Survival of an infant with homozygous surfactant protein C (SFTPC) mutation. Issue 3 (17th December 2013)

• Record Type: Journal Article
• Authors: Arıkan‐Ayyıldız, Zeynep; Caglayan‐Sozmen, Sule; Isık, Sakine; Deterding, Robin; Dishop, Megan K.; Couderc, Remy; Epaud, Ralph; Louha, Malek; Uzuner, Nevin
• Is Part Of: Pediatric pulmonology. Volume 49:Issue 3(2014:Mar.)
• Page Start: E112
• Page End: E115
• Publication Date: 2013-12-17
• Subjects: Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.22976
• Languages: English
• ISSNs: 8755-6863

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Summary</title> <sec id="ppul22976-sec-0001" sec-type="section"> <p>Lung diseases caused by surfactant protein C (<italic>SFTPC</italic>) mutations are inherited as autosomal traits with variable penetrance and severity or as sporadic disease caused by a de novo mutation on one allele. Here, we report the case of a child surviving with a homozygous surfactant protein C mutation after aggressive clinical management unlike his six siblings who died in infancy. This presentation raises the suspicion of an autosomal recessive inheritence that is discussed in this report. <bold>Pediatr Pulmonol. 2014; 49:E112–E115.</bold> © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>