Abstract
Background
Primary ciliary dyskinesia (PCD) is a group of autosomal recessive genetic diseases caused by abnormal ciliary ultrastructure and/or function, resulting in reduced ciliary clearance function or other dysfunctions. PCD is one of the causes of recurrent respiratory tract infections in children. At present, there is no gold standard for diagnosis. In patients clinically suspected with PCD, a variety of examination methods are available to assist in diagnosis, such as high-speed video microscopic imaging to analyze ciliary movement patterns, transmission electron microscopy to observe ciliary ultrastructure, genetic testing, and detection of nitric oxide content in nasal expiratory air.
Case Description
We present a case summary of the clinical data and treatment process of a child with PCD and short stature induced by Novel exon 1 of CCNO mutation (NM-021147.5) at c.323del, and the proband father and mother were heterozygous mutators, who was diagnosed and treated in the Pediatric Healthcare Department of our hospital. We treated the child with recombinant human growth hormone to increase the height, and the patient was also advised to improve nutrition, prevent and control infections, and encouraged sputum expectoration. We also recommended regular follow-up visits to the outpatient department, and to seek other symptomatic and supportive treatments as necessary.
Conclusion
The height and nutritional status of the child improved after treatment. We also reviewed relevant literature to help clinicians improve their understanding of this disease.
Abbreviations
PCD, primary ciliary dyskinesia; HSVA, high-speed video microscopy analysis; IF, immunofluorescence microscopy analysis; GHD, growth hormone deficiency; TEM, Transmission Electron Microscope; ExAC, Exome Aggregation Consortium; 1000G, The 1000Genomes Project; gnomAD, Genome Aggregation Database; GH, Growth Hormone; FDA, Food and Drug Administration.
Ethics Approval and Consent to Participate
The study was conducted in accordance with the Declaration of Helsinki (as was revised in 2013). The study was approved by Ethics Committee of the Zhuzhou Central Hospital (ZZCHEC2021121-01) and institution has approved to publish the case details.
Consent for Publish
The written informed consent has been provided by the legal guardian to have the case details and any accompanying images published.
Acknowledgments
We are particularly grateful to all the people who have given us help on our article.
Disclosure
The authors declare that they have no competing interests.