info:eu-repo/semantics/article
Argentine consensus on late-onset Pompe's disease
Fecha
2018-07Registro en:
Dubrovsky, Alberto; Fulgenzi, Ernesto; de Vito, Eduardo; Barroso, Fabio; Berardo, Andres; et al.; Argentine consensus on late-onset Pompe's disease; Fundación Revista Medicina; Medicina (Buenos Aires); 78; 1; 7-2018; 1-23
0025-7680
1669-9106
CONICET Digital
CONICET
Autor
Dubrovsky, Alberto
Fulgenzi, Ernesto
de Vito, Eduardo
Barroso, Fabio
Berardo, Andres
Bettini, Mariela
Binaghi, Daniela
Calabrese, Esteban
Carlés, Daniel
Chaves, Marcelo
Chloca, Fernando
Conti, Eugenia
Corderi, José
DiGennaro, Federico
Ferradás, Nélida
Jáuregui, Agustín
Lubieniecki, Fabiana
Mazia, Claudio Gabriel
Medina, Marta
Pirra, Laura
Politei, Juan
Reisin, Ricardo
Rosa, Alberto Luis
Rugiero, Marcelo
Salutto, Valeria Luján
Schenone, Andrea
Sussini, Mario
Taratuto, Ana L.
Resumen
Pompe´s disease (PD) is an infrequent metabolic autosomic recessive disorder produced by the lack or deficiency of the acid alpha-glucosidase lysosomal enzyme in tissues of involved individuals. Delayed-onset PD is considered whenever symptoms onset start after one year of age. We present an update of the recommendations for the management of delayed-onset PD, taking as reference the guidelines from the Argentine Consensus for diagnosis, treatment and follow-up of PD published in 2013. The present consensus gathered several experts in PD in the areas of internal medicine, laboratory diagnosis, neuropathology, pulmonology, nutrition, neurology, metabolic and neuromuscular disorders as well as rehabilitation to perform an update of the literature of delayed-onset PD, with special attention on relevant information published within the last 4 years. The entire working group approved the final version of the consensus. Each participant provided a declaration of conflict of interest. As a result, it is an update of the previous Argentine PD Consensus with focus on the delayed-onset presentation of the disease. Being such infrequent disorder, available data were rather limited and thus, the recommendations represent expert opinions.