Primary ciliary dyskinesia: age at diagnosis and symptom history

Abstract

Age at diagnosis and the symptom history of children with primary ciliary dyskinesia (PCD) are described by reviewing the case notes in the paediatric PCD clinic. Mean age at diagnosis was 4.4 y despite a history of neonatal respiratory distress in 37/55 cases, situs inversus in 38/55 cases and early onset troublesome rhinitis in 42/55. Conclusion: Diagnosis of PCD is often delayed despite the presence of typical symptoms early in life. The key clinical features of unexplained neonatal respiratory distress, early onset rhinitis, situs inversus and a productive cough are highlighted, which, especially when occurring in combination, makes early referral for specific testing for PCD mandatory.

Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children

“…Even fewer data are available on the range of severity of symptoms and functional limitations in various age groups, and on the natural history of this disease and whether it can be influenced by treatment [8][9][10][11][12]. An unsatisfactory picture of longterm outcome was drawn by NOONE et al [9] in a cross-sectional study during 1994-2002 of 78 subjects with PCD (including 31 children).…”

“…Ear symptoms (recurrent otitis media and glue ear) are a frequent complication that can require multiple interventions, including repeated courses of antibiotics. Diagnosis of PCD is frequently delayed [8], in part because patients present with symptoms (rhinitis, secretory otitis media, cough and recurrent bronchitis) that are common in healthy children [2]. In table 2, the clinical aspects of PCD are displayed by various age groups.…”

“…Although there is no proven evidence that early diagnosis is beneficial, there is at least suggestive evidence in the literature and a consensus amongst those caring for patients with PCD. In one case series, bronchiectasis on diagnosis was only seen in those diagnosed aged .4 yrs [8], and, in another, lung function on diagnosis was worse in those diagnosed as adults [9], suggesting that early diagnosis is beneficial.…”

“…In table 2, the clinical aspects of PCD are displayed by various age groups. A positive family history of PCD is an indication for performing diagnostics, since this accounted for 10% of cases in one series [8]. Siblings of probands should also have PCD excluded.…”

“…In clinical samples of patients with diffuse bronchiectasis, PCD is naturally more common; it might account for up to 13% of all patients with bronchiectasis, being relatively more common in North African than in European patients [7]. The mean age at diagnosis, in a paediatric case series of COREN et al [8], was 4.4 yrs (6 yrs for those without situs inversus), which was higher than that for patients suffering from CF treated in the same clinic (1.3 yrs).…”