares de esta afección y está planeando quedar en embarazo.

  • Reviewed last on: 9/10/2010
  • Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Rezvani I. Defects in metabolism of amino acids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 85.

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