ABSTRACT
Pompe disease is a rare genetic disorder with an estimated prevalence of 1:60.000. The two main phenotypes are Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). There is no published data from Spain regarding the existing number of cases, regional distribution, clinical features or, access and response to the treatment. We created a registry to collect all these data from patients with Pompe in Spain. Here, we report the data of the 122 patients registered including nine IOPD and 113 LOPD patients. There was a high variability in how the diagnosis was obtained and how the follow-up was performed among different centres. Seven IOPD patients were still alive being all treated with enzymatic replacement therapy (ERT) at last visit. Ninety four of the 113 LOPD patients had muscle weakness of which 81 were receiving ERT. We observed a progressive decline in the results of muscle function tests during follow-up. Overall, the Spanish Pompe Registry is a valuable resource for understanding the demographics, patient's journey and clinical characteristics of patients in Spain. Our data supports the development of agreed guidelines to ensure that the care provided to the patients is standardized across the country.
Subject(s)
Glycogen Storage Disease Type II , Humans , Glycogen Storage Disease Type II/epidemiology , Glycogen Storage Disease Type II/genetics , Glycogen Storage Disease Type II/therapy , alpha-Glucosidases/genetics , Phenotype , Registries , Enzyme Replacement Therapy/methodsSubject(s)
Boutonneuse Fever/complications , Demyelinating Diseases/etiology , Humans , Male , Middle AgedABSTRACT
No disponible
Subject(s)
Humans , Male , Middle Aged , Rickettsia conorii/pathogenicity , Demyelinating Diseases/etiology , Polyneuropathies/etiology , Boutonneuse Fever/complicationsABSTRACT
La finalidad de nuestra carta es comunicar un caso de insuficiencia respiratoria desencadenada tras la administración de nandrolona por vía parenteral; alertar sobre la automedicación, especialmente con fármacos de origen incierto; y resaltar la imposibilidad de analizar la composición de productos con excipiente oleoso
We report a case of respiratory failure related to parenteral nandrolone. We alert against automedication with drugs of uncertain origin and we underline the impossibility of studying the composition of products with oleous excipient
