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International consensus statement on routine blood testing in primary ciliary dyskinesia.

Sarah Altaraihi1, June K Marthin1, Pinelopi Anagnostopoulou2,3

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Summary

This study establishes the first international consensus on routine blood tests for primary ciliary dyskinesia (PCD). It identifies key blood markers for monitoring PCD patients at diagnosis, annually, and during exacerbations.

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Area of Science:

  • Pulmonology
  • Genetics
  • Clinical Diagnostics

Background:

  • Primary ciliary dyskinesia (PCD) is a rare genetic disorder causing motile cilia dysfunction.
  • PCD leads to chronic airway infections, lung function decline, atelectasis, and bronchiectasis.
  • Current guidelines for routine blood testing in PCD are lacking.

Purpose of the Study:

  • To develop an international expert consensus statement on routine blood tests for PCD patients.
  • To guide disease monitoring and management through standardized blood testing protocols.

Main Methods:

  • An international panel of 33 PCD experts from 17 countries was convened.
  • A modified Delphi technique with three e-survey rounds was employed to reach consensus.
  • Consensus was defined as ≥80% agreement, with patient representatives included.

Main Results:

  • Consensus was reached on 51 out of 101 statements (50%) regarding routine blood testing in PCD.
  • Recommendations cover tests for inflammation, iron status, vitamin D, immune function, and organ function.
  • Specific guidance is provided for tests at diagnosis, annually, and during exacerbations.

Conclusions:

  • This marks the first international consensus on routine blood testing for primary ciliary dyskinesia.
  • The consensus provides a framework for relevant blood tests in PCD management.
  • Further research is necessary to validate the clinical utility of these routine tests.