Diagnosis of atypical CF: A case-report to reflect

F. Alghisi, A. Angioni, A. C. Tomaiuolo, M. R. D'Apice, S. Bella, G. Novelli, V. Lucidi

Research output: Contribution to journalArticlepeer-review

Abstract

Non-classic Cystic Fibrosis (CF) still represents a difficult entity to diagnose. We present a case of two sisters affected by mild pulmonary symptoms started at puberty, carriers of the F508del mutation associated with the T5TG13 combination. We discuss the clinical utility of TG repeat testing in individuals carrying the T5 variant. Furthermore, this case-report leads to reflect on the natural history of CF and the correct management of its atypical forms.

Original languageEnglish
Pages (from-to)292-294
Number of pages3
JournalJournal of Cystic Fibrosis
Volume7
Issue number4
DOIs
Publication statusPublished - Jul 2008

Keywords

  • Atypical Cystic Fibrosis
  • CFTR
  • Diagnosis
  • IVS8-5T
  • Poly-TG(m)

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine

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