Updated: 8/14/2018

Primary Ciliary Dyskinesia

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Snapshot
  • A 6-year-old boy presents to his pediatrician's office due to fever, frequent sputum production, and rhinorrhea. This is the 4th time this year that he has been having these symptoms, which was previously managed with bedrest and antibiotic therapy. The patient was born at term to a 29-year-old woman via spontaneous vaginal delivery. The birth was complicated by mild respiratory distress requiring oxygen supplementation for approximately 1 week. Vital signs are significant for fever, mild tachypnea, and an oxygen saturation of 94% on room air. On physical exam, there is sinus tenderness over the maxillary sinuses and crackles and wheezes on pulmonary auscultation. A radiograph of the chest is performed, which demonstrates ring shadows, tramlines, and dextrocardia.
Introduction
  • Clinical definition
    • an inherited disorder that affects motile cilia
  • Epidemiology
    • incidence
      • ~50% of patients have situs inversus
        • describes that the visceral organs are reversed
          • e.g., dextrocardia
    • demographics
      • most cases present in childhood (~5-6 years of age)
  • Etiology
    • autosomal recessive mutations that affect motile cilia production or function
      • this is a heterogenous disorder
  • Pathogenesis
    • mutations that impair motile cilia function results in
      • abnormalities in organ laterality
        • situs inversus
      • impaired mucociliary clearance 
        • places the patient at risk of developing airway infection, disease, and distress
      • disorders of infertility
  • Associated conditions
    • Kartagener syndrome
      • characterized by patients having the triad
        • situs inversus 
        • chronic sinusitis
        • bronchiectasis
  • Prognosis
    • long-term outcomes depend on respiratory severity
    • lifespan is typically expected to be normal
Presentation
  • Symptoms
    • respiratory
      • newborns may present with mild respiratory distress
      • recurrent upper and lower respiratory infections
    • rhinosinusitis (a cardinal feature)
      • patients may have headache
    • chronic secretory otitis media
      • accompanied by recurrent acute otitis media
      • can result in a conductive hearing loss
    • impaired or decreased fertility
    • ectopic pregnancy
  • Physical exam
    • pulmonary exam
      • auscultatory crackles
      • wheezes
    • situs inversus
Imaging
  • Radiography 
    • indication
      • performed in patients suspected of having primary ciliary dyskinesia
        • radiography is preferred in children
    • findings
      • situs inversus
      • mucoid impaction
      • bronchiectasis
  • Computerized tomography (CT) scan
    • indication 
      • performed in patients suspected of having primary ciliary dyskinesia
        • CT scan is preferred in adults
    • findings
      • situs inversus
      • bronchiectasis
Studies
  • Making the diagnosis
    • based on clinical presentation and supported by testing
      • e.g., nasal nitric oxide measurement, high-speed videomicroscopy, and transmission electron microscopy
Differential
  • Cystic fibrosis 
    • distinguishing factor
      • patients with cystic fibrosis will have an abnormal CFTR genetic test and sweat chloride test
Treatment
  • Management approach
    • management is based on what is known for cystic fibrosis and bronchiectasis
Complications
  • Respiratory
    • bronchiectasis
    • recurrent airway infection
  • Otolaryngology
    • conductive hearing loss secondary to chronic otitis media
  • Reproductive
    • abnormal sperm motility in men
    • abnormal cilia motility in the fallopian tubes of women
      • may result in ectopic pregnancy

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