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Enfermedad de Gaucher - Prevention

Nombres alternativos

Deficiencia de glucosilceramidasa; Deficiencia de glucocerebrosidasa

Prevención:

Se recomienda la asesoría genética para las parejas con antecedentes familiares del síndrome de Gaucher que planean tener hijos. Con las pruebas, se puede determinar si los padres son portadores del gen que podría transmitir la enfermedad. También es posible determinar en un examen prenatal si el feto sufre este síndrome.

  • 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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