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Lookup NU author(s): Roberto Fernandez-Torron, Professor Jordi Diaz ManeraORCiD
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© 2019Introduction and objectives: Pompe disease is a rare autosomal recessive disorder produced by a deficiency of acid maltase. This deficit produces an accumulation of glycogen in tissues. Clinically it is mainly characterized by limb girdle and respiratory muscle weakness. In 2013, we developed the Spanish Pompe Registry. The objective of this article was to analyse the characteristics of the first 49 patients and disclose the existence of this registry within the medical community. Material and methods: An observational retrospective study was undertaken. We analysed the 49 patients included in the Spanish Registry of Pompe Disease from May 2013 to October 2018. Results: Patients were visited at 7 different Spanish hospitals. Twenty-six patients were women and 23 were men. The average age at the time of the analysis was 47.2 years. Ten patients were asymptomatic. The mean age of onset of symptoms was 29, and low limb girdle weakness was the most frequent initial symptom. Of the patients, 49% had respiratory involvement, and 70.8% of them required non-invasive mechanical ventilation. The most common mutation found was IVS1−13T>G in 85.3% of the patients. All symptomatic patients received treatment with ERT. Conclusions: This registry allows us to know the clinical and genetic characteristics of adult patients with Pompe disease in Spain. Moreover, it can be the basis for future studies of natural history to understand the impact of ERT in the course of the disease.
Author(s): Alonso-Perez J, Segovia S, Dominguez-Gonzalez C, Olive M, Mendoza Grimon MD, Fernandez-Torron R, Lopez de Munain A, Munoz-Blanco JL, Ramos-Fransi A, Almendrote M, Illa I, Diaz-Manera J
Publication type: Article
Publication status: Published
Journal: Medicina Clinica
Year: 2020
Volume: 154
Issue: 3
Pages: 80-85
Online publication date: 26/06/2019
Acceptance date: 21/03/2019
ISSN (print): 0025-7753
ISSN (electronic): 1578-8989
Publisher: Ediciones Doyma, S.L.
URL: https://doi.org/10.1016/j.medcli.2019.03.036
DOI: 10.1016/j.medcli.2019.03.036
PubMed id: 31253477
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