Información adicional
- Num_publicacion 77(5-6)
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Resumen_ingles
Gaucher’s disease (GD) is a rare hereditary metabolic disorder affecting lysosomal storage, with an autosomal recessive inheritance pattern, caused by mutations to the GBA1 gene. This article retrospectively describes the clinical case of a woman patient diagnosed at 2.5 years with GD type I at Jerez university hospital, the development of which has been monitored at the same hospital for over 20 years. After receiving enzyme replacement treatment for 5 years, though it was interrupted due to inadequate supplies of the enzyme, since 2011 (taking part in the ENCORE study) she has been treated with eliglustat tartrate, a substrate reduction therapy. Response to treatment is good and the therapeutic aims are being achieved. The bilateral sacroileitis remains, though it is stable and controlled.
- Palabras_clave_ingles Gaucher’s Disease enzyme replacement treatment bilateral sacroileitis
- Todos_autores L. Hermosín Ramos
- autores listados L. Hermosín Ramos
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Correspondecia
L. Hermosín Ramos. Unidad de Gestión Clínica de Hematología y Hemoterapia. Hospital Universitario de Jerez. Ronda de Circunvalación, s/n.11407 Jerez de la Frontera (Cádiz). Correo electrónico: marial.hermosin.sspa@juntadeandalucia.es
- Titulo_ingles Clinical case study of Gaucher’s disease type I and bilateral sacroileitis
- Centros_trabajo Unidad de Gestión Clínica de Hematología y Hemoterapia. Hospital Universitario de Jerez (Cádiz)
- Publicado en Acta Pediatr Esp. 2019; 77(5-6): 102-107
- copyright ©2019 Ediciones Mayo, S.A. All rights reserved.
- Tipo de Artículo Clínico (Microdatos) Case Reports
