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Alcaptonuria - Treatment

Nombres alternativos

Ocronosis alcaptonúrica; ACU; Deficiencia de la oxidasa del ácido homogentísico

Tratamiento:

Algunos pacientes obtienen beneficios con una dosis alta de vitamina C. Esto ha demostrado que disminuye la acumulación del pigmento marrón en el cartílago y puede reducir el desarrollo de artritis.

Pronóstico:

Se espera un buen resultado.

Posibles complicaciones:

Las personas con esta afección también pueden padecer artritis en la vida adulta. La acumulación de ácido homogentísico en el cartílago ocasiona artritis en aproximadamente el 50% de los adultos mayores que tienen alcaptonuria.

  • El ácido homogentísico también se puede acumular en las válvulas del corazón, especialmente en la válvula mitral, llevando a veces a la necesidad de una valvuloplastia.
  • La arteriopatía coronaria se puede desarrollar más temprano en personas con alcaptonuria.
  • Los cálculos renales y de la próstata pueden ser más comunes en personas con alcaptonuria.

Cuándo contactar a un profesional médico:

Consulte con el médico si nota que su orina o la orina de su hijo se torna castaño oscura o negra con la exposición al aire.

  • Reviewed last on: 5/15/2011
  • Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Chakrapani A, Holme E. Disorders of tyrosine metabolism. In: Fernandes J, Saudubray J-m, van den Berghe G, Walter JH, eds. Inborn Metabolic Diseases: Diagnosis and Treatment. 4th ed. New York, NY: Springer;2006:chap 18.

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