Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder

Honjo, Ryota; Cho, Kazutoshi; Hashimoto, Kahoko; Takeda, Kenta; Seto, Yoshitaka; Kaneshi, Yosuke; Furuse, Yuta; Manabe, Atsushi

Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder

Honjo, Ryota; Cho, Kazutoshi; Hashimoto, Kahoko et al.

Early human development, 2024, 189, 105930

Permalink : https://hdl.handle.net/2115/94661

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アクセス権	open access
URI	https://hdl.handle.net/2115/94661
タイトル	Neonatal-onset pulmonary alveolar proteinosis is a phenotype associated with poor outcomes in surfactant protein-C disorder
著者	Honjo, Ryota ; Cho, Kazutoshi ; Hashimoto, Kahoko ; Takeda, Kenta ; Seto, Yoshitaka ; Kaneshi, Yosuke ; Furuse, Yuta ; Manabe, Atsushi
著者名 Honjo, Ryota
e-Rad_Researcher 10312365 著者名 Cho, Kazutoshi
著者名 Hashimoto, Kahoko
著者名 Takeda, Kenta
著者名 Seto, Yoshitaka
著者名 Kaneshi, Yosuke
著者名 Furuse, Yuta
e-Rad_Researcher 20292849 著者名 Manabe, Atsushi
言語	英語
キーワード	SFTPC
	Surfactant protein-C
	Infant
	Outcome
	Pulmonary alveolar proteinosis
	Interstitial pneumonitis
発行日	2024-02-02
出版者	Elsevier
収録物名	Early human development
巻(号)	189
ページ	105930
抄録	Background Surfactant protein C (SP-C) disorder is a major component of hereditary interstitial lung disease (HILD) among Japanese. The correlation between clinical outcomes and the phenotype/genotype of SP-C disorder has not been evaluated comprehensively. The current study aimed to evaluate the phenotype/genotype correlated with poor outcomes in patients with SP-C disorder. Methods Sequencing analysis of SFTPC in 291 candidates with HILD was performed. The phenotype and genotype correlated with poor outcomes were examined. The log-rank test was used to compare the probability of good outcomes between two patient groups. Results Twenty patients were diagnosed with SP-C disorder. Of nine patients with neonatal-onset disease, four and five presented with pulmonary alveolar proteinosis (PAP) and interstitial pneumonitis (IP), respectively. The remaining 11 patients with late-onset disease had IP. In total, four and 16 patients had PAP and IP phenotypes, respectively. Four of nine patients with neonatal-onset disease died, and one survived after lung transplant. Further, 1 of 11 patients with late-onset disease died. Four patients with neonatal-onset PAP had a significantly lower probability of good outcomes than the remaining patients. Two patients with neonatal-onset PAP had the p.Leu45Arg variant, one died and the another survived after lung transplant. Of eight patients with variants in the BRICHOS domain, one with frame shift variant located in exon 4, one with variant located at the splicing acceptor site of exon 4, and one with variant located at the splicing donor site of exon 4 died. Conclusion Neonatal-onset PAP was a phenotype predicting poor outcomes in patients with SP-C disorder. The p.Leu45Arg variant and splicing disorder of exon 4 might be genotypes predicting poor outcomes in patients with SP-C disorder.
資源タイプ	学術雑誌論文
出版タイプ	Accepted Manuscript
権利情報	Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
権利情報	© 2024. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
PISSN	0378-3782
関連情報 (isVersionOf)	出版社版DOI https://doi.org/10.1016/j.earlhumdev.2023.105930