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Enfermedad de Gaucher - Treatment

Nombres alternativos

Deficiencia de glucosilceramidasa; Deficiencia de glucocerebrosidasa

Tratamiento:

Hay disponibilidad de la terapia de reemplazo enzimático. En los casos graves, se puede necesitar un trasplante de médula ósea.

Grupos de apoyo:

Para mayor información, se puede contactar a:

  • Childrens Gauchers Disease Research Fund: www.childrensgaucher.org
  • National Gaucher Foundation: www.gaucherdisease.org

Expectativas (pronóstico):

La recuperación de una persona depende del subtipo de la enfermedad. La forma infantil de esta enfermedad puede conducir a la muerte temprana y la mayoría de los niños afectados muere antes de los 5 años de edad.

Los adultos con el tipo 1 de la enfermedad pueden esperar una expectativa de vida normal con la terapia de reemplazo enzimático.

Complicaciones:

  • Reviewed last on: 11/12/2010
  • Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

Referencias

Stanley CA, Bennett MJ. Defects of metabolism in lipids. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 86.

Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005:163-165.

Sidransky E, Lamarca ME, Ginns EI. Therapy for Gaucher disease: Don't stop thinking about tomorrow. Mol Genet Metab. 2007 Feb;90(2):122-5. Epub 2006 Nov 3.

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