Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation.
(2016) Italian journal of pediatrics — Vol. 42, p. 23 [1-4] (2016)
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- Authors
- Abstract
- Monoallelic mutations of the Surfactant Protein C gene (SFTPC) are associated with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for 30 % of all cases reported. We describe three patients carrying the same I73T SPC mutation with very different phenotypes, clinical course (ranging from mild respiratory symptoms to death for respiratory failure) and outcome. The disease mechanisms associated with SP-C mutations suggest that the combination of individual genetic background and environmental factors contribute largely to the wide variability of clinical expression. Infants, children and adults with ILD of unknown etiology should be investigated for SP-C genetic abnormalities.
- Affiliations
University of California, San Francisco Department of Pediatrics
Citations
Salerno, T., Peca, D., Menchini, L., Schiavino, A., Boldrini, R., Esposito, F., Danhaive, O., & Cutrera, R. (2016). Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation. Italian journal of pediatrics, 42, 23 [1-4]. https://doi.org/10.1186/s13052-016-0235-x (Original work published 2016)