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Open Access 01-12-2016 | Case report

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation

Authors: Teresa Salerno, Donatella Peca, Laura Menchini, Alessandra Schiavino, Renata Boldrini, Fulvio Esposito, Olivier Danhaive, Renato Cutrera

Published in: Italian Journal of Pediatrics | Issue 1/2016

Abstract

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.

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Title: Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation
Authors: Teresa Salerno
Donatella Peca
Laura Menchini
Alessandra Schiavino
Renata Boldrini
Fulvio Esposito
Olivier Danhaive
Renato Cutrera
Publication date: 01-12-2016
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2016
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/s13052-016-0235-x

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Surfactant Protein C-associated interstitial lung disease; three different phenotypes of the same SFTPC mutation

Abstract

Background

Case presentation

Conclusions

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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