Primary ciliary dyskinesia in children: a case report and literature review
10.3760/cma.j.cn101721-20220912-000416
- VernacularTitle:儿童原发性纤毛运动障碍1例及文献复习
- Author:
Xin LI
1
;
Yue CHEN
;
Bailing ZHOU
;
Ting ZHANG
Author Information
1. 云南省昆明市儿童医院急诊科，昆明 650228
- Keywords:
Children;
Primary ciliary dyskinesia;
Gene
- From:
Clinical Medicine of China
2023;39(1):19-23
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical features and diagnostic methods of primary ciliary dyskinesia (PCD).Methods:A case of PCD diagnosed by Kunming Children's Hospital was analyzed retrospectively (including general information, clinical characteristics, auxiliary examination results), and the literature was reviewed.Results:The patient, an 8-year-old female, went to hospital for repeated cough and suffered from pneumonia and sinusitis repeatedly in the past. The electron microscope of cilia biopsy showed that the number of cilia was reduced. The mutation of c.7615T>C (p.W2539R) in DNA H5 gene located in chr5-13,809,290 was detected by gene test, so the patient was diagnosed as PCD.The mutation site was a new mutation site.Conclusion:PCD is a rare disease in children. Electron microscopy and genetic examination are helpful to the diagnosis of PCD. Children with recurrent respiratory tract infection and wet cough should be alert to the possibility of PCD.
