Mild cystic fibrosis. A case report

Domenico Dell’Edera, Donatello Salvatore, Michele Benedetto, Antonio Lovaglio, Manuela Leo, Annunziata Anna Epifania

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)316-317
Number of pages2
JournalJournal of the Pancreas
Volume16
Issue number3
Publication statusPublished - 2015

Fingerprint

Cystic Fibrosis
Regulator Genes
Inborn Genetic Diseases
Molecular Pathology
Sweat
Mutation
Population

Keywords

  • Conductance
  • Cystic
  • Fibrosis
  • Regulator
  • Transmembrane

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Hepatology

Cite this

Dell’Edera, D., Salvatore, D., Benedetto, M., Lovaglio, A., Leo, M., & Epifania, A. A. (2015). Mild cystic fibrosis. A case report. Journal of the Pancreas, 16(3), 316-317.

Mild cystic fibrosis. A case report. / Dell’Edera, Domenico; Salvatore, Donatello; Benedetto, Michele; Lovaglio, Antonio; Leo, Manuela; Epifania, Annunziata Anna.

In: Journal of the Pancreas, Vol. 16, No. 3, 2015, p. 316-317.

Research output: Contribution to journalArticle

Dell’Edera, D, Salvatore, D, Benedetto, M, Lovaglio, A, Leo, M & Epifania, AA 2015, 'Mild cystic fibrosis. A case report', Journal of the Pancreas, vol. 16, no. 3, pp. 316-317.
Dell’Edera D, Salvatore D, Benedetto M, Lovaglio A, Leo M, Epifania AA. Mild cystic fibrosis. A case report. Journal of the Pancreas. 2015;16(3):316-317.
Dell’Edera, Domenico ; Salvatore, Donatello ; Benedetto, Michele ; Lovaglio, Antonio ; Leo, Manuela ; Epifania, Annunziata Anna. / Mild cystic fibrosis. A case report. In: Journal of the Pancreas. 2015 ; Vol. 16, No. 3. pp. 316-317.
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