Evaluation of age at diagnosis and clinical findings of children with primary ciliary dyskinesia

Abstract

Objective: Patients with primary ciliary dyskinesia (PCD) may present with different clinical findings at different ages, and age at diagnosis may differ. We aimed to review clinical factors that affected age at diagnosis of patients with PCD.Study Design: All 70 patients with PCD who were followed in our pediatric pulmonology department were included. Demographic features, clinical findings, PrImary CiliAry DyskinesiA Rule (PICADAR) scores and pulmonary function tests of patients were recorded and clinical factors that affected age at diagnosis were evaluated. Results:The mean age at diagnosis was 8.3 ± 4.6 years. Most of patients (95.7%) had a persistent wet cough. The mean PICADAR score was 6.5 ± 3.2, and there was a negative correlation between PICADAR and age at diagnosis (r = −0.271, p = .023).The mean ages at diagnosis of patients with situs abnormality and recurrent wheezing were earlier than in patients without situs abnormality and recurrent wheezing (6.7 ± 4.3 and 6.8 ± 4.3, p = .002 vs. 9.8 ± 4.3 and 9.0 ± 4.6 years, p = .040, respectively). The mean age at diagnosis of patients with bronchiectasis was later than in patients without bronchiectasis (10.8 ± 3.9 and 6.9 ± 4.4 years, p = .001).Other clinical features were not statistically significant according to age at diagnosis (p > .05). There was no statistically significant relation between age at diagnosis and sex, sibling or relative with PCD and parental consanguinity (p > .05). Conclusion:Although most patients diagnosed with PCD had symptoms, the diagnosis may be delayed. High PICADAR score is a useful guide to evaluate PCD. Situs abnormality and recurrent wheezing could be clues for early diagnosis of PCD. Early diagnosis of PCD may prevent bronchiectasis.

Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants

“…This younger age at diagnosis for those with situs abnormalities may be attributed to higher clinical suspicion and earlier presentation, and this is consistent with the results in two prior studies. 30,31 Regarding TEM findings, in contrast to the current study that showed ODA loss and MTD + IDA loss to be equally the most common hallmark defects, ODA + IDA loss was the most common hallmark defect reported in previous studies in the Kingdom of Saudi Arabia (KSA), Oman, and Iran. [32][33][34] ODA absence as a Class 1 hallmark defect was not reported among the Iranian cohort.…”

A novel homozygous frameshift CCNO variant presenting with primary ciliary dyskinesia and selective IgM deficiency

“…Patients with scores of ≥5 should be evaluated for PCD. 6 The patient presented in this case report had a PICADAR score of 6. The relatively low PICADAR score might be another factor that delayed the PCD diagnosis.…”

“…The maximum score obtained using PICADAR is 14. Patients with scores of ≥5 should be evaluated for PCD 6 . The patient presented in this case report had a PICADAR score of 6.…”

Psychological status of mothers of children with cystic fibrosis and primary ciliary dyskinesia

“…In another multicenter study conducted in England, the mean age at diagnosis was 2.6 years 28 . In a recent study in Turkey, it was found to be 8.3 years 29 . Children are usually diagnosed with CF in the first months of life with the implementation of CF newborn screening in many countries 30 .…”

“…28 In a recent study in Turkey, it was found to be 8.3 years. 29 Children are usually diagnosed with CF in the first months of life with the implementation of CF newborn screening in many countries. 30 In our study, the age at diagnosis of children with PCD was significantly older than children with CF.…”