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
Hauptverfasser: Yonker, Lael M, Hawley, Megan, Kinane, Thomas Bernard
Format: Artikel
Sprache:eng
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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.
ISSN:2574-2272
2096-3726
2574-2272
DOI:10.1002/ped4.12170