[Primary ciliary dyskinesia. A new phenotypic variant].
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.
Carretero Gracia
J A
JA
Servicio de Medicina Interna (Neumología), Hospital General de Soria.
Uliarte Ranea
A
A
Martínez-Peñuela Virseda
J M
JM
D000328:Adult; D002925:Ciliary Motility Disorders / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype