Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation
T Salerno, D Peca, L Menchini, A Schiavino… - Italian journal of …, 2016 - Springer
Italian journal of pediatrics, 2016•Springer
Background 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. Case presentation 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. Conclusions The disease
mechanisms associated with SP-C mutations suggest that the combination of individual …
with Interstitial Lung Disease in children. I73T is the most common mutation, accounting for
30% of all cases reported. Case presentation 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. Conclusions The disease
mechanisms associated with SP-C mutations suggest that the combination of individual …
Background
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.
Case presentation
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.
Conclusions
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.
Springer
