학술논문
Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience.
Document Type
Academic Journal
Author
de Las Heras J; Division of Pediatric Metabolism, CIBER-ER, Cruces University Hospital, 48903 Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Cruces University Hospital, 48903 Barakaldo, Spain.; Department of Pediatrics, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.; Cano A; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Vinuesa A; Division of Pediatric Metabolism, CIBER-ER, Cruces University Hospital, 48903 Barakaldo, Spain.; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Cruces University Hospital, 48903 Barakaldo, Spain.; Montes M; Division of Pediatric Metabolism, CIBER-ER, Cruces University Hospital, 48903 Barakaldo, Spain.; Unceta Suarez M; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Metabolism Section, Biochemistry Laboratory, Cruces University Hospital, 48903 Bizkaia, Spain.; Arza A; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Metabolism Section, Biochemistry Laboratory, Cruces University Hospital, 48903 Bizkaia, Spain.; Jiménez S; Department of Pediatrics, Araba University Hospital, 01009 Vitoria, Spain.; Vera E; Department of Pediatrics, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.; Department of Pediatrics, Araba University Hospital, 01009 Vitoria, Spain.; Del Hoyo M; Department of Pediatrics, Araba University Hospital, 01009 Vitoria, Spain.; Gendive M; Department of Pediatrics, Araba University Hospital, 01009 Vitoria, Spain.; Aguirre L; Department of Pediatrics, Araba University Hospital, 01009 Vitoria, Spain.; Muñoz G; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.; Department of Pediatrics, Basurto University Hospital, 48013 Bilbao, Spain.; Fernández J; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Basurto University Hospital, 48013 Bilbao, Spain.; Ruiz-Espinoza C; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Basurto University Hospital, 48013 Bilbao, Spain.; Fernández MÁ; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Basurto University Hospital, 48013 Bilbao, Spain.; Galdeano JM; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Cruces University Hospital, 48903 Barakaldo, Spain.; Rodríguez I; Department of Cardiology, Cruces University Hospital, 48903 Barakaldo, Spain.; Román L; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Cruces University Hospital, 48903 Barakaldo, Spain.; Rodríguez-Serna A; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Cruces University Hospital, 48903 Barakaldo, Spain.; Loureiro B; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Cruces University Hospital, 48903 Barakaldo, Spain.; Astigarraga I; Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.; Department of Pediatrics, Cruces University Hospital, 48903 Barakaldo, Spain.; Department of Pediatrics, University of the Basque Country (UPV/EHU), 48940 Leioa, Spain.
Source
Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101648936 Publication Model: Electronic Cited Medium: Print ISSN: 2227-9067 (Print) Linking ISSN: 22279067 NLM ISO Abbreviation: Children (Basel) Subsets: PubMed not MEDLINE
Subject
Language
English
ISSN
2227-9067
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.