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Case Reports
. 2014 Mar;49(3):E40-1.
doi: 10.1002/ppul.22758. Epub 2013 Feb 8.

Cystic fibrosis in a Hispanic adolescent

Jenny H Lin  1 , Joseph M Collaco, Shruti M Paranjape
Affiliations
Case Reports

Cystic fibrosis in a Hispanic adolescent

Jenny H Lin et al. Pediatr Pulmonol. 2014 Mar.

Abstract

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 CFTR 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.

Keywords: Hispanic; cystic fibrosis; frameshift mutation.

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Conflict of interest statement

Conflict of interest: None.

References

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