Case Report: A Novel Homozygous Mutation of Cyclin O Gene Mutation in Primary Ciliary Dyskinesia with Short Stature

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 pre...

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Bibliographic Details
Published in:Pharmacogenomics and personalized medicine 2023-05, Vol.16, p.443-448
Main Authors: Gong, Dai, Tang, Qiong, Yan, Li-Juan, Ye, Xiao-Min, Yang, Yi-Can, Zou, Li, Ji, Qing, Wen, Xiang-Lan
Format: Article
Language:English
Subjects:
Case Report
Diagnosis
Gene mutations
gene test
Genes
Genetic aspects
Genetic screening
Health aspects
Infection
Movement disorders
Nitric oxide
primary ciliary dyskinesia
reduced ciliary clearance function
Respiratory tract diseases
short stature
Somatotropin
Stature, Short
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Summary: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. 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. 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.
ISSN:1178-7066
1178-7066
DOI:10.2147/PGPM.S406445