Información adicional

• Num_publicacion 77(3-4)
• Resumen_ingles
  Fabry disease (FD) is a hereditary, progressive lysosomal storage disorder that can threaten the patient’s life and diagnosis of which is often slow because of poor identification of the clinical symptoms. A clinical case of FD diagnosed at paediatric age is described here. The main symptoms experienced during childhoad were neuropathic damage, gastrointestinal problems, hypohidrosis and intolerance of heat and cold. After starting enzyme replacement therapy (ERT) at 14 years old, the patient experienced a clinical improvement in the different symptoms suffered, and plasma lyso-GL3 levels fell considerably. It suggests that ERT currently could offers the possibility of delaying the progression of the illness and even encourage the emission of some clinical symptoms in these patients, with an improved long-term prognosis. Early detection of the disease and starting treatment early are essential to ensure greater effectiveness.
• Palabras_clave_ingles Fabry disease Infancy Enzyme replacement therapy
• Todos_autores I. Vitoria Miñana, P. Correcher Medina
• autores listados I. Vitoria Miñana, P. Correcher Medina
• Correspondecia
  I. Vitoria Miñana. Unidad de Nutrición y Metabolopatías. Hospital Universitario La Fe. Avda. de Fernando Abril Martorell, 126. 46026 Valencia.
  Correo electrónico: vitoria_isi@gva.es
• Titulo_ingles Clinical case study of Fabry disease
• Centros_trabajo Unidad de Nutrición y Metabolopatías. Hospital Universitario La Fe. Valencia
• Publicado en Acta Pediatr Esp. 2019; 77(3-4): 62-66
• copyright ©2019 Ediciones Mayo, S.A.
• Tipo de Artículo Clínico (Microdatos) Case Reports