Primary ciliary dyskinesia diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Hafsa Ghaffar, M.B.B.S[2]

Overview

A high level of suspicion is required to warrant early diagnosis and initiation of appropriate management before irreversible lung damage ensues. Diagnostic investigations are complex, requiring expensive arrangements and an experienced team of clinicians and scientists. People with persistent respiratory symptoms such as rhinitis, rhino-sinusitis, infertility, recurrent otitis media should seek medical care and undergo further testing. Nasal nitric oxide levels are low in PCD and should be performed as a screening test. Transmission electron microscopy to assess the ultrastructure of cilia is another important investigation that can confirm the diagnosis.

Diagnostic Study of Choice

Study of choice

There is no single diagnostic test for primary ciliary dyskinesia. A combination of the following techniques could contribute to the diagnosis of Primary ciliary dyskinesia.[1]

Sequence of Diagnostic Studies

Electron microscopy should be performed when standard microscopy fails to establish the diagnosis. Repeat testing is often required as most tests are inconclusive.

Name of Diagnostic Criteria

Candidates presenting with any of the following should be tested to rule out PCD,

References

  1. Lucas JS, Burgess A, Mitchison HM, Moya E, Williamson M, Hogg C; et al. (2014). "Diagnosis and management of primary ciliary dyskinesia". Arch Dis Child. 99 (9): 850–6. doi:10.1136/archdischild-2013-304831. PMC 4145427. PMID 24771309.
  2. "Primary Ciliary Dyskinesia Workup: Laboratory Studies, Imaging Studies, Other Tests".

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