Clinical guidelines for late-onset Pompe disease
Por:
Barba-Romero, MA, Barrot, E, Bautista-Lorite, J, Gutierrez-Rivas, E, Illa, I, Jimenez, LM, Ley-Martos, M, de Munain, AL, Pardo, J, Pascual-Pascual, SI, Perez-Lopez, J, Solera, J, Vilchez-Padilla, JJ
Publicada:
16 abr 2012
Resumen:
Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe disease that develops after one year of age. In the guide a group of Spanish experts make specific recommendations about diagnosis, follow-up and treatment of this illness. With regard to diagnosis, the dried blood spots method is essential as the first step for the diagnosis of Pompe disease. The confirmation of the diagnosis of Pompe disease must be made by means of an study of enzymatic activity in isolated lymphocytes or a mutation analysis of the alpha-glucosidase gene. With regard to treatment with enzymatic replacement therapy, the experts say that is effective improving or stabilizating the motor function and the respiratory function and it must be introduced when the first symptoms attributable to Pompe disease appear.
Filiaciones:
Barba-Romero, MA:
Hosp Gen Univ Albacete, Med Interna Serv, Albacete, Spain
Barrot, E:
Hosp Virgen del Rocio, Serv Neumol, Unidad Med Quirurg Enfermedades Resp, Seville, Spain
Bautista-Lorite, J:
Clin Sagrado Corazon, Serv Neurol, Seville, Spain
Gutierrez-Rivas, E:
Hosp 12 Octubre, Serv Neurol, Unidad Neuromuscular, E-28041 Madrid, Spain
Illa, I:
Hosp Santa Creu & Sant Pau, Serv Neurol, Unidad Patol Neuromuscular, Barcelona, Spain
Jimenez, LM:
Hosp Univ Virgen del Rocio, Secc Bioquim Clin, Seville, Spain
Ley-Martos, M:
Hosp Puerta del Mar, UGC Pediat, Secc Neurol, Cadiz, Spain
de Munain, AL:
Hosp Univ Donostia, Serv Neurol, San Sebastian, Spain
Pardo, J:
Hosp Clin Univ, Serv Neurol, Santiago De Compostela, A Coruna, Spain
Pascual-Pascual, SI:
Hosp Univ La Paz, Serv Neuropediat, Madrid, Spain
Perez-Lopez, J:
Hosp Gen Univ Vall dHebron, Unidad Enfermedades Minoritarias, Med Interna Serv, Barcelona, Spain
Solera, J:
Hosp Univ La Paz, Unidad Oncogenet Mol, Inst Genet Med & Mol, Madrid, Spain
Vilchez-Padilla, JJ:
Hosp Univ & Politecn La Fe, Serv Neurol, Valencia, Spain
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