[Sinusitis, otitis media and diffuse bronchiectasis in both lungs].
Zhonghua Jie He He Hu Xi Za Zhi
; 45(11): 1117-1120, 2022 Nov 12.
Article
in Zh
| MEDLINE
| ID: mdl-36344229
ABSTRACT
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive or X-linked biallelic mutations inherited disease, characterized by motile cilia dysfunction. Typical manifestations include bronchiectasis, secretory otitis media, sinusitis, situs inversus, and infertility. PCD often needs to be differentiated from cystic fibrosis (CF) because of similar clinical manifestations. In this paper, a juvenile female who presented with recurrent cough and expectoration with fever since early childhood, had a history of secretory otitis media and sinusitis, and had been considered for the diagnosis of CF. After the discovery of compound heterozygous mutations in PCD related pathogenic genes by gene sequencing, combined with the clinical manifestations and imaging characteristics, PCD was finally diagnosed.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Otitis Media
/
Sinusitis
/
Otitis Media with Effusion
/
Kartagener Syndrome
/
Ciliary Motility Disorders
Type of study:
Diagnostic_studies
/
Etiology_studies
Limits:
Child, preschool
/
Female
/
Humans
Language:
Zh
Journal:
Zhonghua Jie He He Hu Xi Za Zhi
Year:
2022
Document type:
Article