PRIMARY CILIARY DYSKINESIS
 
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PRIMARY CILIARY DYSKINESIS

 

DEFINITION:

A congenital syndrome of the bronchus characterized by ciliary dyskinesis resulting in chronic bronchitis, otitis media, and sinusitis.

EPIDEMIOLOGY:

  • incidence: 1/20,000
  • age of onset:
    • ?
  • risk factors:
    • ?

PATHOGENESIS:

1. Background

  • considered a syndrome due to a generalized defect of microtubules
  • primary ciliary dyskinesis arises from a multitude of genetic abnormalities involving the cilia and their supporting structures within the lining of the mucosal cells of the respiratory tract, intestines, and genitourinary tract
  • the cilia and supporting structures are made up of at least 100 proteins and mutations involving any one of these proteins can lead to a syndrome of wide clinical severity
  • impairment of ciliary function may lead to abnormalities in various systems:

1. Respiratory

  • chronic otitis media (OM) & sinusitis due to the absence of ciliary clearance from the middle ears, eustachian tubes, and sinus cavities
  • chronic bronchitis due to the inadequate clearance of mucous and antigen from the airways

2. Gastrointestinal

  • situs inversus due to a disruption of the ciliary action of embryonal tissue responsible for normal rotation of the gut during embryogenesis

3. Genitourinary

  • infertility due to sperm immotility

CLINICAL FEATURES:

1. Respiratory Manifestations

  • chronic otitis media
  • chronic sinusitis
  • chronic bronchitis with late finding of bronchiectasis
  • chronic or recurrent wheezing
  • chronic cough

2. Others

  • anosmia
  • headaches
  • infertility
  • situs inversus

 

  • Note: the diagnosis is usually made clinically with chronic OM, sinusitis, and bronchitis in a patient with situs inversus +/- infertility and confirmed by tracheal or nasal mucosa biopsy

    • INVESTIGATIONS:

    1. Diagnosis

    1. Biopsy

    • electron microscopic examination of cilia
      • abnormal ultrastructure of the cilia:
        • different types (I-V) based upon the type of defect:
        • lack of one or both dynein arms
        • defect in central microtubular structure
    • obtained by brushing or biopsy of the trachea at bronchoscopy or by nasal mucosal biopsy
    • not during or after an acute upper respiratory tract infection
    • high FP and FN rates (i.e., decreased ciliary activity after an acute viral illness)

    2. Imaging Studies

    1. Chest/Abdominal X-Rays

    • situs inversus
    • bronchiectasis

    3. Others

    • spermatozoal dysmotility

    MANAGEMENT:

    1. Supportive

    • chest physiotherapy

    2. Medical

    • bronchodilators may be beneficial
    • antibiotics for pulmonary infections, serous OM, and sinusitis (early infections include Pneumococcus and H. flu)
    • see "Sinusitis - Management"

    3. Prognosis

    • average life expectancy is unknown
    • significant morbidity

     

     

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