Primary Ciliary Dyskinesia Clinical Presentation

Updated: Oct 17, 2017
  • Author: Girish D Sharma, MD, FCCP, FAAP; Chief Editor: Denise Serebrisky, MD  more...
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Presentation

History

Clinical manifestations vary.

  • Ear, nose, and paranasal sinuses

    • Chronic persistent rhinorrhea, sensation of local fullness, and sinus pain

    • Anosmia, nasal character of speech, and halitosis

    • Recurrent acute otitis

    • Chronic otitis

    • Recurrent sinusitis

  • CNS - Hydrocephalus in a few cases

  • Reproductive system [14] - Male infertility (common)

  • Lower respiratory tract

    • Chronic productive cough and respiratory distress, especially in infants

    • Bronchospastic symptoms (eg, wheeze and cough), usually responsive to bronchodilator therapy

    • Recurrent or persistent atelectasis or pneumonia

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Physical

See the list below:

  • Nose and paranasal sinuses

    • Nasal mucosal congestion

    • Mucopurulent nasal discharge

    • Nasal obstruction

    • Mouth breathing and halitosis

    • Nasal polyps

  • Ears

    • Inflammation of tympanic membranes

    • Perforation with purulent discharge

    • Hearing loss

  • Lower respiratory tract

    • Respiratory distress

    • Retractions

    • Hypoxia

    • Crackles, wheeze

  • Other

    • Apex beat and heart sounds on the right side, if associated dextrocardia is present

    • Evidence of situs inversus, such as the spleen and liver on the incorrect side

    • Digital clubbing in cases with chronic and recurrent lower respiratory infections

 

PCD remains underrecognized due to lack of awareness of the clinical features of the disease [15]

A study by Leigh et al reported that four criteria-defined clinical features were statistically predictive of PCD in children and adolescents. The four features were laterality defect; unexplained, neonatal respiratory distress; early-onset, year-round nasal congestion; and early-onset, year-round wet cough. [16]

A study by Mullowney et al concluded that when encountering term neonates with unexplained respiratory distress, clinicians should consider PCD in those with lobar collapse, situs inversus, and/or prolonged oxygen therapy (>2 days). [17]

 

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Causes

Primary ciliary dyskinesia (PCD) is a genetic disorder, and it appears to follow the autosomal recessive inheritance pattern. Two genes directly implicated in autosomal recessive PCD are DNAI1 and DNAH5, which encode for components of the outer dynein arm complex. [18, 19, 20, 21] Mutations in these genes are detected in 38% of patients with PCD. Commercial testing for these mutations is available and may help with the diagnosis.

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