Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2024 Feb;59(2):488-491.
doi: 10.1002/ppul.26722. Epub 2023 Dec 1.

Noninvasive management of infants with SFTPC pathogenic variants

Affiliations

Noninvasive management of infants with SFTPC pathogenic variants

Deborah R Liptzin et al. Pediatr Pulmonol. 2024 Feb.
No abstract available

Keywords: children's interstitial and diffuse lung disease; chronic lung disease; noninvasive ventilation.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Clinical courses of our two patients with SFTPC pathogenic variants
Figure 2.
Figure 2.
Chest CT imaging from two cases with SFTPC pathogenic variants. 2A: Case 1 at 2 weeks of age with diffuse ground-glass opacities. 2B: Case 1 at 2 years of age with clearing of ground-glass opacities. 2C: Case 2 at 3 months of age with diffuse ground-glass opacities.
Figure 2.
Figure 2.
Chest CT imaging from two cases with SFTPC pathogenic variants. 2A: Case 1 at 2 weeks of age with diffuse ground-glass opacities. 2B: Case 1 at 2 years of age with clearing of ground-glass opacities. 2C: Case 2 at 3 months of age with diffuse ground-glass opacities.
Figure 2.
Figure 2.
Chest CT imaging from two cases with SFTPC pathogenic variants. 2A: Case 1 at 2 weeks of age with diffuse ground-glass opacities. 2B: Case 1 at 2 years of age with clearing of ground-glass opacities. 2C: Case 2 at 3 months of age with diffuse ground-glass opacities.

References

    1. Liptzin DR, Patel T, Deterding RR. Chronic ventilation in infants with surfactant protein C mutations: an alternative to lung transplantation. Am J Respir Crit Care Med. 2015;191(11):1338–40. - PMC - PubMed
    1. Guillot L, Epaud R, Thouvenin G, Jonard L, Mohsni A, Couderc R, et al. New surfactant protein C gene mutations associated with diffuse lung disease. J Med Genet. 2009;46(7):490–4. - PubMed
    1. Genome aggregation database (gnomAD). v.3.1.2 ed.
    1. ClinVar [Available from: https://www.ncbi.nlm.nih.gov/clinvar/.
    1. Kircher M, Witten DM, Jain P, O’Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nat Genet. 2014;46(3):310–5. - PMC - PubMed

Substances

LinkOut - more resources