title: Primary alveolar hypoventilation and XXXXY chromosopathy.
abstract: 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.
authors.affiliation: Pneumology Dept., Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. dsamolski@hsp.santpau.es
authors.forename: D
authors.initials: D
authors.lastname: Samolski
authors.forename: A
authors.initials: A
authors.lastname: Antón
authors.forename: M
authors.initials: M
authors.lastname: Mayos
authors.forename: M
authors.initials: M
authors.lastname: Subirana
authors.forename: R
authors.initials: R
authors.lastname: Güell
mesh_terms: D000328:Adult; D000782:Aneuploidy; D006801:Humans; D007621:Karyotyping; D008297:Male; D017286:Polysomnography; D011175:Positive-Pressure Respiration / Q000379:methods; D012729:Sex Chromosome Aberrations; D025064:Sex Chromosome Disorders; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000628:therapy; D013577:Syndrome