Is it cystic fibrosis? The challenges of diagnosing cystic fibrosis.
Cystic fibrosis
Diagnosis
Genotyping
Intestinal current measurement
Nasal potential difference
Sweat chloride
Journal
Paediatric respiratory reviews
ISSN: 1526-0550
Titre abrégé: Paediatr Respir Rev
Pays: England
ID NLM: 100898941
Informations de publication
Date de publication:
Aug 2019
Aug 2019
Historique:
received:
20
02
2019
accepted:
20
02
2019
pubmed:
11
4
2019
medline:
27
2
2020
entrez:
11
4
2019
Statut:
ppublish
Résumé
The spectrum of conditions caused by abnormal CFTR function is broad - from 'classic' cystic fibrosis (CF) to single organ conditions termed CFTR-related disorders. Defining and securing the diagnosis in an important minority of patients can be a challenge as the sweat test is equivocal or normal; the impact this has on the patient (at different stages of their life) can be very significant as it has the potential to lead to misdiagnosis and over (or under) treatment with associated psychological burden. The nasal potential difference test and intestinal current measurements are physiological measurements of CFTR function and thus can provide important diagnostic information. This article provides an overview of the latest developments in CF diagnostics, outlining the approach to be taken when the diagnosis is unclear and some of the areas of uncertainty.
Identifiants
pubmed: 30967347
pii: S1526-0542(19)30018-1
doi: 10.1016/j.prrv.2019.02.004
pii:
doi:
Substances chimiques
CFTR protein, human
0
Chlorides
0
Cystic Fibrosis Transmembrane Conductance Regulator
126880-72-6
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
6-8Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.