2024-03-29T07:49:24Zhttps://eprints.lib.hokudai.ac.jp/dspace-oai/requestoai:eprints.lib.hokudai.ac.jp:2115/591092022-11-17T02:08:08Zhdl_2115_20043hdl_2115_137Hereditary interstitial lung diseases manifesting in early childhood in JapanAkimoto, TakumaCho, KazutoshiHayasaka, ItaruMorioka, KeitaKaneshi, YosukeFuruta, ItsukoYamada, MasafumiAriga, TadashiMinakami, Hisanori490BACKGROUND: 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.Nature Publishing GroupJournal Articleapplication/pdfhttp://hdl.handle.net/2115/59109https://eprints.lib.hokudai.ac.jp/dspace/bitstream/2115/59109/1/Akimoto-text-final-correct.pdf0031-3998Pediatric research7654534582014-11enginfo:pmid/25105258info:doi/10.1038/pr.2014.114author