Cystic fibrosis in a Hispanic adolescent. Issue 3 (8th February 2013)

• Record Type: Journal Article
• Authors: Lin, Jenny H.; Collaco, Joseph M.; Paranjape, Shruti M.
• Is Part Of: Pediatric pulmonology. Volume 49:Issue 3(2014:Mar.)
• Page Start: E40
• Page End: E41
• Publication Date: 2013-02-08
• Subjects: Pediatric respiratory diseases -- Periodicals; Pediatrics -- Periodicals; 618.922
• DOI: 10.1002/ppul.22758
• Languages: English
• ISSNs: 8755-6863

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ppul22758-sec-0001" sec-type="section"> <p>We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which results in a premature stop codon in exon 20 of the <italic>CFTR</italic> gene. This case, highlighted by the identification of a deleterious, disease‐causing mutation, illustrates the importance of maintaining both a high clinical suspicion for CF and low threshold for obtaining genetic testing in a non‐Caucasian Hispanic adolescent with a characteristic clinical presentation. <bold>Pediatr Pulmonol. 2014; 49:E40–E41.</bold> © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>