Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience
dc.contributor.author | De las Heras Montero, Javier Adolfo | |
dc.contributor.author | Cano San José, Ainara | |
dc.contributor.author | Vinuesa Jaca, Ana | |
dc.contributor.author | Montes, Marta | |
dc.contributor.author | Unceta Suárez, María | |
dc.contributor.author | Arza, Arantza | |
dc.contributor.author | Jiménez, Saioa | |
dc.contributor.author | Vera de Pedro, Elena | |
dc.contributor.author | Del Hoyo Moracho, Marta | |
dc.contributor.author | Gendive, Miriam | |
dc.contributor.author | Aguirre, Lizar | |
dc.contributor.author | Muñoz García, Gisela Cristina | |
dc.contributor.author | Fernández, Javier | |
dc.contributor.author | Ruiz Espinoza, Cynthia | |
dc.contributor.author | Fernández, María Ángeles | |
dc.contributor.author | Galdeano Miranda, José Miguel | |
dc.contributor.author | Rodríguez, Irene | |
dc.contributor.author | Román Echevarría, Lourdes | |
dc.contributor.author | Rodríguez Serna, Amaya | |
dc.contributor.author | Loureiro, Begoña | |
dc.contributor.author | Astigarraga Aguirre, María Iciar | |
dc.date.accessioned | 2021-11-29T10:43:49Z | |
dc.date.available | 2021-11-29T10:43:49Z | |
dc.date.issued | 2021-11-09 | |
dc.identifier.citation | Children 8(11) : (2021) // Article ID 1026 | es_ES |
dc.identifier.issn | 2227-9067 | |
dc.identifier.uri | http://hdl.handle.net/10810/54166 | |
dc.description.abstract | Abstract Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years of life. Although enzyme replacement therapy (ERT) with alglucosidase alfa has improved survival, treatment outcome is not good in many cases and is largely dependent on age at initiation. The objective of the study was (a) to analyse the different stages in the diagnosis and specific treatment initiation procedure in IPD patients, and (b) to compare clinical and biochemical outcomes depending on age at ERT initiation (<1 month of age vs. <3 months of age). Here, we show satisfactory clinical and biochemical outcomes in two IPD patients after early treatment initiation before 3 months of life with immunomodulatory therapy in the ERT-naïve setting, with a high ERT dose from the beginning. Despite the overall good evolution, the patient who initiated treatment <1 month of life presented even better outcomes than the patient who started treatment <3 months of life, with an earlier normalization of hypertrophic cardiomyopathy, along with CK normalization, highlighting the importance of early treatment initiation in this progressive disease before irreversible muscle damage has occurred. | es_ES |
dc.description.sponsorship | This work was partially funded by the Basque Department of Education (IT1281-19). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | MDPI | es_ES |
dc.rights | info:eu-repo/semantics/openAccess | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es/ | |
dc.subject | Pompe disease | es_ES |
dc.subject | infantile Pompe disease | es_ES |
dc.subject | immune tolerance induction | es_ES |
dc.subject | immunomodulation | es_ES |
dc.subject | early diagnosis | es_ES |
dc.subject | enzyme replacement therapy | es_ES |
dc.title | Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience | es_ES |
dc.type | info:eu-repo/semantics/article | es_ES |
dc.date.updated | 2021-11-25T15:59:48Z | |
dc.rights.holder | 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). | es_ES |
dc.relation.publisherversion | https://www.mdpi.com/2227-9067/8/11/1026/htm | es_ES |
dc.identifier.doi | 10.3390/children8111026 | |
dc.departamentoes | Pediatría | |
dc.departamentoeu | Pediatria |
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Except where otherwise noted, this item's license is described as 2021 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).