RESUMEN
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.
RESUMEN
Infants born small for gestational age (SGA) are known to have increased risk of developing several pathologies, including the metabolic syndrome, when they grow up. It has been described that both the growth pattern of these children as well as the risk of their presenting future metabolic disorders can be influenced by the expression of adipokines. Among them, chemerin has demonstrated to be implicated in lipid and glucose metabolism, presenting higher circulating concentration in diabetic and obese subjects. Thus, the aim of this study was to analyze the association of anthropometric parameters and plasmatic biochemical parameters with circulating chemerin concentration in SGA children. This prospective, longitudinal study was carried out in plasma samples of Caucasian children born SGA at Hospital Universitario de Álava-Txagorritxu. Significant positive correlations were observed between chemerin concentrations at 3 months and insulin values at 3 months and also with triglyceride levels at 24 months. These associations were maintained after adjustment by anthropometric parameters. Therefore, we suggest that circulating chemerin concentration, measured at an early age, might be an indicator of future metabolic alterations in SGA children.
