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Diagnosis and Management
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Frustrated by the lack of reliable information on diagnosing and managing the clinical issue that affect your PCD population? So are we and we are actively engaged in efforts to develop standards for the diagnosis, treatment and management of PCD! To date there have been significant obstacles to accomplishing these goals, chief among them having a very small ‘confirmed’ patient group that is geographically dispersed making clinical trials nearly impossible. However, phenomenal advances in gene discovery and our evolving understanding of PCD in the past decade demonstrate that we can confidently overcome these challenges by expanding our efforts at patient identification and organization (see the ‘Path to Clinical Trials’ program) and rapidly accelerate a PCD research agenda.

Because of the rapid evolution in PCD knowledge, efforts to define diagnostic and management standards are necessarily a work in progress, so please view the following information from that perspective.

Diagnosis

One of the primary challenges faced by families and care providers is simply getting diagnosed. The current gold standard for PCD diagnosis is a biopsy of ciliary ultrastructure by transmission electron microscopy (TEM) analysis. While TEM has been and continues to be a powerful tool in PCD diagnostics, there can be serious limitations to its effectiveness based on a number of factors outside of the ordering physician’s control (More complete discussion of diagnostic dilemas)

It is increasing clear that PCD diagnosis will require a multi-pronged approach that includes genetic testing, biopsy and additional adjunct testing (nasal nitric oxide, videomicroscopy, etc) as needed. Tremendous progress has been made in identifying PCD genetic mutations and we look forward to and support work aimed at accelerating gene discovery and developing a comprehensive genetic test for PCD. In the meantime, here are some resources for PCD diagnosis:

Management

Managing individuals with PCD can be challenging. The disorder presents with a wide spectrum of severity, clinical signs and symptoms may be poorly correlated to one another or even contradictory and periods of frequent, unrelenting infections are often followed by long periods of apparent good health. Anecdotally, families notice that the early years are particularly difficult, but symptoms become more manageable towards adolescence and early adulthood. Sadly, this period of relatively good health (which we call the ‘Cinderella period’) often contributes to a false sense of complacency in both affected individuals and physicians and disguises the reality that PCD lung disease is progressive. As affected individuals approach the third and fourth decade of life, bronchiectasis often becomes more severe, the number and nature of infections becomes significantly more severe and many adults with PCD are disabled with respiratory disease by their third, fourth or fifth decade of life. Many progress to respiratory failure and the need for transplant.

Because as a patient organization we are privileged to see the ‘big picture,’ it is especially frustrating to us when we hear physicians say PCD is associated with a ‘normal life expectancy.’ First, this is not actually true and second, ‘normal’ is a relative term. Even if some people with PCD live a normal life quantitatively, their experience of diminished quality of life and disability is far from ‘normal.’

Ultimately it is our goal to have standards of care for the management of both pediatric and adult individuals with PCD. We are working with our research partners and through our Path to Clinical Trials program to establish clinical centers and initiate the sort of data collection that will support the development of these standards. In the meantime, we encourage individuals with PCD to be followed at certified cystic fibrosis centers by physicians familiar with bronchiectatic lung disease who employ a ‘care team’ approach to management.

Resources

An excellent review of PCD diagnosis and management can be found here:

Leigh MW, Pittman JE, Carson JL, Ferkol TW, Dell SD, Davis SD, Knowles MR, Zariwala MA. Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. Genet Med. 2009 Jul;11(7):473-87.

The European Respiratory Society PCD Taskforce (pediatric) Consensus Statement can be found here:

Barbato A, Frischer T, Kuehni CE, Snijders D, Azevedo I, Baktai G, Bartoloni L, Eber E, Escribano A, Haarman E, Hesselmar B, Hogg C, Jorissen M, Lucas J, Nielsen KG, O'Callaghan C, Omran H, Pohunek P, Strippoli MP, Bush A. Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. Eur Respir J. 2009 Dec;34(6):1264-76.

Additional Resources: