Hereditary interstitial lung diseases manifesting in early childhood in Japan

Akimoto, Takuma; Cho, Kazutoshi; Hayasaka, Itaru et al.

Pediatric research, 2014, 76(5), 453-458

Permalink : https://hdl.handle.net/2115/59109

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アクセス権
open access
URI
https://hdl.handle.net/2115/59109
タイトル
Hereditary interstitial lung diseases manifesting in early childhood in Japan
著者
Akimoto, Takuma ; Cho, Kazutoshi ; Hayasaka, Itaru ; Morioka, Keita ; Kaneshi, Yosuke ; Furuta, Itsuko ; Yamada, Masafumi ; Ariga, Tadashi ; Minakami, Hisanori
著者名
Akimoto, Takuma
e-Rad_Researcher
10312365
著者名
Cho, Kazutoshi
著者名
Hayasaka, Itaru
著者名
Morioka, Keita
著者名
Kaneshi, Yosuke
e-Rad_Researcher
70238682
著者名
Furuta, Itsuko
著者名
Yamada, Masafumi
e-Rad_Researcher
60322806
著者名
Ariga, Tadashi
e-Rad_Researcher
40102256
著者名
Minakami, Hisanori
言語
英語
発行日
2014-11
出版者
Nature Publishing Group
収録物名
Pediatric research
巻(号)
76(5)
ページ
453-458
抄録
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.
資源タイプ
学術雑誌論文
出版タイプ
Accepted Manuscript
PISSN
0031-3998
関連情報
PMID
25105258
関連情報 (isVersionOf)
出版社版DOI
https://doi.org/10.1038/pr.2014.114