Primary Ciliary Dyskinesia

Summary

What is it?
Care
Advice for parents
Research
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What is it?

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease that affects the cilia found in the respiratory tract. 

These minute structures that line our airways are essential for evacuating mucous (secretions) and impurities. If they are not functioning correctly this results in recurring lung infections, chronic sinusitis and often respiratory distress at birth that are an indicator for the diagnosis. Children with PCD can also develop complications such as frequent otitis and, in some cases, a malformation known as “situs inversus” in which the organs are reversed or mirrored.  

Care

At the Children’s Hospital, patients with PCD receive the same care as  those with cystic fibrosis, a disease for which the hospital is a Belgian reference centre. Following diagnosis, a multidisciplinary team  of doctors (pulmonary paediatricians and ENT specialists), a nurse, a dietician, a physiotherapist, a social worker, a psychologist ad a secretary work together to draw up a personalised treatment plan. This plan includes respiratory physiotherapy associated with aerosol therapy to help unblock the respiratory  tract and improve the pulmonary function, dietary recommendations and psychological and social support for patients and their family. Our pharmacist checks for medicine interactions and contributes to the choice  of antibiotics. The aim is also to teach patients to learn to live with the disease.

Advice for parents

The role of parents is essential in ensuring compliance with the lifelong day-to-day treatment that patients with PCD must respect, this including medication and respiratory physiotherapy sessions.

Here are some additional recommendations:

  • practice rigorous hygiene to reduce the risk of infections
  • avoid seasonal infections such as flu through vaccination
  • encourage regular physical activity adapted to the child to favour the respiratory function and strengthen muscles
  • adopt a balanced diet  
  • maintain a healthy environment (no exposure to smoking, damp or mould)
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Research

At the Children’s Hospital, at the time of diagnosis and during follow-up  patients with PCD carry out sophisticated respiratory function tests (LCI - Lung Clearance Index) that enable us  to better evaluate their pulmonary function and adapt treatment acordingly. 

A recent study that we published made it possible to show the benefits of this technique:   Wael Alkoussa, Laurence Hanssens,Valerie Sputael, Frederico De Lucia, Christine Quentin. A Pilot Study of Lung Clearance Index as a Useful Outcome Marker in the Follow-Up of Pediatric Patients with Non-Cystic Fibrosis Bronchiectasis? Children 2023, 10(5), 791; https://doi.org/10.3390/children10050791.

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