Impact of Primary Ciliary Dyskinesia Clinical Features on Time Lag to Diagnosis in Egypt: A Retrospective Cohort Study

Abstract

Background: Primary ciliary dyskinesia (PCD) is a chronic respiratory disease that causes chronic morbidity and affects overall health. Despite the presence of symptoms early in the patient's life, diagnosis is frequently delayed. This delay can be burdensome, making the cases complicated by hearing impairment and bronchiectasis. This could be prevented or delayed when the diagnosis is made early and therapeutic interventions are put in place at the appropriate time. The study aims at determining the effect of the main PCD symptoms, including situs abnormalities and neonatal respiratory distress (NRD), on the age of diagnosis.

Methods: Retrospective study was conducted in Alexandria University Children’s Hospital by reviewing the medical records of 43 PCD patients. The clinical features, the age of onset of the symptoms, and the age at diagnosis were all retrieved.

Results: The mean age at diagnosis and the mean diagnostic delay for the entire study cohort were 5.92 and 5.87 years, respectively. The mean age at diagnosis for patients with situs abnormalities and those with a history of NRD was 5.1 and 4.65 years, respectively. PCD patients with normal situs and those without history of NRD were diagnosed at older ages.

Conclusion: PCD diagnosis is usually delayed. Either the presence of situs abnormalities or a history of NRD promotes early suspicion of PCD and can hasten the diagnostic process. Although having an impact on the age of diagnosis, situs abnormalities did not achieve the same degree of statistical significance as NRD.