| Autor: |
Cristina Domínguez-González, Ana Hernandez-Voth, Javier Sayas Catalan, Marta Corral Blanco, Alba Castaño Mendez, Miguel Angel Martin, Carlos De Fuenmayor Fernandez de la Hoz, Victoria Villena Garrido |
| Jazyk: |
angličtina |
| Rok vydání: |
2020 |
| Předmět: |
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| Zdroj: |
BMJ Open Respiratory Research, Vol 7, Iss 1 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
2052-4439 |
| DOI: |
10.1136/bmjresp-2020-000774 |
| Popis: |
Background Recessive mutations in the thymidinekinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation.Research question What is the impact of nucleosides in respiratory function in patients with TK2-deficient myopathy?Study design and methods Retrospective observational study of patients treated with deoxycytidine and deoxythymidine. Evaluations were performed every 3 to 4 months after treatment during approximately 30 months. Forced vital capacity (FVC), maximuminspiratory and expiratory pressures (MIP/MEP), sniff nasal inspiratory pressure (SNIP), cough peak flow (CPF), arterial blood gas and nocturnal pulse oximeter (SpO2) were collected.Results We studied six patients, five of which were women, with a median age at onset of symptoms was 35.8 (range 5 to 60) years old. Patients presented a restrictive ventilatory pattern (median FVC of 50 (26 to 71)%) and severe neuromuscular respiratory weakness (MIP 38 (12 to 47)% and SNIP 14 (8 to 19) cmH2O). Four patients required ventilatory support before starting the treatment. FVC improved by 6%, proportion of sleep time with SpO2 |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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