Title:Recurrent Wheezing in a Child: Unraveling Atypical Presentations of Cystic Fibrosis and Polymorphisms: A Case Report
Volume: 20
Issue: 4
Author(s): Santiago Presti, Manuela Lo Bianco, Maria Papale*, Desiree Balconara, Monica Tosto, Laura Sciuto, Federico Mollica, Enza Mule, Donatella Aloisio and Novella Rotolo
Affiliation:
- Pediatric Respiratory Unit, Department of Clinical and Experimental Medicine, San
Marco Hospital, University of Catania, Catania, Italy
Keywords:
Cystic fibrosis, poly T5, polymorphism, CFTR, genetics, FERD.
Abstract:
Background: Cystic Fibrosis (CF), is the most common, life-limiting, single-gene disease
affecting the Caucasian population, with a reported incidence of1/3500 births. It is inherited
in an autosomal recessive fashion and its diagnosis is notably challenging, since in several cases
CF may not be detected by the newborn screening test and the sweat test, which are frequently reported
negative of with doubtful results, especially in cases with atypical symptoms at onset or
with uncommon mutations or polymorphisms.
Case Presentation: In this case, we present a case of CF presented with recurrent wheezing, reporting
multiple negative or borderline sweat tests. The genetic evaluation revealed delta F508
(CF- causing) and heterozygous poly T5 polymorphism TG11 (TG)11T5.
Conclusion: The importance of this case lies in the recognition of wheezing as a symptom and
not as a disease, thus many conditions such as CF have to be considered in its diagnostic process.
Finally, it is of utmost importance to bear in mind that many mutations or polymorphisms might
evade newborn screening and sweat tests.
