1. Is early detection of late-onset Pompe disease a pneumologist's affair? A lesson from an Italian screening study
- Author
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Confalonieri M, Vitacca M, Scala R, Polverino M, Sabato E, Crescimanno G, Ceriana P, Antonaglia C, Siciliano G, Ring N, Zacchigna S, Salton F, Vianello A, Mattei A, De Michele F, Triolo L, Culla G, Canessa P, Girbino G, Lusuardi M, Perretta E, De Michelis C, Renda T., Confalonieri, Marco, Vitacca, Michele, Scala, Raffaele, Polverino, Mario, Sabato, Eugenio, Crescimanno, Grazia, Ceriana, Piero, Antonaglia, Caterina, Siciliano, Gabriele, Ring, Nadja, Zacchigna, Serena, Salton, Francesco, and Vianello, Andrea
- Subjects
Adult ,Lung Diseases ,Male ,0301 basic medicine ,medicine.medical_specialty ,Biopsy ,Maximal Respiratory Pressures ,lcsh:Medicine ,Late onset ,Disease ,030105 genetics & heredity ,Acute respiratory failure ,Late Onset Disorders ,03 medical and health sciences ,FEV1/FVC ratio ,0302 clinical medicine ,Internal medicine ,Diagnosis ,Pulmonary Medicine ,medicine ,Humans ,Pharmacology (medical) ,Respiratory system ,Letter to the Editor ,Genetics (clinical) ,Aged ,Glycogen Storage Disease Type II ,business.industry ,Muscles ,lcsh:R ,Muscle weakness ,alpha-Glucosidases ,General Medicine ,Middle Aged ,Dried blood spot ,Late-onset Pompe disease ,Respiratory high dependency care unit ,Noninvasive ventilation ,Early Diagnosis ,Italy ,Respiratory failure ,Female ,Dried Blood Spot Testing ,medicine.symptom ,business ,030217 neurology & neurosurgery ,Diagnosi - Abstract
Background Late-onset Pompe disease (LOPD) is a recessive disease caused by α-glucosidase (GAA) deficiency, leading to progressive muscle weakness and/or respiratory failure in children and adults. Respiratory derangement can be the first indication of LOPD, but the diagnosis may be difficult for pneumologists. We hypothesize that assessing the GAA activity in suspected patients by a dried blood spot (DBS) may help the diagnosis of LOPD in the pneumological setting. Population and methods We performed a multicenter DBS survey of patients with suspected LOPD according to a predefined clinical algorithm. From February 2015 to December 2017, 140 patients (57 ± 16 yrs., 80 males) were recruited in 19 Italian pneumological units. The DBS test was performed by a drop of blood collected on absorbent paper. Patients with GAA activity
- Published
- 2019
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