Primary Ciliary Dyskinesia

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Top Contributors - Blanca Fernandez Burgos  

Introduction

Primary ciliary dyskinesia is an hereditary illness in which there is a dysfunction of the cilia located in the respiratory tissue or gonadal tissue among other. The main difference between primary and secondary ciliary dyskinesia is that secondary is caused by an infection or inflammation without a genetic explanation.

We can distinguish three types of primary ciliary dyskinesia:

• Motionless respiratory cilia
• Ineffective ciliary movement
• Cilia absent (ciliary aplasia) this is the least frequent type.

Among the different types of respiratory cilia the mobile cilia make the most important defense mechanism of our body, the mucociliary clearance. They carry out an oscillatory movement which allows the cleaning and the elimination of secretions in the airway.

Clinical presentation

Among the main manifestations of primary ciliary dyskinesia we find:

• Recurrent respiratory infections, which are usually complicated by bronchiectasis at older ages.
• Chronic sinusitis
• Ear infections
• Infertility in male patients
• Pectus Excavatum
• Situs inversus (rare heart condition characterized by abnormal positioning of the heart) this anomaly is found in approximately 60% of patients, facilitating the diagnosis.

Most of the symptoms are chronic, on a daily basis and start at very early ages. Unfortunately, most of the symptoms and signs of the disease are very common in healthy children, and this is why the diagnosis is made at older age.

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