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.
Keywords: Cystic fibrosis, poly T5, polymorphism, CFTR, genetics, FERD.
Current Respiratory Medicine Reviews
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.
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Presti Santiago, Lo Bianco Manuela, Papale Maria*, Balconara Desiree, Tosto Monica, Sciuto Laura, Mollica Federico, Mule Enza, Aloisio Donatella and Rotolo Novella, Recurrent Wheezing in a Child: Unraveling Atypical Presentations of Cystic Fibrosis and Polymorphisms: A Case Report, Current Respiratory Medicine Reviews 2024; 20 (4) . https://dx.doi.org/10.2174/011573398X284981240402060853
DOI https://dx.doi.org/10.2174/011573398X284981240402060853 |
Print ISSN 1573-398X |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-6387 |
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Chronic obstructive pulmonary disease (COPD) from childhood to adulthood: from the past to the future
Chronic obstructive pulmonary disease (COPD) is one of the three leading causes of death worldwide, with a major prevalence in low- and middle-income countries, resulting in a high social and economic cost. It is a heterogeneous respiratory disease, treatable and preventable, that causes persistent and often progressive airway obstruction in ...read more
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