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Primary ciliary dyskinesia: age at diagnosis and symptom history

M E Coren1, M Meeks, I Morrison

  • 1Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.

Acta Paediatrica (Oslo, Norway : 1992)
|August 7, 2002
PubMed

Insights

Diagnosis of primary ciliary dyskinesia (PCD) is often delayed in children, even with early symptoms like neonatal respiratory distress and situs inversus. Early recognition of key features is crucial for timely diagnosis and management of PCD.

Area of Science:

  • Pediatric Pulmonology
  • Genetics
  • Rare Diseases

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function.
  • Symptoms often manifest early in life, but diagnosis can be challenging.

Purpose of the Study:

  • To describe the age at diagnosis and symptom history in children with PCD.
  • To highlight key clinical features that warrant early referral for PCD testing.

Main Methods:

  • Retrospective review of case notes from a pediatric PCD clinic.
  • Analysis of symptom history and age at diagnosis in 55 children with PCD.

Main Results:

  • The mean age at diagnosis was 4.4 years.
  • A significant proportion of children presented with neonatal respiratory distress (37/55), situs inversus (38/55), and early-onset rhinitis (42/55).

Conclusions:

  • Diagnosis of PCD is frequently delayed despite characteristic early-life symptoms.
  • Combinations of neonatal respiratory distress, early rhinitis, situs inversus, and productive cough strongly indicate the need for prompt PCD-specific testing.
Abstract

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