Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns

Jun Yasuhara, Yuji Yamada, Kaori Hara, Rieko Suhara, Yujiro Hattori, Tetsuji Yamaguchi, Yusuke Mizuno, Rika Kizu, Masahiro Bamba

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Primary ciliary dyskinesia (PCD) is a genetic disease that causes abnormalities in ciliary structure and/or function. Ciliated cells line the upper and lower respiratory tracts and the Eustachian tube. Impairment of mucus clearance at these sites leads to sinusitis, repeated pulmonary infections, bronchiectasis, and chronic otitis media. Situs inversus occurs randomly in approximately 50% of subjects with PCD. The triad of situs inversus, bronchiectasis and sinusitis is known as Kartagener syndrome. PCD is usually an autosomal recessive disease, but occasional instances of X-linked transmission have been reported. Specific diagnosis requires examination of ciliary function or structure on light and electron microscopy. Early diagnosis and respiratory management are important in order to prevent the development of bronchiectasis and deterioration in lung function. We report early diagnosis of PCD on nasal mucosal biopsy in two newborns who presented with prolonged respiratory distress and rhinorrhea.

Original languageEnglish
Pages (from-to)258-285
Number of pages28
JournalPediatrics International
Volume56
Issue number2
DOIs
Publication statusPublished - 2014
Externally publishedYes

Fingerprint

Kartagener Syndrome
Nose
Bronchiectasis
Biopsy
Situs Inversus
Sinusitis
Early Diagnosis
Eustachian Tube
Lung
Inborn Genetic Diseases
Otitis Media
Mucus
Respiratory System
Electron Microscopy
Light
Cell Line
Infection

Keywords

  • immotile cilia syndrome
  • Kartagener syndrome
  • primary ciliary dyskinesia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Yasuhara, J., Yamada, Y., Hara, K., Suhara, R., Hattori, Y., Yamaguchi, T., ... Bamba, M. (2014). Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns. Pediatrics International, 56(2), 258-285. https://doi.org/10.1111/ped.12268

Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns. / Yasuhara, Jun; Yamada, Yuji; Hara, Kaori; Suhara, Rieko; Hattori, Yujiro; Yamaguchi, Tetsuji; Mizuno, Yusuke; Kizu, Rika; Bamba, Masahiro.

In: Pediatrics International, Vol. 56, No. 2, 2014, p. 258-285.

Research output: Contribution to journalArticle

Yasuhara, J, Yamada, Y, Hara, K, Suhara, R, Hattori, Y, Yamaguchi, T, Mizuno, Y, Kizu, R & Bamba, M 2014, 'Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns', Pediatrics International, vol. 56, no. 2, pp. 258-285. https://doi.org/10.1111/ped.12268
Yasuhara J, Yamada Y, Hara K, Suhara R, Hattori Y, Yamaguchi T et al. Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns. Pediatrics International. 2014;56(2):258-285. https://doi.org/10.1111/ped.12268
Yasuhara, Jun ; Yamada, Yuji ; Hara, Kaori ; Suhara, Rieko ; Hattori, Yujiro ; Yamaguchi, Tetsuji ; Mizuno, Yusuke ; Kizu, Rika ; Bamba, Masahiro. / Primary ciliary dyskinesia diagnosed on nasal mucosal biopsy in two newborns. In: Pediatrics International. 2014 ; Vol. 56, No. 2. pp. 258-285.
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