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Updated: Dec 24 2021

Primary Ciliary Dyskinesia

Images inversus.jpg
  • 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
  • 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
  • Differential
    • Cystic fibrosis
      • distinguishing factor
        • patients with cystic fibrosis will have an abnormal CFTR genetic test and sweat chloride test
    • Making the diagnosis
      • based on clinical presentation and supported by testing
        • e.g., nasal nitric oxide measurement, high-speed videomicroscopy, and transmission electron microscopy
  • Treatment
    • Management approach
      • management is based on what is known for cystic fibrosis and bronchiectasis
  • Prognosis
    • Long-term outcomes depend on respiratory severity
    • Lifespan is typically expected to be normal
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