Primary alveolar hypoventilation and XXXXY chromosopathy
| Autor: | D. Samolski, A. Antón, M. Mayos, M. Subirana, R. Güell |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: | |
| Zdroj: | Monaldi Archives for Chest Disease, Vol 65, Iss 3 (2016) |
| Druh dokumentu: | article |
| ISSN: | 1122-0643 2532-5264 |
| DOI: | 10.4081/monaldi.2006.564 |
| Popis: | The association of primary alveolar hypoventilation (PAH) and chromosomic diseases has not been described previously. A 19 year-old man with Fraccaro’s syndrome (XXXXY karyotype) was admitted to evaluate chronic hypercapnic respiratory failure, pulmonary arterial hypertension and cor pulmonale. PAH was diagnosed. As effective treatment, such as non-invasive positive pressure ventilation (NIPPV), is available for this disorder we should intensify the search for PAH in patients with chromosome disease. |
| Databáze: | Directory of Open Access Journals |
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