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Contenido en el Idioma Espa±ol de University of Maryland Medical Center.
Enfermedad de Gaucher
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 mayorÃa 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:
- Convulsiones
- Anemia
- Trombocitopenia
- Problemas óseos
Referencias:
Behrman RE. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders: 2004; 463-464.
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.
- Fecha de revisión: 2/14/2007
- Versión en inglés revisada por: Leisha M. Andersen, M.D., Private Practice specializing in Pediatrics, Denver, CO. Review provided by VeriMed Healthcare Network.
- Traducción y localización realizada por: DrTango, Inc.
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