Información adicional
- Num_publicacion 77(1-2)
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Resumen_ingles
Gaucher's disease (GD) is an infrequent, progressive hereditary illness with an autosomal recessive inheritance pattern. It is one of the most common lysosomal diseases, with an estimated frequency of 1/50,000 to 1/100,000 in the general population, with the exception of the Ashkenazi Jewish ethnic group, where it is estimated to affect 1/850 births. This article retrospectively describes the evolution of 2 patients with type 1 GD diagnosed and monitored for 20 years at the Torrecárdenas hospital in Almería, managing to control the symptoms with enzyme replacement therapy at intermediate doses. Both patients have remained stable with maintenance enzyme doses and, after prolonged monitoring, effects on bones are minimal and they have adequate quality of life.
- Palabras_clave_ingles Gaucher's disease Lysosomal diseases Enzyme replacement therapy
- Todos_autores M.Á. Vázquez López, F. Lendínez Molinos
- autores listados M.Á. Vázquez López, F. Lendínez Molinos
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Correspondecia
M.Á. Vázquez López. Unidad de Hemato-Oncología. Unidad de Gestión Clínica de Pediatría. Hospital Torrecárdenas. Calle Hermandad de Donantes de Sangre, s/n. 04009 Almería.
Correo electrónico: mavazquezl59@gmail.com - Titulo_ingles Gaucher's disease: evolution of two cases diagnosed at paediatric age after 20 years of monitoring
- Centros_trabajo Unidad de Hemato-Oncología. Unidad de Gestión Clínica de Pediatría. Hospital Torrecárdenas (Almería)
- Publicado en Acta Pediatr Esp. 2019; 77(1-2): 12-16
- copyright ©2019 Ediciones Mayo, S.A.
- Tipo de Artículo Clínico (Microdatos) Case Reports
