[Primary ciliary dyskinesia. A new phenotypic variant]

Autor:	J A, Carretero Gracia, A, Uliarte Ranea, J M, Martínez-Peñuela Virseda
Rok vydání:	2000
Předmět:	Adult Male Phenotype Humans Ciliary Motility Disorders
Zdroj:	Archivos de bronconeumologia. 36(4)
ISSN:	0300-2896
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::86acacc6290658394803be63725ab884 https://pubmed.ncbi.nlm.nih.gov/10846607 Zobrazit plný text záznamu Full Text from ScienceDirect