New clinical diagnostic procedures for cystic fibrosis in Europe

K De Boeck, N Derichs, I Fajac, HR de Jonge, I Bronsveld, I Sermet, F Vermeulen, DN Sheppard, H Cuppens, M Hug, P Melotti, PG Middleton, M Wilschanski, Group ECFS Diagnostic Network Working, diagnosis EuroCareCF WP3 Group on CF

Research output: Contribution to journalArticle (Academic Journal)peer-review

103 Citations (Scopus)


In the majority of cases, there is no difficulty in diagnosing Cystic Fibrosis (CF). However, there may be wide variation in signs and symptoms between individuals which encourage the scientific community to constantly improve the diagnostic tests available and develop better methods to come to a final diagnosis in patients with milder phenotypes. This paper is the result of discussions held at meetings of the European Cystic Fibrosis Society Diagnostic Network supported by EuroCareCF. CFTR bioassays in the nasal epithelium (nasal potential difference measurements) and the rectal mucosa (intestinal current measurements) are discussed in detail including efforts to standardize the techniques across Europe. New approaches to evaluate the sweat gland, future of genetic testing and methods on the horizon like CFTR expression in human leucocytes and erythrocytes are discussed briefly.
Translated title of the contributionNew clinical diagnostic procedures for cystic fibrosis in Europe
Original languageEnglish
Pages (from-to)S53 - S66
Number of pages14
JournalJournal of Cystic Fibrosis
Volume10 Supplement 2
Publication statusPublished - Jun 2011

Bibliographical note

Publisher: Elsevier B.V


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