Title :

Genetic diagnosis in practice: from cystic fibrosis to cftr-related disorders

Author(s) :

Pagin, Adrien [Auteur]
IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483
Sermet-Gaudelus, I. [Auteur]
Hôpital Necker - Enfants Malades [AP-HP]
Burgel, P.-R. [Auteur]
Hôpital Cochin [AP-HP]

Journal title :

Archives de Pédiatrie

Abbreviated title :

Arch Pediatr

Volume number :

27

Pages :

eS25-eS29

Publisher :

Elsevier

Publication date :

2020-02-01

Article status :

Publié

ISSN :

0929-693X

Keyword(s) :

Cystic fibrosis transmembrane conductance regulator (CFTR)
(CRMS)/CF screen positive inconclusive diagnosis (CFSPID)
CFTR-related metabolic syndrome
CFTR-related disorders (CFTR-RD)
Cystic fibrosis (CF)

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal ...
Show more >Cystic fibrosis (CF) is a channelopathy caused by mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein. Diagnosis of CF has long relied on a combination of clinical (including gastrointestinal and/or respiratory) symptoms and elevated sweat chloride concentration. After cloning of the CFTR gene in 1989, genetic analysis progressively became an important aspect of diagnosis. Although combination of sweat test and genetic analysis have simplified the diagnosis of CF in most cases, difficult situations remain, especially in cases that do not fulfill all diagnostic criteria. Such situations are most frequently encountered in patients presenting with a single-organ disease (e.g., congenital absence of the vas deferens, pancreatitis, bronchiectasis) leading to a diagnosis of CFTR-related disorder, or when the presence/ absence of CF is not resolved after newborn screening. This article reviews the diagnostic criteria of CF, with special emphasis on genetic testing. 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
Institut Pasteur de Lille
Université de Lille

Collections :

• IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483

Submission date :

2022-02-02T10:24:45Z
2022-10-05T08:12:38Z