Case Reports
Vol. 65 No. 3 (2006): Pulmonary series
https://doi.org/10.4081/monaldi.2006.564

Primary alveolar hypoventilation and XXXXY chromosopathy

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Received: 11 February 2016
Published: 11 February 2016
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Primary alveolar hypoventilation, chromosome diseases, noninvasive ventilation

Authors

D. Samolski
dsamolski@hsp.santpau.es
Pneumology Dept. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
A. Antón
Pneumology Dept. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
M. Mayos
Pneumology Dept. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
M. Subirana
Cardiology Dept. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
R. Güell
Pneumology Dept. Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
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.

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“Primary Alveolar Hypoventilation and XXXXY Chromosopathy”. 2016. Monaldi Archives for Chest Disease 65 (3). https://doi.org/10.4081/monaldi.2006.564.

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