Primary ciliary dyskinesia: symptoms and treatment

Valerija Čukanova1

1Vilnius City Clinical hospital, Vilnius, Lithuania


Respiratory distress is one of the most common causes for an infant to be admitted to an intensive care unit. In 2011, respiratory distress accounted for 15,4% of total deaths among newborns in European maternity hospitals. In 2010, due to respiratory-related problems 1.4% of infants died in Lithuania, 1.6% – in Latvia and 2.9% – in Estonia. Respiratory distress usually occurs shortly after the birth and can be caused by transient tachypnea, meconium aspiration syndrome, respiratory distress syndrome and other complications. Main risk factors include: uncorrected diabetes, various infections, c-section during labor, premature birth (< 34 weeks) and asphyxiation. The diagnosis of respiratory distress is based on the following symptoms: tachypnea, nasal flaring, cyanosis, expiratory grunting, intercostal, subxiphoid and subcostal retractions. Causes of a respiratory distress vary among neonates and do not always involve  lung-related complications. In order to determine the cause of a respiratory disorder, it is necessary to differentiate between commonly occurring diseases. However, if symptoms of such diseases are not present, other illnesses must be taken into consideration. A widely documented cause of respiratory distress is primary ciliary dyskinesia, or immotile-cilia syndrome (ICS). It is inherited in an autosomal recessive way and causes dysfunction of the motile cilia. Clinical symptoms include various upper and lower respiratory tracts diseases, otologic complications such as chronic secretory otitis media and conductive hearing loss. In addition, symptoms can manifest in impaired fertility, situs inversus totalis and other types of heterotaxy. Average age of patients is 5 – 5,5 years. ICS is not widely researched disease. Although primary ciliary dyskinesia is not fully curable, healing of the symptoms and complications is possible through medications, physiotherapy, surgery and other medical therapies. The main aim of treatment is to restore and maintain functionality of lungs as well as control for complications. Patients should be prescribed individual and versatile treatments, combining medications and physiotherapy. Main groups of medications: antibiotics, mucolytics, bronchodilators, anti-inflammatory drugs. Given the severity of possible complications, it is crucial to educate parents, medical professionals and society in general. This will highly contribute towards avoiding future health-related issues and improving life quality of patients.

Keywords: Respiratory distress infants, primary ciliary dyskinesia, PCD, hyaline membrane disease, stratified epithelium diseases.