Acta Pediátrica Española

ISSN 2014-2986

Información adicional

  • Num_publicacion 73(10)
  • Resumen_ingles

    Since summer 2014, we start the FIND project. This project is result of collaboration with the Asociación MPS España to perform a screening based on symptoms in children.

    The screening is currently underway determining the glycosaminoglycans (GAG) levels in a urine sample impregnated on paper. Through participation of Spanish pediatricians, we have received 71 samples and we have been identified 4 cases of mucopolysaccharidosis (MPS): one for each of following types I, II, III and VI.

    The GAG’s determination using urine-impregnated filter paper seems a fast, simple and reliable MPS screening.

  • Palabras_clave_ingles Screening Mucopolysaccharidosis (MPS) Glycosaminoglycans (GAG) Urine
  • Todos_autores C. Colón Mejeras, J.V. Álvarez González, M.L. Couce Pico
  • autores listados C. Colón Mejeras, J.V. Álvarez González, M.L. Couce Pico
  • Correspondecia
    C. Colón Mejeras. Laboratorio de Metabolopatías. Unidade de Diagnóstico e Tratamento das Enfermidades Conxénitas do Metabolismo. Hospital Clínico Universitario de Santiago. Choupana, s/n. 15702 Santiago de Compostela (A Coruña).
    Correo electrónico: cristobal.colon.mejeras@sergas.es
  • Titulo_ingles The FIND project, first year’s results for mucopolysaccharidosis early detection
  • Centros_trabajo Unidade de Diagnóstico e Tratamento das Enfermidades Conxénitas do Metabolismo. Xerencia de Xestión Integrada de Santiago de Compostela. IDIS. Santiago de Compostela (A Coruña)
  • Publicado en Acta Pediatr Esp. 2015; 73(10): 265-267
  • copyright ©2015 Ediciones Mayo, S.A.
  • Tipo de Artículo Clínico (Microdatos) Observational Study
Publicado en Originales

Información adicional

  • Num_publicacion 73(5)
  • Resumen_ingles
    Introduction: Carpal tunnel syndrome (CTS) is a compressive neuropathy of the median nerve in the carpal tunnel, and is a rare pathology in children and young adults. The relationship between the occurrence of CTS and storage diseases such as mucopolysaccharidosis (MPS) is clearly documented, and should be considered when faced with a young person presenting with an apparently idiopathic CTS.
    Objectives: To study the frequency of lysosomal storage disease in patients under the age of 30 diagnosed with carpal tunnel syndrome in the past five years (retrospective phase) by the Neurophysiology Service of Hospital de Torrecárdenas (Almería).
    Results: 91 patients with CTS were diagnosed in the period 2005-2010, of which 30, predominantly women aged between 20-22 and 24-27 years old, met the criteria for inclusion in the study. Five patients were found with suspected lysosomal storage disease (16%) of which two (6%) were false positives and three (10%) were diagnosed with MPS.
    Conclusion: The existence of CTS in patients aged under 30 years should alert the physician to suspect lysosomal storage diseases, such as MPS, in the differential diagnosis of the case.
     
  • Palabras_clave_ingles Carpel tunnel syndrome Mucopolysaccharidosis Dry blood spot test Glycoaminoglycanos
  • Todos_autores F.J. Aguirre Rodríguez1, P. Villalobos López2, J. Ramos Lizana1, P. Aguilera López1, M. Rodríguez Lucenilla1, M. García Ucles3
  • autores listados F.J. Aguirre Rodríguez, P. Villalobos López, J. Ramos Lizana, P. Aguilera López, M. Rodríguez Lucenilla, M. García Ucles
  • Correspondecia
    F.J. Aguirre Rodríguez. Unidad de Neuropediatría. UGC Pediatría. Hospital Torrecárdenas. Calle Hermandad de Donantes de Sangre, s/n. 04009 Almería.
    Correo electrónico: javieraguirrerodriguez@orange.es
  • Titulo_ingles Carpal tunnel syndrome as the first symptom in mild forms of mucopolysaccharidosis
  • Centros_trabajo 1Unidad de Neuropediatría. UGC Pediatría. 2Unidad de Neurofisiología. UGC Neurología. 3Servicio de Anestesiología y Reanimación. Hospital Torrecárdenas. Almería
  • Publicado en Acta Pediatr Esp. 2015; 73(5): 115-118
  • copyright ©2015 Ediciones Mayo, S.A.
  • Fecha recepcion 12/02/15
  • Fecha aceptacion 19/02/15
  • Tipo de Artículo Clínico (Microdatos) Observational Study
Publicado en Originales

Información adicional

  • Num_publicacion 73(3)
  • Resumen_ingles

    The mucopolysaccharidoses (MPS) are a heterogeneous group of lysosomal diseases caused by the enzymatic deficiency of glycosaminoglycans (GAG) degradation.
    Due to recent treatment advances and the fact that early diagnosis and treatment implicate a better clinical outcome, we have started the FIND project. This project is a selective screening to detect possible MPS cases in children using urine and blood samples impregnated in analytical paper, easily obtained in the Pediatrician consultation and supplied in the FIND kit.
    We carry out the GAG determination on urine sample. Over those urine samples with an elevated GAG concentration; we can perform the enzymatic activity on the blood sample, in order to identify the possible enzyme defect.

  • Palabras_clave_ingles Mucopolysaccharidoses Lysosomal diseases Glycosaminoglycans Children FIND project
  • Todos_autores C. Colón Mejeras
  • autores listados C. Colón Mejeras
  • Correspondecia
    C. Colón Mejeras. Unidade de Diagnóstico e Tratamento das Enfermidades Conxénitas do Metabolismo. Xerencia de Xestión Integrada de Santiago de Compostela. Choupana, s/n. 15702 Santiago de Compostela (A Coruña)
  • Titulo_ingles The FIND project: The importance of early diagnosis
  • Centros_trabajo Unidade de Diagnóstico e Tratamento das Enfermidades Conxénitas do Metabolismo. Xerencia de Xestión Integrada de Santiago de Compostela. Santiago de Compostela (A Coruña)
  • Publicado en Acta Pediatr Esp. 2015; 73(3): 56-59
  • copyright ©2015 Ediciones Mayo, S.A.
  • Tipo de Artículo Clínico (Microdatos) Observational Study
Publicado en Originales

Información adicional

  • Resumen_ingles

    To make use of the recently introduced enzyme replacement therapy for Hunter disease (mucopolysaccharidosis II [MPS II]) and the currently available molecular study of the families in order to identify male patients and female carriers of the pathogenic mutations, the early diagnosis of the patients is essential. As there is still no definitive test for neonatal screening for MPS II, the diagnosis of the disease depends on the correct interpretation of the signs and symptoms of the patients and on the judicious use of complementary examinations by primary care physicians.

  • Palabras_clave_ingles Mucopolysaccharidosis Hunter disease
  • Todos_autores A. Baldellou Vázquez, M.C. García Jiménez
  • autores listados A. Baldellou Vázquez, M.C. García Jiménez
  • Correspondecia
    A. Baldellou Vázquez. Unidad de Enfermedades Metabólicas. Hospital Infantil «Miguel Servet». Paseo Isabel la Católica, 3. 50009 Zaragoza.
    Correo electrónico: abaldellou@salud.aragon.es
  • Titulo_ingles Diagnosis of mucopolysaccharidosis II (Hunter syndrome) by primary care physicians
  • Centros_trabajo Unidad de Enfermedades Metabólicas. Hospital Infantil «Miguel Servet». Zaragoza
  • Publicado en Acta Pediatr Esp. 2006; 64(10): 482-485
  • copyright ©2006 Ediciones Mayo, S.A.
  • Fecha recepcion 01/09/06
  • Fecha aceptacion 13/09/06
Publicado en Originales
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