Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data

Thorax
N DerichsManfred Ballmann

Abstract

In questionable cystic fibrosis (CF), mild or monosymptomatic phenotypes frequently cause diagnostic difficulties despite detailed algorithms. CF transmembrane conductance regulator (CFTR)-mediated ion transport can be studied ex vivo in rectal biopsies by intestinal current measurement (ICM). To describe reference values and validate ICM for the diagnostic classification of questionable CF at all patient ages. ICM was performed in 309 rectal biopsies from 130 infants, children and adults including patients with known pancreatic-insufficient (PI)-CF (n=34), pancreatic-sufficient (PS)-CF (n=7), patients with an unclear diagnosis with mild CF symptoms, intermediate sweat test and/or CFTR mutation screening (n=61) and healthy controls (n=28). ICM was correlated to sweat chloride, extensive CFTR genotype and transcript analysis in the diagnostic group. The results were compared with previous ICM data in subjects with CF, congenital bilateral absence of the vas deferens, heterozygotes and controls. The cumulative chloride secretory response of DeltaI(sc,carbachol), DeltaI(sc,cAMP/forskolin) and DeltaI(sc,histamine) was the best diagnostic ICM parameter (cut-off 34 muA/cm(2) between patients with known PS-CF and controls), differenti...Continue Reading

Citations

Jun 18, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·K De BoeckUNKNOWN EuroCareCF WP3 Group on CF diagnosis
Jun 17, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·C BombieriC Ferec
Feb 10, 2016·Clinics in Chest Medicine·John Brewington, J P Clancy
Jun 17, 2014·Pharmacology & Therapeutics·Scott C BellMargarida D Amaral
Jun 9, 2015·Paediatric Respiratory Reviews·Kathryn A RamseyStephen M Stick
Jan 31, 2013·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Claudio SorioPaola Melotti
May 4, 2012·Pediatric Pulmonology·Malena Cohen-CymberknohMichael Wilschanski
Feb 3, 2015·Pediatric Pulmonology·Harm A W M TiddensDavid A Waltz
Jun 3, 2014·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Jeffrey M BeekmanMargarida D Amaral
Feb 14, 2015·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Frank A J A BodewesUNKNOWN Working group C​ystic Fibrosis and Pancreatic Disease of the European Society for Paediatric Gastroenterology Hepatology and
Jul 24, 2014·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Li Li, Shawn Somerset
Aug 11, 2010·Biochimica Et Biophysica Acta·Andrea van BarneveldBurkhard Tümmler
May 1, 2015·BMC Medical Research Methodology·Antonia ZapfFrank Konietschke
Jan 1, 2013·Rare Diseases·Johanna F DekkersJeffrey M Beekman
Apr 22, 2011·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·R A de NooijerI Bronsveld
Jul 18, 2016·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Gloria TridelloPaola Melotti
Oct 22, 2016·Journal of Pediatric Gastroenterology and Nutrition·Michael WilschanskiSteven Freedman
Jan 13, 2018·American Journal of Respiratory and Critical Care Medicine·Simon Y GraeberBurkhard Tümmler
Jan 31, 2019·JAMA : the Journal of the American Medical Association·Cormac McCarthyJohn Brewington
Sep 1, 2018·The European Respiratory Journal·Karin M de Winter-de GrootJeffrey M Beekman
Oct 13, 2016·ERJ Open Research·Patricia Moran LosadaBurkhard Tümmler
Jun 24, 2016·Science Translational Medicine·Johanna F DekkersJeffrey M Beekman
Dec 26, 2018·Frontiers in Pharmacology·Nikhil T AwatadeShafagh A Waters
Aug 29, 2018·Multidisciplinary Respiratory Medicine·Andrea GramegnaFrancesco Blasi
Oct 20, 2020·International Journal of Neonatal Screening·Anne Munck
Feb 10, 2021·International Journal of Neonatal Screening·Anne Munck
Apr 17, 2021·Thorax·Senne CuyxUNKNOWN Belgian Organoid Project
Jun 3, 2021·Journal of Personalized Medicine·Simon Y GraeberMarcus A Mall
Jun 7, 2021·Lancet·Michal ShteinbergJane C Davies
Feb 22, 2017·Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society·Marianne S MuhlebachScott D Sagel

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
H R de JongeM Sinaasappel
Biochimica Et Biophysica Acta
Andrea van BarneveldBurkhard Tummler
© 2021 Meta ULC. All rights reserved