Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

摘要: After a Pompe disease diagnosis is confirmed in infants identified through newborn screening (NBS), when and if to start treatment with enzyme replacement therapy (ERT) alglucosidase alfa must be determined. In classic infantile-onset disease, ERT should as soon possible. Once started, regular, routine follow-up necessary monitor for effects, progression, adverse effects. Decision-making or late-onset (LOPD) more challenging because patients typically have no measurable signs symptoms predictable time of symptom onset at NBS. With LOPD, adequate, ongoing assessments progression are important track state adjust care before after started. Because numerous tests used variable frequencies, standardized approach across centers lacking. Significant variability patient may result missed opportunities early intervention. Management requires comprehensive, multidisciplinary timely disease-specific interventions that target the underlying process symptom-specific manifestations. Regardless how identified, all who require coordinated medical tailored individual needs throughout their lives. The Disease Newborn Screening Working Group identifies key considerations starting during ERT; summarizes what comprises an indication provides guidance on determine appropriate management monitoring guide frequency type