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Case Report

Open Access

Lethal respiratory failure due to a surfactant protein C gene mutation

  • SR􀀁AN BANAC1
  • SANDRO DESSARDO2
  • KRISTINA LAH-TOMULIĆ1
  • NEVEN FRLETA 1
  • NADA SINDIČIĆ-DESSARDO2
  • GIORDANO ŠAINA3
  • KSENIJA LUČIN 4

1,Department of Pediatrics Clinical Hospital Center Rijeka

2,Department of Neonatology Clinical Hospital Center Rijeka

3,Department of Paediatric Radiology Clinical Hospital Center Rijeka

4Department of Pathology School of Medicine, University of Rijeka

DOI: 10.22514/SV72.102012.8 Vol.7,Issue 2,October 2012 pp.47-49

Published: 29 October 2012

*Corresponding Author(s): SR􀀁AN BANAC E-mail: srdjan.banac@medri.hr

Abstract

A case of a full-term male infant with recurrent episodes of „obstructive bronchitis” and „bilateral pneumonias”, refractory to conventional asthma therapy, is reported. When referred to the paediatric clinic at the age of 15 months, his clinical pre-sentation was of acute respiratory distress syndrome with severe hypoxemia, which was easily corrected by the inhalation of oxygen. A series of further investigations, including lung biopsy, suggested the diagnosis of childhood interstitial lung disease (ILD). Due to progressive respiratory failure, the boy died after 3 months of mechanical ventilator support, at the age of 19 months. Subsequently performed genetic studies revealed that he was heterozygous for the I73T mutation of the surfactant protein C precursor protein. Thus, suspicion of childhood ILD due to genetic mutations that influence surfactant metabolism should be raised in children who present with unexplained respiratory distress or chronic respiratory symptoms. Less invasive testing, such as surfactant protein genetics, may be diagnostic in such cases.

Keywords

child, interstitial lung disease, respiratory distress, surfac-tant deficiency, surfactant protein C

Cite and Share

SR􀀁AN BANAC,SANDRO DESSARDO,KRISTINA LAH-TOMULIĆ,NEVEN FRLETA ,NADA SINDIČIĆ-DESSARDO,GIORDANO ŠAINA,KSENIJA LUČIN . Lethal respiratory failure due to a surfactant protein C gene mutation. Signa Vitae. 2012. 7(2);47-49.

References

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