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Enfermedad de Gaucher - Symptom

Nombres alternativos

Deficiencia de glucosilceramidasa; Deficiencia de glucocerebrosidasa

Síntomas:

Los síntomas varían 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 hígado (hepatomegalia)
  • Fatiga
  • Problemas con las válvulas cardíacas
  • Enfermedad pulmonar
  • Convulsiones
  • Hinchazón (edema) grave al nacer
  • Cambios cutáneos

Signos y exámenes:

El médico llevará a cabo un examen físico. El paciente puede presentar signos de hinchazón del hígado y el bazo, cambios óseos, enfermedad pulmonar, problemas con los movimientos del ojo, problemas cardíacos o pérdida de la audición.

Se pueden realizar los siguientes exámenes:

  • 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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