Additional role of bronchial mucosal biopsy for ciliary structural abnormality in diagnosis of primary ciliary dyskinesia

Hyun Il Gil, Taebum Lee, Byeong Ho Jeong, Hyun Lee, Junsu Choe, Kangmo Ahn, Sang Duk Hong, Kyeongman Jeon, Won Jung Koh, Jung Sun Kim, Hye Yun Park

Research output: Contribution to journalArticleResearchpeer-review

Abstract

Background: Transmission electron microscopy (TEM) is one of diagnostic tests for primary ciliary dyskinesia (PCD). The mucosal samples obtained for cilia examination are generally procured from the nasal turbinate, but these specimens often yield inadequate results. The bronchial mucosa is recognized as an alternative sample, but no study has examined the additional utility of bronchial mucosa compared with nasal mucosa in the diagnosis of PCD. Methods: The medical records of 96 patients who underwent TEM for suspected PCD between April 1997 and June 2017 were reviewed. Patients were divided into three groups based on the site of mucosal biopsy: nasal biopsy (NB) group with nasal mucosal biopsy only; bronchial biopsy (BB) group with bronchial mucosal biopsy only; and nasal and bronchial biopsy (NBB) group with a combination of nasal and bronchial mucosal biopsies. Results: The rate of PCD diagnosis was 28.8% (17/59) in the NB group, 41.2% (7/17) in the BB group, and 60.0% (12/20) in the NBB group. The yield of PCD diagnosis significantly increased in the NBB group compared with the NB group (P=0.012). In the NBB group, 25.0% (5/20) of patients were diagnosed with PCD by nasal mucosal biopsy, and 35.0% (7/20) of patients were additionally diagnosed by bronchial mucosal biopsy. The presence of sinusitis or bronchiectasis was not associated with prediction of PCD diagnosis from nasal or bronchial mucosal biopsy. Conclusions: The combination of nasal and bronchial mucosal biopsy for TEM showed higher yields of PCD diagnosis than nasal mucosal biopsy alone.

Original languageEnglish
Pages (from-to)839-847
Number of pages9
JournalJournal of Thoracic Disease
Volume11
Issue number3
DOIs
StatePublished - 2019 Jan 1

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Kartagener Syndrome
Nose
Biopsy
Transmission Electron Microscopy
Mucous Membrane

Keywords

  • Biopsy
  • Bronchiectasis
  • Diagnosis
  • Kartagener syndrome
  • Microscopy

Cite this

Gil, Hyun Il ; Lee, Taebum ; Jeong, Byeong Ho ; Lee, Hyun ; Choe, Junsu ; Ahn, Kangmo ; Hong, Sang Duk ; Jeon, Kyeongman ; Koh, Won Jung ; Kim, Jung Sun ; Park, Hye Yun. / Additional role of bronchial mucosal biopsy for ciliary structural abnormality in diagnosis of primary ciliary dyskinesia. In: Journal of Thoracic Disease. 2019 ; Vol. 11, No. 3. pp. 839-847.
@article{63f72e92355145bfa3f34e81abc5079b,
title = "Additional role of bronchial mucosal biopsy for ciliary structural abnormality in diagnosis of primary ciliary dyskinesia",
abstract = "Background: Transmission electron microscopy (TEM) is one of diagnostic tests for primary ciliary dyskinesia (PCD). The mucosal samples obtained for cilia examination are generally procured from the nasal turbinate, but these specimens often yield inadequate results. The bronchial mucosa is recognized as an alternative sample, but no study has examined the additional utility of bronchial mucosa compared with nasal mucosa in the diagnosis of PCD. Methods: The medical records of 96 patients who underwent TEM for suspected PCD between April 1997 and June 2017 were reviewed. Patients were divided into three groups based on the site of mucosal biopsy: nasal biopsy (NB) group with nasal mucosal biopsy only; bronchial biopsy (BB) group with bronchial mucosal biopsy only; and nasal and bronchial biopsy (NBB) group with a combination of nasal and bronchial mucosal biopsies. Results: The rate of PCD diagnosis was 28.8{\%} (17/59) in the NB group, 41.2{\%} (7/17) in the BB group, and 60.0{\%} (12/20) in the NBB group. The yield of PCD diagnosis significantly increased in the NBB group compared with the NB group (P=0.012). In the NBB group, 25.0{\%} (5/20) of patients were diagnosed with PCD by nasal mucosal biopsy, and 35.0{\%} (7/20) of patients were additionally diagnosed by bronchial mucosal biopsy. The presence of sinusitis or bronchiectasis was not associated with prediction of PCD diagnosis from nasal or bronchial mucosal biopsy. Conclusions: The combination of nasal and bronchial mucosal biopsy for TEM showed higher yields of PCD diagnosis than nasal mucosal biopsy alone.",
keywords = "Biopsy, Bronchiectasis, Diagnosis, Kartagener syndrome, Microscopy",
author = "Gil, {Hyun Il} and Taebum Lee and Jeong, {Byeong Ho} and Hyun Lee and Junsu Choe and Kangmo Ahn and Hong, {Sang Duk} and Kyeongman Jeon and Koh, {Won Jung} and Kim, {Jung Sun} and Park, {Hye Yun}",
year = "2019",
month = "1",
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doi = "10.21037/jtd.2019.02.24",
language = "English",
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Gil, HI, Lee, T, Jeong, BH, Lee, H, Choe, J, Ahn, K, Hong, SD, Jeon, K, Koh, WJ, Kim, JS & Park, HY 2019, 'Additional role of bronchial mucosal biopsy for ciliary structural abnormality in diagnosis of primary ciliary dyskinesia', Journal of Thoracic Disease, vol. 11, no. 3, pp. 839-847. https://doi.org/10.21037/jtd.2019.02.24

Additional role of bronchial mucosal biopsy for ciliary structural abnormality in diagnosis of primary ciliary dyskinesia. / Gil, Hyun Il; Lee, Taebum; Jeong, Byeong Ho; Lee, Hyun; Choe, Junsu; Ahn, Kangmo; Hong, Sang Duk; Jeon, Kyeongman; Koh, Won Jung; Kim, Jung Sun; Park, Hye Yun.

In: Journal of Thoracic Disease, Vol. 11, No. 3, 01.01.2019, p. 839-847.

Research output: Contribution to journalArticleResearchpeer-review

TY - JOUR

T1 - Additional role of bronchial mucosal biopsy for ciliary structural abnormality in diagnosis of primary ciliary dyskinesia

AU - Gil, Hyun Il

AU - Lee, Taebum

AU - Jeong, Byeong Ho

AU - Lee, Hyun

AU - Choe, Junsu

AU - Ahn, Kangmo

AU - Hong, Sang Duk

AU - Jeon, Kyeongman

AU - Koh, Won Jung

AU - Kim, Jung Sun

AU - Park, Hye Yun

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Background: Transmission electron microscopy (TEM) is one of diagnostic tests for primary ciliary dyskinesia (PCD). The mucosal samples obtained for cilia examination are generally procured from the nasal turbinate, but these specimens often yield inadequate results. The bronchial mucosa is recognized as an alternative sample, but no study has examined the additional utility of bronchial mucosa compared with nasal mucosa in the diagnosis of PCD. Methods: The medical records of 96 patients who underwent TEM for suspected PCD between April 1997 and June 2017 were reviewed. Patients were divided into three groups based on the site of mucosal biopsy: nasal biopsy (NB) group with nasal mucosal biopsy only; bronchial biopsy (BB) group with bronchial mucosal biopsy only; and nasal and bronchial biopsy (NBB) group with a combination of nasal and bronchial mucosal biopsies. Results: The rate of PCD diagnosis was 28.8% (17/59) in the NB group, 41.2% (7/17) in the BB group, and 60.0% (12/20) in the NBB group. The yield of PCD diagnosis significantly increased in the NBB group compared with the NB group (P=0.012). In the NBB group, 25.0% (5/20) of patients were diagnosed with PCD by nasal mucosal biopsy, and 35.0% (7/20) of patients were additionally diagnosed by bronchial mucosal biopsy. The presence of sinusitis or bronchiectasis was not associated with prediction of PCD diagnosis from nasal or bronchial mucosal biopsy. Conclusions: The combination of nasal and bronchial mucosal biopsy for TEM showed higher yields of PCD diagnosis than nasal mucosal biopsy alone.

AB - Background: Transmission electron microscopy (TEM) is one of diagnostic tests for primary ciliary dyskinesia (PCD). The mucosal samples obtained for cilia examination are generally procured from the nasal turbinate, but these specimens often yield inadequate results. The bronchial mucosa is recognized as an alternative sample, but no study has examined the additional utility of bronchial mucosa compared with nasal mucosa in the diagnosis of PCD. Methods: The medical records of 96 patients who underwent TEM for suspected PCD between April 1997 and June 2017 were reviewed. Patients were divided into three groups based on the site of mucosal biopsy: nasal biopsy (NB) group with nasal mucosal biopsy only; bronchial biopsy (BB) group with bronchial mucosal biopsy only; and nasal and bronchial biopsy (NBB) group with a combination of nasal and bronchial mucosal biopsies. Results: The rate of PCD diagnosis was 28.8% (17/59) in the NB group, 41.2% (7/17) in the BB group, and 60.0% (12/20) in the NBB group. The yield of PCD diagnosis significantly increased in the NBB group compared with the NB group (P=0.012). In the NBB group, 25.0% (5/20) of patients were diagnosed with PCD by nasal mucosal biopsy, and 35.0% (7/20) of patients were additionally diagnosed by bronchial mucosal biopsy. The presence of sinusitis or bronchiectasis was not associated with prediction of PCD diagnosis from nasal or bronchial mucosal biopsy. Conclusions: The combination of nasal and bronchial mucosal biopsy for TEM showed higher yields of PCD diagnosis than nasal mucosal biopsy alone.

KW - Biopsy

KW - Bronchiectasis

KW - Diagnosis

KW - Kartagener syndrome

KW - Microscopy

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U2 - 10.21037/jtd.2019.02.24

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SN - 2072-1439

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