[Primary ciliary dyskinesia associated with a novel DNAH11 genetic variant: a case report].
Zhonghua Jie He He Hu Xi Za Zhi
; 47(9): 841-844, 2024 Sep 12.
Article
de Zh
| MEDLINE
| ID: mdl-39266483
ABSTRACT
Primary ciliary dyskinesia (PCD) is a heterogeneous genetic disorder associated with abnormalities in ciliary structure and function. Here, we report A 22-year-old non-smoking Chinese man with recurrent episodes of respiratory tract infections and sinusitis since high school period. The diagnosis is more complicated by the atypical symptoms and the late age of onset. We summarized the clinical characteristics of this case and literature review. This report aimed to improve the clinical understanding of primary ciliary dyskinesia.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Troubles de la motilité ciliaire
/
Dynéines de l'axonème
Limites:
Adult
/
Humans
/
Male
Langue:
Zh
Journal:
Zhonghua Jie He He Hu Xi Za Zhi
Année:
2024
Type de document:
Article
Pays de publication:
Chine