Primary ciliary dyskinesia: mechanisms and management.
Appl Clin Genet
; 10: 67-74, 2017.
Article
em En
| MEDLINE
| ID: mdl-29033599
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia that is predominantly inherited in an autosomal-recessive fashion. It is associated with abnormal ciliary structure and/or function leading to chronic upper and lower respiratory tract infections, male infertility, and situs inversus. The estimated prevalence of primary ciliary dyskinesia is approximately one in 10,000-40,000 live births. Diagnosis depends on clinical presentation, nasal nitric oxide, high-speed video-microscopy analysis, transmission electron microscopy, genetic testing, and immunofluorescence. Here, we review its clinical features, diagnostic methods, molecular basis, and available therapies.
Texto completo:
1
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2017
Tipo de documento:
Article