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Never too old for an inherited condition

Philip Robinson1,2

  • 1Department of Respiratory and Sleep Medicine, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

Internal Medicine Journal
|October 6, 2018
PubMed

Insights

Primary ciliary dyskinesia (PCD) is a rare inherited disorder causing progressive lung disease. Delayed diagnosis in adults highlights the need for increased medical awareness and access to specialized testing for effective treatment.

Area of Science:

  • Medical Science
  • Genetics
  • Pulmonology

Background:

  • Primary ciliary dyskinesia (PCD) is an inherited disorder affecting cilia function.
  • It leads to progressive suppurative airway disease, chronic rhinosinusitis, hearing loss, and reduced fertility.

Observation:

  • Diagnosis of PCD is often delayed due to low medical awareness and limited access to diagnostic centers in Australia.
  • This report presents two adult cases with long-standing medical interactions but a late diagnosis of PCD.
  • The condition was either overlooked or dismissed during previous medical consultations.

Findings:

  • Late diagnosis of primary ciliary dyskinesia can occur even in patients with extensive medical history.
  • Lack of awareness and diagnostic accessibility contribute significantly to diagnostic delays.

Implications:

  • Increased awareness of PCD among healthcare professionals is crucial for timely diagnosis.
  • Early diagnosis facilitates the cessation of ineffective treatments and the initiation of targeted therapies.
  • Improved access to specialized diagnostic services is essential for managing PCD effectively.

Keywords:
bronchiectasisdelayed diagnosisprimary ciliary dyskinesia

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