alexa Atypical Cystic Fibrosis: Case Report
ISSN: 2329-6682

Gene Technology
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Case Report

Atypical Cystic Fibrosis: Case Report

Domenico Dell’Edera1*, Donatello Salvatore2, Manuela Leo1, Carmela Santacesaria1, Arianna Allegretti1 and Annunziata Anna Epifania3
1Unit of Cytogenetic and Molecular Genetics, Madonna delle Grazie Hospital, Matera, Italy
2Cystic Fibrosis Centre, AOR San Carlo Hospital, street Potito Petrone 1, 85100 Potenza, Italy
3Unit of Clinical Chemistry, Madonna delle Grazie Hospital, Matera, Italy
Corresponding Author : Domenico Dell'Edera
Unit of Cytogenetic and Molecular Genetics
Madonna delle Grazie Hospital
Contrada Cattedra Ambulante
Matera I-75100, Italy
E-mail: [email protected]
Received November 11, 2014; Accepted February 13, 2015; Published February 17, 2015
Citation: Dell'Edera D, Leo M, Santacesaria C, Allegretti A, Salvatore D, et al. (2015) Atypical Cystic Fibrosis: Case Report. Gene Technology 4:115. doi:10.4172/2329-6682.1000115
Copyright: © 2015 Dell’Edera D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Cystic Fibrosis is the most common autosomal recessive genetic disease in Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the CFTR gene and the other to dramatically increase the predictive power of molecular testing. This study wants to underline that the identification of individuals with atypical cystic fibrosis can sometimes present particular difficulties of interpretation. On that ground, if there is a strong clinical suspicion, it is always advisable the biochemical study by performing the sweat test, followed by sequencing of the CFTR gene.

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