[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
em 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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Otite Média
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Sinusite
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Otite Média com Derrame
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Síndrome de Kartagener
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Transtornos da Motilidade Ciliar
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
Limite:
Child, preschool
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Female
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Humans
Idioma:
Zh
Ano de publicação:
2022
Tipo de documento:
Article