Médecine

Paramédical

Autres domaines


S'abonner

The diagnosis of cystic fibrosis - 01/08/17

Doi : 10.1016/j.lpm.2017.04.010 
Kris De Boeck 1, , Francois Vermeulen 1, Lieven Dupont 2
1 University of Leuven, Department of Pulmonology, 3000 Leuven, Belgium 
2 University of Leuven, Department of Pulmonology, Leuven, Belgium 

Kris De Boeck, University of Leuven, Department of Pediatrics, Pediatric Pulmonology, 3000 Leuven, Belgium.

Bienvenue sur EM-consulte, la référence des professionnels de santé.
Article gratuit.

Connectez-vous pour en bénéficier!

Summary

Establishing the diagnosis of cystic fibrosis (CF) is straight forward in the majority of patients: they present with a clear clinical picture (most frequently chronic respiratory symptoms plus malabsorption), the sweat chloride value is>60mmol/L and two known disease causing CFTR mutations are identified. In less than 5% of subjects, mainly those with a milder or limited phenotype, the diagnostic process is more complex, because initial diagnostic test results are inconclusive: sweat chloride concentration in the intermediate range, less than 2 CF causing mutations identified or both. These patients should be referred to expert centers where bioassays of CFTR function like nasal potential difference measurement or intestinal current measurement can be done. Still, in some patients, despite symptoms compatible with CF and some indication of CFTR dysfunction (e.g. only intermediate sweat chloride value), diagnostic criteria are not met (e.g. only 1 CFTR mutation identified). For these subjects, the term CFTR related disorder (CFTR-RD) is used. Patients with disseminated bronchiectasis, congenital bilateral absence of the vas deferens and acute or recurrent pancreatitis may fall in this category. CF has a very wide disease spectrum and increasingly the diagnosis is being made during adult life, mainly in subjects with milder phenotypes. In many countries, nationwide CF newborn screening (NBS) has been introduced. In screen positive babies, the diagnosis of CF must be confirmed by a sweat test demonstrating a sweat chloride concentration above 60mmol/L. To achieve the benefit of NBS, every baby in whom the diagnosis of CF is confirmed must receive immediate follow-up and treatment in a CF reference center. CF NBS is not full proof: some diagnoses will be missed and in some babies the diagnosis cannot be confirmed nor ruled out with certainty. Screening algorithms that include gene sequencing will detect a high number of such babies that are screen positive with an inconclusive diagnosis (CFSPID). Even in 2016, the most reliable and widely available diagnostic test for CF is the measurement of chloride concentration in sweat. The method of choice is sweat induction by pilocarpine iontophoresis, followed by sweat collection on a gauze or filter paper or in a Macroduct coil. Since mutation specific therapies have become available, it is important to identify the mutations responsible for CF in each individual patient.

Glossary

CF : cystic fibrosis
CFSPID : cystic fibrosis screen positive inconclusive diagnosis
CFTR : cystic fibrosis transmembrane regulator
CFTR-RD : cystic fibrosis transmembrane regulator related disorder
ECFSPR : European cystic fibrosis society patient registry
ENaC : Epithelial sodium channel
FIS : forskolin induced swelling
ICM : intestinal current measurement
IRT : immunoreactive trypsinogen
NBS : newborn screening
NPD : nasal potential difference

Le texte complet de cet article est disponible en PDF.

Plan


© 2017  Elsevier Masson SAS. Tous droits réservés.
Ajouter à ma bibliothèque Retirer de ma bibliothèque Imprimer
Export

    Export citations

  • Fichier

  • Contenu

Vol 46 - N° 6P2

P. e97-e108 - juin 2017 Retour au numéro
Article précédent Article précédent
  • The changing epidemiology and demography of cystic fibrosis
  • Anne L. Stephenson, Sanja Stanojevic, Jenna Sykes, Pierre-Regis Burgel
| Article suivant Article suivant
  • Common clinical features of CF (respiratory disease and exocrine pancreatic insufficiency)
  • Ranjani Somayaji, Kathleen J. Ramos, Siddhartha G. Kapnadak, Moira L. Aitken, Christopher H. Goss

Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.

Mon compte


Plateformes Elsevier Masson

Déclaration CNIL

EM-CONSULTE.COM est déclaré à la CNIL, déclaration n° 1286925.

En application de la loi nº78-17 du 6 janvier 1978 relative à l'informatique, aux fichiers et aux libertés, vous disposez des droits d'opposition (art.26 de la loi), d'accès (art.34 à 38 de la loi), et de rectification (art.36 de la loi) des données vous concernant. Ainsi, vous pouvez exiger que soient rectifiées, complétées, clarifiées, mises à jour ou effacées les informations vous concernant qui sont inexactes, incomplètes, équivoques, périmées ou dont la collecte ou l'utilisation ou la conservation est interdite.
Les informations personnelles concernant les visiteurs de notre site, y compris leur identité, sont confidentielles.
Le responsable du site s'engage sur l'honneur à respecter les conditions légales de confidentialité applicables en France et à ne pas divulguer ces informations à des tiers.