Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis.
Case report
Controversial diagnosis
Cystic fibrosis
Cystic fibrosis transmembrane conductance regulator function
Intestinal current
Organoids
Recurrent acute pancreatitis
Sweat test
Journal
World journal of clinical cases
ISSN: 2307-8960
Titre abrégé: World J Clin Cases
Pays: United States
ID NLM: 101618806
Informations de publication
Date de publication:
26 Nov 2019
26 Nov 2019
Historique:
received:
18
05
2019
revised:
16
09
2019
accepted:
15
10
2019
entrez:
5
12
2019
pubmed:
5
12
2019
medline:
5
12
2019
Statut:
ppublish
Résumé
Acute recurrent pancreatitis (ARP) is characterized by episodes of acute pancreatitis in an otherwise normal gland. When no cause of ARP is identifiable, the diagnosis of "idiopathic" ARP is given. Mutations in the cystic fibrosis transmembrane conductance regulator ( In non-classical CF or CFTR-related disorders, CFTR functional tests can help to ensure a proper diagnosis. We applied an individualized combination of standardized and new CFTR functional bioassays for a patient referred to the Verona CF Center for evaluation after several episodes of acute pancreatitis. The Combination of innovative CFTR functional assays might support a controversial diagnosis when CFTR-related disorders and/or non-classical CF are suspected.
Sections du résumé
BACKGROUND
BACKGROUND
Acute recurrent pancreatitis (ARP) is characterized by episodes of acute pancreatitis in an otherwise normal gland. When no cause of ARP is identifiable, the diagnosis of "idiopathic" ARP is given. Mutations in the cystic fibrosis transmembrane conductance regulator (
CASE SUMMARY
METHODS
In non-classical CF or CFTR-related disorders, CFTR functional tests can help to ensure a proper diagnosis. We applied an individualized combination of standardized and new CFTR functional bioassays for a patient referred to the Verona CF Center for evaluation after several episodes of acute pancreatitis. The
CONCLUSION
CONCLUSIONS
Combination of innovative CFTR functional assays might support a controversial diagnosis when CFTR-related disorders and/or non-classical CF are suspected.
Identifiants
pubmed: 31799301
doi: 10.12998/wjcc.v7.i22.3757
pmc: PMC6887611
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3757-3764Informations de copyright
©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
Références
Thorax. 2010 Jul;65(7):594-9
pubmed: 20627915
PLoS One. 2011;6(7):e22212
pubmed: 21811577
J Cyst Fibros. 2014 Jan;13(1):24-8
pubmed: 24022019
PLoS One. 2013 Oct 24;8(10):e77114
pubmed: 24204751
PLoS Genet. 2014 Jul 17;10(7):e1004376
pubmed: 25033378
Nat Med. 2013 Jul;19(7):939-45
pubmed: 23727931
World J Gastroenterol. 2014 Dec 7;20(45):16891-901
pubmed: 25493002
Gastroenterology. 2011 Jan;140(1):153-61
pubmed: 20923678
Pediatrics. 1959 Mar;23(3):545-9
pubmed: 13633369
J Cyst Fibros. 2014 Jul;13(4):363-72
pubmed: 24882694
J Cyst Fibros. 2018 Mar;17(2):186-189
pubmed: 29292091
Chest. 2004 Oct;126(4):1215-24
pubmed: 15486385
Pediatr Res. 2019 Jul 25;:null
pubmed: 31344706
J Pediatr. 2017 Feb;181S:S4-S15.e1
pubmed: 28129811
PLoS One. 2014 Feb 10;9(2):e88564
pubmed: 24520399
Thorax. 2006 Jul;61(7):627-35
pubmed: 16384879
J Cyst Fibros. 2011 Jun;10 Suppl 2:S86-102
pubmed: 21658649