Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China.
BMC Pediatr
; 22(1): 402, 2022 07 08.
Article
em En
| MEDLINE
| ID: mdl-35804324
ABSTRACT
BACKGROUND:
Primary ciliary dyskinesia (PCD) is a rare, inherited disorder of the motile cilia that exhibits genetic and clinical heterogeneity among different populations. PCD diagnosis remains challenging owing to the heterogeneity of associated clinical features and lack of a gold standard diagnostic test.OBJECTIVE:
The aim of this study was to analyze the clinical and genetic characteristics of a group of children with clinically suspected PCD in one region of China, with the goal of providing a more robust knowledge base regarding the genetic stratification underlying this disease in Chinese populations.METHODS:
We retrospectively analyzed the data from 38 patients with clinically suspected PCD who had undergone next-generation sequencing (NGS) between November 2016 and March 2021 in the respiratory department of a tertiary Children's hospital in Western China. The genetic features of the confirmed cases were summarized by reviewing data associated with other cohorts of Chinese children.RESULTS:
Overall, 16 patients were ultimately diagnosed with PCD with a median age of 8.5 years. All patients presented with a chronic wet cough, 93.75% exhibited chronic or recurrent sinusitis/rhinitis, 43.75% experienced recurrent wheezing, 56.25% reported respiratory symptoms present since infancy, 31.25% had a history of neonatal respiratory distress (NRD), and 25% exhibited otitis media. Only 18.75% of these patients exhibited laterality defects. High frequencies of DNAH11 mutations were detected by integrating data from PCD patient cohorts in China.CONCLUSION:
The high frequency of DNAH11 mutations may limit the utility of transmission electron microscopy (TEM) as a first-line approach to diagnosing PCD in China in the absence of other indicators.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Kartagener
/
Transtornos da Motilidade Ciliar
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
/
Incidence_studies
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Observational_studies
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Risk_factors_studies
Limite:
Child
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Humans
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Newborn
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article