title: [Primary ciliary dyskinesia. A new phenotypic variant].
abstract: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by the inability of ciliated structures to beat effectively. Clinical course includes recurrent sinus and ear infections, chronic or recurrent bronchitis and infertility in men. Although several phenotypes have been described, lung function deterioration secondary to bronchiectasis becomes severe only rarely. That upper airway tract infections go unnoticed has not been reported. We report a case of PCD characterized by immotile sperm, severe obstructive respiratory disorder that required a sequential double lung transplant with the absence of recurrent sinus and ear infections.
authors.affiliation: Servicio de Medicina Interna (Neumología), Hospital General de Soria.
authors.forename: J A
authors.initials: JA
authors.lastname: Carretero Gracia
authors.forename: A
authors.initials: A
authors.lastname: Uliarte Ranea
authors.forename: J M
authors.initials: JM
authors.lastname: Martínez-Peñuela Virseda
mesh_terms: D000328:Adult; D002925:Ciliary Motility Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype