Mild Cystic Fibrosis. A Case Report

  • Domenico Dell’Edera Units of Cytogenetic and Molecular Genetics, "Madonna delle Grazie" Hospital. Matera, Italy
  • Donatello Salvatore Cystic Fibrosis Centre, AOR San Carlo Hospital. Potenza, Italy
  • Michele Benedetto Units of Cytogenetic and Molecular Genetics, "Madonna delle Grazie" Hospital. Matera, Italy
  • Antonio Lovaglio Department of Political Person, Basilicata Region. Potenza, Italy
  • Manuela Leo Units of Cytogenetic and Molecular Genetics, "Madonna delle Grazie" Hospital. Matera, Italy
  • Annunziata Anna Epifania Unit of Clinical Chemistry, "Madonna delle Grazie" Hospital. Matera, Italy
Keywords: Cystic Fibrosis Transmembrane Conductance Regulator

Abstract

Context 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 cystic fibrosis transmembrane regulator gene and the other to dramatically increase the predictive power of molecular testing. Case report This study wants to underline that the identification of individuals with atypical cystic fibrosis can sometimes present particular difficulties of interpretation. Conclusion 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 cystic fibrosis transmembrane regulator gene.

Image: Madonna delle Grazie Hospital. Matera, Italy.

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References

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Madonna delle Grazie Hospital. Matera, Italy
Published
2015-05-20
How to Cite
Dell’Edera, D., Salvatore, D., Benedetto, M., Lovaglio, A., Leo, M., & Epifania, A. (2015). Mild Cystic Fibrosis. A Case Report. JOP. Journal of the Pancreas, 16(3), 316-317. https://doi.org/10.6092/1590-8577/3005
Section
CASE REPORTS