Enfermedad de Gaucher

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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

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.

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.

Aspiración de médula ósea

Aspiración de médula ósea

Microfotografía de célula de Gaucher

Microfotografía de célula de Gaucher

Microfotografía 2 de célula de Gaucher

Microfotografía 2 de célula de Gaucher

Hepatoesplenomegalia

Hepatoesplenomegalia

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