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Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation: a case report

Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation: a case report
Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation: a case report
Primary ciliary dyskinesia (PCD) is an autosomal recessive condition affecting the structure and function of motile cilia thereby resulting in impairment of muco-ciliary clearance (1). The common manifestations in children include neonatal respiratory distress, early onset, chronic wet cough and recurrent respiratory infections leading to bronchiectasis, recurrent rhinosinusitis and middle ear infections (1). Around one-half of PCD patients have dextrocardia and/or situs inversus totalis (2). In the reproductive age group, PCD can be associated with male infertility and subfertility in females (1). Diagnosis of PCD involves identification of the clinical phenotype and a combination of tests that require expertise to conduct and interpret the results (3). The upfront screening tests are nasal nitric oxide measurement and high-speed video microscopy of nasal brushings for ciliary beat pattern and frequency (Figure 1) (3). Hallmark ciliary ultrastructure abnormalities and/or bi-allelic disease causing mutations in known PCD genes would be diagnostic (3). PCD can occur in the presence of normal ciliary ultrastructure and at present genetic testing can identify mutations in more than 80% of PCD patients (4). Due to lack of awareness among clinicians and non-availability of diagnostic tests, PCD is under diagnosed and under reported. We report a 14 year old boy with PCD due to DRC1/CCDC164 mutation from the Indian subcontinent.

Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313

Lucas, Jane (2019) Primary ciliary dyskinesia due to DRC1/CCDC164 gene mutation: a case report. Lung India. (In Press)

Record type: Article

Abstract

Primary ciliary dyskinesia (PCD) is an autosomal recessive condition affecting the structure and function of motile cilia thereby resulting in impairment of muco-ciliary clearance (1). The common manifestations in children include neonatal respiratory distress, early onset, chronic wet cough and recurrent respiratory infections leading to bronchiectasis, recurrent rhinosinusitis and middle ear infections (1). Around one-half of PCD patients have dextrocardia and/or situs inversus totalis (2). In the reproductive age group, PCD can be associated with male infertility and subfertility in females (1). Diagnosis of PCD involves identification of the clinical phenotype and a combination of tests that require expertise to conduct and interpret the results (3). The upfront screening tests are nasal nitric oxide measurement and high-speed video microscopy of nasal brushings for ciliary beat pattern and frequency (Figure 1) (3). Hallmark ciliary ultrastructure abnormalities and/or bi-allelic disease causing mutations in known PCD genes would be diagnostic (3). PCD can occur in the presence of normal ciliary ultrastructure and at present genetic testing can identify mutations in more than 80% of PCD patients (4). Due to lack of awareness among clinicians and non-availability of diagnostic tests, PCD is under diagnosed and under reported. We report a 14 year old boy with PCD due to DRC1/CCDC164 mutation from the Indian subcontinent.

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PCD_CCDC164_gene_mutation_CLEAN - Accepted Manuscript
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Accepted/In Press date: 16 September 2019

Identifiers

Local EPrints ID: 434423
URI: https://eprints.soton.ac.uk/id/eprint/434423
PURE UUID: 01e6d838-337d-4121-941b-7120a6f74ea7

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Date deposited: 23 Sep 2019 16:30
Last modified: 23 Sep 2019 16:30

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