Home > Medical Reference > Encyclopedia (Spanish)
Toggle: English / SpanishServices at the UM Medical Center
Contenido en el Idioma Espa±ol de University of Maryland Medical Center.
Enfermedad de Gaucher
Nombres alternativos:
Deficiencia de glucosilceramidasa; Deficiencia de glucocerebrosidasa
SÃntomas:
Los sÃntomas varÃan dependiendo del tipo de la enfermedad pero pueden incluir:
- Dolor y fracturas óseas
- Deterioro cognitivo
- Tendencia a la formación de hematomas
- Agrandamiento del bazo ( esplenomegalia )
- Agrandamiento del hÃgado ( hepatomegalia )
- Fatiga
- Problemas con las válvulas cardÃacas
- Enfermedad pulmonar
- Convulsiones
- Hinchazón (edema) grave al nacer
- Cambios cutáneos
Signos y exámenes:
El médico llevará a cabo un examen fÃsico. El paciente puede presentar signos de hinchazón del hÃgado y el bazo, cambios óseos, enfermedad pulmonar, problemas con los movimientos del ojo, problemas cardÃacos o pérdida de la audición.
Se pueden realizar los siguientes exámenes:
- Examen de sangre para buscar actividad enzimática
- Aspiración de médula ósea
- Biopsia del bazo
- IRM
- TC
- RadiografÃa del esqueleto
- Pruebas genéticas
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.
|
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). |
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
Email this Page
Print this Page