Diagnostics

Ved diagnostikk bruker man flere metoder samtidig: Grundig sykdomshistorie, kliniske undersøkelser hvor legen ser i nesen og ørene til pasienten og lytter på lungene, høyde- og vektmålinger, oksygennivå i blodet målt med saturasjonsmåling, gjennomgang av spørreskjema og sugeprøve av slim fra luftveiene (larynxaspirat) for mikrobiologisk analyse.

Persistent “cold-like” symptoms and lung infections

In healthy individuals, cilia create a coordinated "wave-like motion" to clear bacteria and small particles from the lungs and up into the throat.

In someone with PCD, cilia do not function as they should. They may beat too quickly, too slowly, or in an uncoordinated manner. As a result, the body takes longer to expel mucus, allowing bacteria and particles to remain in the lungs, which increases the risk of infections.

This often leads to cold-like symptoms. However, this is not a common cold but rather a chronic buildup of mucus in the airways, which, without proper management, can lead to frequent bacterial infections. Most PCD patients experience this constant, cold-like condition.

Gea Restad, mother of a child with PCD and a trained nurse, along with Ann-Cathrin Linqvist Leonardsen, has written an article titled "Frequent Respiratory Infections Could Be a Symptom of an Inherited Disease" in the journal Sykepleien. She writes, “Children who are constantly ‘cold’ may have the rare disease primary ciliary dyskinesia. The path to a diagnosis can be long, and some parents feel that they are not taken seriously by healthcare professionals.” She further describes parents’ experiences with the challenges of being taken seriously and obtaining a diagnosis.