Hva er PCD ?

WHAT IS PRIMARY CILIARY DYSKINESIA (PCD)?
Primary Ciliary Dyskinesia (PCD) is a term for inherited disorders of the structure and/or function of cilia. The disorders include PCD with situs inversus (also known as Kartagener syndrome), PCD without situs inversus and ciliary aplasia. It has also been called immotile cilia syndrome.
People with PCD do not have functioning cilia. Their cilia may be completely paralyzed (immotile cilia), beat inadequately or in an ineffective fashion (dyskinetic cilia), or may not have developed at all (ciliary aplasia). Without functioning cilia, people with PCD are unable to protect their respiratory system. Frequent infections of the lungs, ears, throat, and sinuses are common.
It is estimated that as many as 25,000 Americans and 400,000 people worldwide suffer from PCD. To date, only a small number of these individuals have been identified. Among the reasons for this:
Non-specialist clinicians may not be familiar with the disorder
PCD mimics other, more common disorders
The testing process for diagnosis is demanding and expensive
Without prompt diagnosis and aggressive treatment, people with PCD may sustain permanent damage to their lungs, ears, and sinuses.
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What are cilia and why are they important?
The respiratory system includes upper respiratory structures (sinuses, ears, nose, pharynx) and lower respiratory structures (lungs containing bronchi, bronchioles, and alveoli, and respiratory muscles). The health of the entire system is managed to a large degree by the interaction of billions of cilia (microscopic hair-like cells) beating debris-laden mucus to the large airways where it can be coughed out. When this system (cilia, mucus, and cough) is working, it keeps the respiratory system clean and functioning. When any one of the three components is ineffective, however, the system gets overwhelmed and chronic inflammation and infection may result.


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What are consequences of PCD?
Adequate mucociliary clearance (MCC) relies on the effective interaction of two components: mucus in appropriate quantities with healthy physical qualities and cilia with an effective length and adequately vigorous beat. If either component is impaired, respiratory defense may be compromised, setting the stage for infection of sinuses, ears and lungs. Over time repeated infections of the upper and lower respiratory tract result in scarring and permanent obstruction of the airways (bronchiectasis) and damage to ears and sinuses.
The role of cilia in other areas of the body, such as the fallopian tubes and ventricles of the brain, is not yet well understood. However, the importance of adequate ciliary function may be inferred because people with PCD sometimes manifest problems in organs that rely on ciliary function.
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What are symptoms of PCD?
PCD is frequently mistaken for cystic fibrosis or "atypical" asthma. However, unlike CF patients, people with PCD will have normal sweat chloride values. The typical PCD patient has a history that includes neonatal respiratory distress (coughing, gagging, choking, lung collapse as a newborn), chronic cough, pneumonia, bronchitis, atelectasis, excess mucus, and difficulty clearing lung secretions. Otitis media (middle ear infections) and hearing loss are universal in this patient population, as are severe sinus infections
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What other body systems are affected?
Because cilia are also found in the ventricles of the brain and in the reproductive organs, people with PCD may experience chronic headache, hydrocephalus, and fertility disorders. Males may be infertile or sub-fertile, and females may have problems with sub-fertility, miscarriage, and ectopic (tubal) pregnancy.
Additionally, it is believed that the movement of the cilia is responsible for organ placement in the developing embryo. Approximately half the PCD population has a condition called Situs inversus totalis where the abdominal organs, including the heart, liver, spleen, and intestines, are on the opposite side of the abdominal cavity. This subset of patients is said to have Kartagener syndrome (KS). The organs may function normally in their mirror-image position, but serious heart, liver, and spleen defects have also been reported.
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How is PCD diagnosed?
Currently, the only definitive way to diagnose PCD is through a biopsy of tissue taken from the lungs or sinuses. A screening test which measures nasal nitric oxide is being developed. There is research underway at the University of North Carolina at Chapel Hill to identify the genes responsible for PCD and develop genetic testing that would make diagnosis easier.
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Consequences of Delayed Diagnosis
Early diagnosis and aggressive prophylactic treatment are crucial to prevent or decrease the respiratory damage associated with PCD. Although recurrent respiratory infection cannot be avoided entirely, aggressive treatment can greatly reduce the frequency and severity of exacerbations. With appropriate care, PCD is more manageable for patients, caregivers, and the healthcare team. Without diagnosis and treatment, people with PCD may experience:
Frequent respiratory exacerbations
Repeated hospitalizations
Unnecessary surgical intervention
Bronchiectasis
Lung transplantation
Quality of life losses
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Treatment
With any chronic lung condition, the goal is to maintain healthy tissue for as long as possible. People with PCD require assistance to keep their airways clear and free of infection. Airway clearance therapy has evolved considerably from the days of "clapping" or "pounding" secretions from the airways, but it is still a time-consuming process.
Strategies for keeping the upper airways clear include routine washing and suctioning of the sinus cavities and ear canals.
Liberal use of antibiotics is also required. Retained mucus is an ideal breeding ground for infection, and people with PCD are prone to harboring particularly nasty bugs. Oral, intravenous, and inhaled antibiotics are all routinely used.
Bronchodilators, mucolytics (mucus thinners), and steroids are also treatment components in PCD.
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Prognosis
There is a large spectrum of severity in ciliary disorders, with the most severely affected individuals dying in utero or early infancy. However, with aggressive treatment and the promise of organ transplantation, most people with PCD can expect to live long and productive lives.