New insights into pulmonary hemorrhage
In this issue of Pediatric Investigation, Tang et al describe a cohort of pediatric patients with interstitial lung disease associated with heterozygous SFTPC mutations, with the goal of highlighting disease manifestations and clinical outcomes related to surfactant protein C (SP‐C) deficiency. SFTP...
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Veröffentlicht in: | Pediatric investigation 2019-12, Vol.3 (4), p.207-208 |
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Hauptverfasser: | , , |
Format: | Artikel |
Sprache: | eng |
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Online-Zugang: | Volltext |
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Zusammenfassung: | In this issue of Pediatric Investigation, Tang et al describe a cohort of pediatric patients with interstitial lung disease associated with heterozygous SFTPC mutations, with the goal of highlighting disease manifestations and clinical outcomes related to surfactant protein C (SP‐C) deficiency. SFTPC‐associated surfactant deficiency is an autosomal dominant monogenic cause of interstitial lung disease, causing a range of pulmonary symptoms. SFTPC mutations that lead to ER stress can cause pulmonary interstitial lung disease and have now been associated with pulmonary hemorrhage. |
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ISSN: | 2574-2272 2096-3726 2574-2272 |
DOI: | 10.1002/ped4.12170 |