Argentine consensus on late-onset Pompe's disease

DUBROVSKY A, FULGENZI E, DE VITO EL, BARROSO F, BERARDO A, BETTINI M, BINAGHI D, CALABRESE E, CARLÉS D, CHAVES M, CHLOCA F, CONTI E, CORDERI J, DI GENNARO F, FERRADÁS N, JÁUREGUI A, LUBIENIECKI F, MAZIA C, MEDINA M, PIRRA L ET AL

MEDICINA (BUENOS AIRES)

MEDICINA (BUENOS AIRES)

Año: 2018 vol. 78 p. 1 - 23

0025-7680

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.