de Las Heras Javier, Cano Ainara, Vinuesa Ana, Montes Marta, Unceta Suarez María, Arza Arantza, Jiménez Saioa, Vera Elena, Del Hoyo Marta, Gendive Miriam, Aguirre Lizar, Muñoz Gisela, Fernández Javier, Ruiz-Espinoza Cynthia, Fernández María Ángeles, Galdeano José Miguel, Rodríguez Irene, Román Lourdes, Rodríguez-Serna Amaya, Loureiro Begoña, Astigarraga Itziar
Division of Pediatric Metabolism, CIBER-ER, Cruces University Hospital, 48903 Barakaldo, Spain.
Biocruces Bizkaia Health Research Institute, 48903 Bizkaia, Spain.
Children (Basel). 2021 Nov 9;8(11):1026. doi: 10.3390/children8111026.
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.
经典型婴儿庞贝病（IPD）是一种罕见的溶酶体贮积症，其特征为严重的肥厚性心肌病和严重的肌肉无力。未经治疗，患儿会在出生后的头2年内死亡。尽管使用阿糖苷酶α进行酶替代疗法（ERT）已提高了生存率，但在许多情况下治疗效果不佳，且很大程度上取决于开始治疗时的年龄。本研究的目的是：（a）分析IPD患者诊断和开始特异性治疗过程中的不同阶段；（b）比较根据ERT开始治疗时的年龄（<1月龄与<3月龄）得出的临床和生化结果。在此，我们展示了2例IPD患者在未接受过ERT治疗的情况下，于3月龄前开始早期免疫调节治疗并从一开始就使用高剂量ERT后，获得了令人满意的临床和生化结果。尽管总体病情进展良好，但开始治疗时<1月龄的患者比开始治疗时<3月龄的患者预后更好，肥厚性心肌病更早恢复正常，同时肌酸激酶也恢复正常，这突出了在这种进行性疾病中，在不可逆的肌肉损伤发生之前尽早开始治疗的重要性。
