Arias Sánchez, LEA AG, Volkow P, Zavala GC

Idioma: Español
Referencias bibliográficas: 16
Paginas: 129-133
Archivo PDF: 48.23 Kb.

RESUMEN

El síndrome de Shwachman-Diamond es una enfermedad rara, la cual consiste en una combinación de insuficiencia pancreática exocrina, falla de la médula ósea y disostosis metafisiaria. El locus en el que se origina esta enfermedad se ha localizado de manera reciente en el cromosoma 7. Las causas principales de morbilidad y mortalidad en estos pacientes están relacionadas con la presencia de infecciones recurrentes y la conversión hematológica a una enfermedad mieloide maligna. La esperanza de vida en los pacientes con síndrome de Shwachman-Diamond es de 35 años. El tratamiento consiste en reposición de enzimas pancreáticas, cuidados de sostén y actualmente el trasplante de células madre hematopoyéticas.

REFERENCIAS (EN ESTE ARTÍCULO)

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