Cystic fibrosis: terminology and diagnostic algorithms

K De Boeck, M Wilschanski, C Castellani, C Taylor… - Thorax, 2006 - thorax.bmj.com
There is great heterogeneity in the clinical manifestations of cystic fibrosis (CF). Some
patients may have all the classical manifestations of CF from infancy and have a relatively …

Cystic fibrosis: insight into CFTR pathophysiology and pharmacotherapy

B Lubamba, B Dhooghe, S Noel, T Leal - Clinical biochemistry, 2012 - Elsevier
Cystic fibrosis is the most common life-threatening recessively inherited disease in
Caucasians. Due to early provision of care in specialized reference centers and more …

Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report

PM Farrell, BJ Rosenstein, TB White, FJ Accurso… - The Journal of …, 2008 - Elsevier
Newborn screening (NBS) for cystic fibrosis (CF) is increasingly being implemented and is
soon likely to be in use throughout the United States, because early detection permits …

Diagnosis of cystic fibrosis in screened populations

PM Farrell, TB White, MS Howenstine, A Munck… - The Journal of …, 2017 - Elsevier
Objective Cystic fibrosis (CF) can be difficult to diagnose, even when newborn screening
(NBS) tests yield positive results. This challenge is exacerbated by the multitude of NBS …

[HTML][HTML] Sweat chloride as a biomarker of CFTR activity: proof of concept and ivacaftor clinical trial data

FJ Accurso, F Van Goor, J Zha, AJ Stone, Q Dong… - Journal of Cystic …, 2014 - Elsevier
Background We examined data from a Phase 2 trial {NCT00457821} of ivacaftor, a CFTR
potentiator, in cystic fibrosis (CF) patients with a G551D mutation to evaluate standardized …

Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection

TM Ziedalski, PN Kao, NR Henig, SS Jacobs, SJ Ruoss - Chest, 2006 - Elsevier
Background Bronchiectasis and pulmonary infection with nontuberculous mycobacteria
(NTM) may be associated with disease-causing mutations in the cystic fibrosis …

Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals

A Mishra, R Greaves, K Smith, JB Carlin… - The Journal of …, 2008 - Elsevier
OBJECTIVE: To develop reference intervals (RIs) for sweat chloride and sodium in healthy
children, adolescents, and adults. STUDY DESIGN: Healthy, unrelated subjects aged from 5 …

[HTML][HTML] Biological variability of the sweat chloride in diagnostic sweat tests: a retrospective analysis

F Vermeulen, P Lebecque, K De Boeck, T Leal - Journal of Cystic Fibrosis, 2017 - Elsevier
Background The sweat test is the current gold standard for the diagnosis of cystic fibrosis
(CF). CF is unlikely when sweat chloride (Cl sw) is lower than 30 mmol/L, Cl sw> 60 is …

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport

I Sermet-Gaudelus, E Girodon, D Sands… - American journal of …, 2010 - atsjournals.org
Rationale: The diagnosis of cystic fibrosis (CF) is based on a characteristic clinical picture in
association with a sweat chloride (Cl−) concentration greater than 60 mmol/L or the …

Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis

C Goubau, M Wilschanski, V Skalická, P Lebecque… - Thorax, 2009 - thorax.bmj.com
Background: In patients with symptoms suggestive of cystic fibrosis (CF) and intermediate
sweat chloride values (30–60 mmol/l), extensive CFTR gene mutation analysis and nasal …