A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy

2016 ◽  
Vol 52 (1) ◽  
pp. 57-68 ◽  
Author(s):  
Melissa Kaori Silva Litao ◽  
Don Hayes ◽  
Saurabh Chiwane ◽  
Lawrence M. Nogee ◽  
Geoffrey Kurland ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Gene Mutation ◽  
Protein C ◽  
Surfactant Protein ◽  
Surfactant Protein C ◽  
Progressive Respiratory Failure

scholarly journals Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene

2010 ◽  
Vol 30 (2) ◽  
pp. 151-153 ◽  
Author(s):  
B S Poterjoy ◽  
Y Vibert ◽  
M Sola-Visner ◽  
J McGowan ◽  
G Visner ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Protein C ◽  
Novel Mutation ◽  
Surfactant Protein ◽  
Surfactant Protein C

scholarly journals A Nonsmoker Man in His 40s With a Diagnosis of Genetic-Related Idiopathic Pulmonary Fibrosis (Surfactant-Protein C Gene Mutation)

CHEST Journal ◽  
2019 ◽  
Vol 155 (4) ◽  
pp. e91-e96
Author(s):  
Antonin Fattori ◽  
Mickael Ohana ◽  
Sandrine Hirschi ◽  
Romain Kessler ◽  
Nicola Santelmo ◽  
...  
Keyword(s):  
Idiopathic Pulmonary Fibrosis ◽  
Pulmonary Fibrosis ◽  
Gene Mutation ◽  
Protein C ◽  
Surfactant Protein ◽  
Surfactant Protein C

scholarly journals High-flow nasal cannula for respiratory evaluation of surfactant protein C dysfunction

2020 ◽  
Author(s):  
Masao Nogami ◽  
Soichiro Wada ◽  
Shuji Sai ◽  
Taiji Nakashima ◽  
Tetuo Onda ◽  
...  
Keyword(s):  
Protein C ◽  
Surfactant Protein ◽  
High Flow ◽  
Nasal Cannula ◽  
High Flow Nasal Cannula ◽  
Respiratory Condition ◽  
Surfactant Protein C ◽  
Progressive Respiratory Failure ◽  
Stable Oxygen ◽  
Treatment Responsiveness

Surfactant protein C gene (SFTPC) variations may cause hereditary interstitial lung disease (HILD), a disease with variable prognosis. The evaluation of treatment responsiveness of HILD with SFTPC variation remains unclear. We present the case of a child with HILD whose respiratory condition was appropriately evaluated using a high-flow nasal cannula (HFNC). A 12-month-old boy with SFTPC variation developed progressive respiratory failure. Although he was once considered a candidate for lung transplantation, his respiratory condition was improved by hydroxychloroquine treatment, which prevented further therapy. Compared to a conventional nasal cannula, which could not deliver a stable oxygen concentration, HFNC allowed us to evaluate the improvement of oxygenation more accurately.

Homozygous mutation in ABCA3 Lipid-Transporter defect (EXON 9) and low level of surfactant protein C

2010 ◽  
Vol 222 (S 01) ◽  
Author(s):  
J Pöschl ◽  
P Ruef ◽  
M Griese ◽  
P Lohse ◽  
C Aslanidis ◽  
...  
Keyword(s):  
Protein C ◽  
Surfactant Protein ◽  
Homozygous Mutation ◽  
Surfactant Protein C ◽  
Low Level ◽  
Exon 9 ◽  
Lipid Transporter
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