Ciliary beat pattern analysis below 37°C may risk PCD misdiagnosis
Ciliary beat pattern analysis below 37°C may risk PCD misdiagnosis
Primary Ciliary Dyskinesia (PCD) is a rare inherited multi-genic disorder of mucociliary function. Patients with indicative clinical profiles referred to the UK specialist PCD service receive a diagnosis based on multiple factors. These include high-speed video microscopy (HSVM) analysis of ciliary beat pattern (CBP) and ciliary beat frequency (CBF) at 37°C (for in vivo modelling). In PCD, ciliary axonemal defects generate abnormal CBP with/without abnormal CBF. Corresponding and predominant ultrastructural defects are determined by TEM, except in atypical cases. We report an atypical PCD patient (8 months old) with respiratory and nasal symptoms since birth, situs inversus and serous otitis media. HSVM confirmed abnormal and hyperfrequent ciliary function at 37°C on four occasions, but normal ciliary ultrastructure. On two occasions CBP and CBF (mean ±SD) were assessed at 37oC and room temperature (21-24°C). At 37°C CBF was hyperfrequent (34.4 Hz ±13.5 n=11; 26.3 Hz ±3.4 n=6) and CBP consistently abnormal with interrupted, short range, dyskinetic motility. However at room temperature the same cilia reverted to CBF (15.2 Hz ±4.5 n=2; 12.6 Hz ±0.8 n=6) within our normal range (11-20 Hz) with improved ciliary coordination and range of movement, suggesting a PCD variant with temperature sensitive CBP. Recent research suggests that healthy human epithelium maintains a normal CBP at temperatures as low as 2°C, and low temperature ciliary analysis may diagnostically replace HSVM. However, in light of our case study we conclude that temperature sensitive variants of PCD may exist and CBP analysis below 37°C without HSVM may risk PCD misdiagnosis.
Jackson, Claire
64cdd6fa-74c3-4ac6-94ef-070620a6efd9
Goggin, P.M.
7cf53c28-7b1c-4737-b500-5746f71e0254
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
16 November 2012
Jackson, Claire
64cdd6fa-74c3-4ac6-94ef-070620a6efd9
Goggin, P.M.
7cf53c28-7b1c-4737-b500-5746f71e0254
Lucas, Jane
5cb3546c-87b2-4e59-af48-402076e25313
Jackson, Claire, Goggin, P.M. and Lucas, Jane
(2012)
Ciliary beat pattern analysis below 37°C may risk PCD misdiagnosis.
Cilia, 1 (Suppl 1).
(doi:10.1186/2046-2530-1-S1-P26).
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Meeting abstract
Abstract
Primary Ciliary Dyskinesia (PCD) is a rare inherited multi-genic disorder of mucociliary function. Patients with indicative clinical profiles referred to the UK specialist PCD service receive a diagnosis based on multiple factors. These include high-speed video microscopy (HSVM) analysis of ciliary beat pattern (CBP) and ciliary beat frequency (CBF) at 37°C (for in vivo modelling). In PCD, ciliary axonemal defects generate abnormal CBP with/without abnormal CBF. Corresponding and predominant ultrastructural defects are determined by TEM, except in atypical cases. We report an atypical PCD patient (8 months old) with respiratory and nasal symptoms since birth, situs inversus and serous otitis media. HSVM confirmed abnormal and hyperfrequent ciliary function at 37°C on four occasions, but normal ciliary ultrastructure. On two occasions CBP and CBF (mean ±SD) were assessed at 37oC and room temperature (21-24°C). At 37°C CBF was hyperfrequent (34.4 Hz ±13.5 n=11; 26.3 Hz ±3.4 n=6) and CBP consistently abnormal with interrupted, short range, dyskinetic motility. However at room temperature the same cilia reverted to CBF (15.2 Hz ±4.5 n=2; 12.6 Hz ±0.8 n=6) within our normal range (11-20 Hz) with improved ciliary coordination and range of movement, suggesting a PCD variant with temperature sensitive CBP. Recent research suggests that healthy human epithelium maintains a normal CBP at temperatures as low as 2°C, and low temperature ciliary analysis may diagnostically replace HSVM. However, in light of our case study we conclude that temperature sensitive variants of PCD may exist and CBP analysis below 37°C without HSVM may risk PCD misdiagnosis.
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Published date: 16 November 2012
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Local EPrints ID: 470017
URI: http://eprints.soton.ac.uk/id/eprint/470017
ISSN: 2046-2530
PURE UUID: fff0b733-4167-4aa0-8880-caefdd653a2c
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Date deposited: 30 Sep 2022 16:38
Last modified: 17 Mar 2024 03:02
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Author:
Claire Jackson
Author:
P.M. Goggin
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