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Hereditary interstitial lung diseases manifesting in early childhood in Japan

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Title: Hereditary interstitial lung diseases manifesting in early childhood in Japan
Authors: Akimoto, Takuma Browse this author
Cho, Kazutoshi Browse this author →KAKEN DB
Hayasaka, Itaru Browse this author
Morioka, Keita Browse this author
Kaneshi, Yosuke Browse this author
Furuta, Itsuko Browse this author →KAKEN DB
Yamada, Masafumi Browse this author
Ariga, Tadashi Browse this author →KAKEN DB
Minakami, Hisanori Browse this author →KAKEN DB
Issue Date: Nov-2014
Publisher: Nature Publishing Group
Journal Title: Pediatric research
Volume: 76
Issue: 5
Start Page: 453
End Page: 458
Publisher DOI: 10.1038/pr.2014.114
PMID: 25105258
Abstract: BACKGROUND: Genetic variations associated with interstitial lung diseases (ILD) have not been extensively studied in Japanese infants. METHODS: Forty-three infants with unexplained lung dysfunction were studied. All 43, 22, and 17 infants underwent analyses of surfactant protein (SP)-C gene (SFTPC) and ATP-binding cassette A3 gene (ABCA3), SP-B gene (SFTPB), and SP-B western blotting, respectively. Two and four underwent assessment of granulocyte macrophage colony-stimulating factor-stimulating phosphorylation of signal transducer and activator of transcription-5 (pSTAT-5) and analyses of FOXF1 gene (FOXF1), respectively. RESULTS: ILD were diagnosed clinically in nine infants: four, three, and two had interstitial pneumonitis, hereditary pulmonary alveolar proteinosis (hPAP), and alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), respectively. Genetic variations considered responsible were detected in six (67%) of the nine infants with ILD: three with hPAP (SFTPC p.Leu45Arg and p.Gln145fs, and ABCA3 p.Arg1583Trp/p.Val1495CysfsX21), two with interstitial pneumonitis (SFTPC p.Lys63Glu and p.Ser72Asn/p.Gly100Ala), and one with ACD/MPV (FOXF1 p.Leu300ArgfsX79). None showed SFTPB mutations or defects in pSTAT-5. The 17 bron-choalveolar lavage or tracheal aspirates contained enough SP-B protein. CONCLUSION: The SP-C abnormality was most prevalent, and SP-B deficiency was rare in Japanese infants with hereditary-ILD.
Type: article (author version)
Appears in Collections:北海道大学病院 (Hokkaido University Hospital) > 雑誌発表論文等 (Peer-reviewed Journal Articles, etc)

Submitter: 長 和俊

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