Assessing accuracy of testing and diagnosis in cystic fibrosis

References

• Hegyi P, Wilschanski M, Muallem S, et al. CFTR: a new horizon in the pathomechanism and treatment of pancreatitis. Rev Physiol Biochem Pharmacol. 2016;170:37–66.
   PubMed Web of Science ®Google Scholar
• Saint-Criq V, Gray MA. Role of CFTR in epithelial physiology. Cell Mol Life Sci. 2017;74(1):93.
   PubMed Web of Science ®Google Scholar
• Farrell PM, White TB, Ren CL, et al. Diagnosis of cystic fibrosis: consensus guidelines from the cystic fibrosis foundation. J Pediatr. 2017;181:S4–15.1.
   PubMed Web of Science ®Google Scholar
• Sermet-Gaudelus I, Girodon E, Vermeulen F, et al. ECFS standards of care on CFTR-related disorders: diagnostic criteria of CFTR dysfunction. J Cystic Fibrosis. 2022;21(6):922–936. DOI:10.1016/j.jcf.2022.09.005
   PubMed Web of Science ®Google Scholar
• Schrijver I, Pique L, Graham S, et al. The Spectrum of CFTR Variants in Nonwhite Cystic Fibrosis Patients: implications for Molecular Diagnostic Testing. J Mol Diagn. Internet. 2016 [cited 2023 Mar 21]. ;181:39–50. 10.1016/j.jmoldx.2015.07.005.
   PubMed Web of Science ®Google Scholar
• de Boeck K, Derichs N, Fajac I, et al. New clinical diagnostic procedures for cystic fibrosis in Europe. J Cystic Fibrosis. 2011;10:53–66.
   PubMed Web of Science ®Google Scholar
• Heijerman HGM, McKone EF, Downey DG, et al. Efficacy and safety of the elexacaftor plus tezacaftor plus ivacaftor combination regimen in people with cystic fibrosis homozygous for the F508del mutation: a double-blind, randomised, phase 3 trial. Lancet. 2019;394(10212):1940–1948. DOI:10.1016/S0140-6736(19)32597-8
   PubMed Web of Science ®Google Scholar
• Ramsey BW, Davies J, McElvaney NG, et al. A CFTR potentiator in patients with cystic fibrosis and the G551D mutation. N Engl J Med. 2011;365(18):1663. DOI:10.1056/NEJMoa1105185
   PubMed Web of Science ®Google Scholar
• Bombieri C, Claustres M, de Boeck K, et al. Recommendations for the classification of diseases as CFTR-related disorders. J Cystic Fibrosis. 2011;10:S86–102.
   PubMed Web of Science ®Google Scholar
• Castellani C, de Boeck K, de Wachter E. ECFS standards of care on CFTR-related disorders: updated diagnostic criteria. J Cystic Fibrosis. 2022;12(6):45.
   Google Scholar
• Šimundić A-M. Measures of diagnostic accuracy: basic definitions. EJIFCC. 2009;19(4):203.
   PubMedGoogle Scholar
• Collie JTB, Massie RJ, Jones OAH, et al. Sixty-five years since the New York heat wave: advances in sweat testing for cystic fibrosis. Pediatr Pulmonol. 2014;49(2):106–117. DOI:10.1002/ppul.22945
   PubMed Web of Science ®Google Scholar
• Mackay R, George P, Kirk J. Sweat testing for cystic fibrosis: a review of New Zealand laboratories. J Paediatr Child Health. Internet. 2006 [cited 2023 Jan 2] ;424 :160–164. 10.1111/j.1440-1754.2006.00822.x.
   PubMed Web of Science ®Google Scholar
• Aralica M, Krleza JL. Evaluating performance in sweat testing in medical biochemistry laboratories in Croatia. Biochem Med (Zagreb). Internet. 2017 [[cited 2023 Jan 2]];27:122–130. 10.11613/BM.2017.016.
   PubMed Web of Science ®Google Scholar
• Servidoni MF, Gomez CCS, Marson FAL, et al. Sweat test and cystic fibrosis: overview of test performance at public and private centers in the state of São Paulo, Brazil. J Bras Pneumol. Internet. 2017 [cited 2023 Jan 2]. ;432:121–128. 10.1590/s1806-37562016000000076.
   PubMed Web of Science ®Google Scholar
• Sant’agnese P D, Darling RC, Perera GA, et al. Abnormal electrolyte composition of sweat in cystic fibrosis of the pancreas. Clinical significance and relationship to the disease. Pediatrics. 1953;12(5):549–563. DOI:10.1542/peds.12.5.549
   PubMed Web of Science ®Google Scholar
• Gibson LE, Cooke RE. A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis. Pediatrics. 1959;23(3):545–549.
   PubMed Web of Science ®Google Scholar
• Sens DA, Simmons MA, Spicer SS. The analysis of human sweat proteins by isoelectric focusing. I. Sweat collection utilizing the Macroduct system demonstrates the presence of previously unrecognized sex-related Proteins. Pediat Res. 1985;19(8):8. 1985;19:873–878. DOI:10.1203/00006450-198508000-00020.
   PubMed Web of Science ®Google Scholar
• Rose JB, Ellis L, John B, et al. Does the Macroduct® collection system reliably define sweat chloride concentration in subjects with intermediate results? Clin Biochem. 2009;42(12):1260–1264. DOI:10.1016/j.clinbiochem.2009.05.001
   PubMed Web of Science ®Google Scholar
• Webster HL, Rundell CA. Laboratory diagnosis of cystic fibrosis. Crit Rev Clin Lab Sci. 1983;18(4):313–338.
   PubMed Web of Science ®Google Scholar
• Cimbalo C, Tosco A, Terlizzi V, et al. Elevated sweat chloride test: is it always cystic fibrosis? Ital J Pediatr. Internet. 2021 [cited 2022 Dec 19]. ;471:1–5. 10.1186/s13052-021-01060-1.
   PubMed Web of Science ®Google Scholar
• Cirilli N, Southern KW, Buzzetti R, et al. Real life practice of sweat testing in Europe. J Cystic Fibrosis. 2018;17(3):325–332. DOI:10.1016/j.jcf.2017.09.002
   Web of Science ®Google Scholar
• Accurso FJ, van Goor F, Zha J, et al. Sweat chloride as a biomarker of CFTR activity: proof of concept and ivacaftor clinical trial data. J Cystic Fibrosis. 2014;13(2):139–147. DOI:10.1016/j.jcf.2013.09.007
   PubMed Web of Science ®Google Scholar
• Salvatore M, Amato A, Floridia G, et al. The Italian external quality assessment program for cystic fibrosis sweat chloride test: does active participation improve the quality? Int J Environ Res Public Health. 2020;17(9):3196. DOI:10.3390/ijerph17093196
   PubMed Web of Science ®Google Scholar
• Mishra A, Greaves R, Smith K, et al. Diagnosis of cystic fibrosis by sweat testing: age-specific reference intervals. J Pediatr. 2008;153(6):153. DOI:10.1016/j.jpeds.2008.04.067
   PubMed Web of Science ®Google Scholar
• Vermeulen F, Lebecque P, de Boeck K, et al. Biological variability of the sweat chloride in diagnostic sweat tests: a retrospective analysis. J Cystic Fibrosis. 2017;16(1):30–35. DOI:10.1016/j.jcf.2016.11.008
   PubMed Web of Science ®Google Scholar
• Vermeulen F, le Camus C, Davies JC, et al. Variability of sweat chloride concentration in subjects with cystic fibrosis and G551D mutations. J Cystic Fibrosis. 2017;16(1):36–40. DOI:10.1016/j.jcf.2016.02.015
   PubMed Web of Science ®Google Scholar
• Mishra A, Greaves R, Massie J. The relevance of sweat testing for the diagnosis of cystic fibrosis in the genomic era. Clin Biochem Rev. 2005;26(4):135.
   PubMedGoogle Scholar
• Highsmith WE, Burch LH, Zhou Z, et al. A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med. 1994;331(15):974–980. DOI:10.1056/NEJM199410133311503
   PubMed Web of Science ®Google Scholar
• Gonska T, Choi P, Stephenson A, et al. Role of cystic fibrosis transmembrane conductance regulator in patients with chronic sinopulmonary disease. Chest. 2012;142(4):996–1004. DOI:10.1378/chest.11-2543
   PubMed Web of Science ®Google Scholar
• Ooi CY, Dupuis A, Ellis L, et al. Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis? Thorax. 2014;69(3):254–260. DOI:10.1136/thoraxjnl-2013-203832
   PubMed Web of Science ®Google Scholar
• Wilschanski M, Dupuis A, Ellis L, et al. Mutations in the cystic fibrosis transmembrane regulator gene and in vivo transepithelial potentials. Am J Respir Crit Care Med. 2006;174(7):787–794. DOI:10.1164/rccm.200509-1377OC
   PubMed Web of Science ®Google Scholar
• Kyrilli S, Henry T, Wilschanski M, et al. Insights into the variability of nasal potential difference, a biomarker of CFTR activity. J Cyst Fibros. 2020;19(4):620–626. DOI:10.1016/j.jcf.2019.09.015
   PubMed Web of Science ®Google Scholar
• O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet. 2009;373(9678):1891–1904.
   PubMed Web of Science ®Google Scholar
• Fidler MC, Beusmans J, Panorchan P, et al. Correlation of sweat chloride and percent predicted FEV1 in cystic fibrosis patients treated with ivacaftor. J Cystic Fibrosis. 2017;16(1):41–44. DOI:10.1016/j.jcf.2016.10.002
   PubMed Web of Science ®Google Scholar
• Davis PB, Schluchter MD, Konstan MW. Relation of sweat chloride concentration to severity of lung disease in cystic fibrosis. Pediatr Pulmonol. 2004;38(3):204–209.
   PubMed Web of Science ®Google Scholar
• Durmowicz AG, Witzmann KA, Rosebraugh CJ, et al. Change in sweat chloride as a clinical end point in cystic fibrosis clinical trials: the ivacaftor experience. Chest. 2013;143(1):14–18. DOI:10.1378/chest.12-1430
   PubMed Web of Science ®Google Scholar
• Caudri D, Zitter D, Bronsveld I, et al. Is sweat chloride predictive of severity of cystic fibrosis lung disease assessed by chest computed tomography? Pediatr Pulmonol. 2017;52(9):1135–1141. DOI:10.1002/ppul.23739
   PubMed Web of Science ®Google Scholar
• Gokdemir Y, Karadag BT. Sweat testing and recent advances. Front Pediatr. 2021;9. DOI:10.3389/fped.2021.649904
   Web of Science ®Google Scholar
• Domingos MT, Magdalena NIR, Cat MNL, et al. Sweat conductivity and coulometric quantitative test in neonatal cystic fibrosis screening. J Pediatr (Rio J). 2015;91(6):590–595. DOI:10.1016/j.jped.2015.03.003
   PubMed Web of Science ®Google Scholar
• Mattar ACV, Leone C, Rodrigues JC, et al. Sweat conductivity: an accurate diagnostic test for cystic fibrosis? J Cystic Fibrosis. 2014;13(5):528–533. DOI:10.1016/j.jcf.2014.01.002
   PubMed Web of Science ®Google Scholar
• Cinel G, Doğru D, Yalçın E, et al. Sweat conductivity test: can it replace chloride titration for cystic fibrosis diagnosis? Turk J Pediatr. 2012;54(6):576–582.
   PubMed Web of Science ®Google Scholar
• Lezana JL, Vargas MH, Karam-Bechara J, et al. Sweat conductivity and chloride titration for cystic fibrosis diagnosis in 3834 subjects. J Cystic Fibrosis. 2003;2(1):1–7. DOI:10.1016/S1569-1993(02)00146-7
   PubMedGoogle Scholar
• Hammond KB, Turcios NL, Gibson LE. Clinical evaluation of the Macroduct sweat collection system and conductivity analyzer in the diagnosis of cystic fibrosis. J Pediatr. 1994;124(2):255–260.
   PubMed Web of Science ®Google Scholar
• Beauchamp M, Lands LC. Sweat-testing: a review of current technical requirements. Pediatr Pulmonol. 2005;39(6):507–511.
   PubMed Web of Science ®Google Scholar
• Quinton P, Molyneux L, Ip W, et al. β-Adrenergic sweat secretion as a diagnostic test for cystic fibrosis. Am J Respir Crit Care Med. 2012;186(8):732–739. DOI:10.1164/rccm.201205-0922OC
   PubMed Web of Science ®Google Scholar
• Wine JJ, Char JE, Chen J, et al. In vivo readout of CFTR function: ratiometric measurement of CFTR-dependent secretion by individual, identifiable human sweat glands. PLoS ONE. 2013;8(10):e77114. DOI:10.1371/journal.pone.0077114
   PubMed Web of Science ®Google Scholar
• Wine JJ. How the sweat gland reveals levels of CFTR activity. J Cystic Fibrosis. 2022;21(3):396–406.
   PubMedGoogle Scholar
• Zampoli M, Verstraete J, Nguyen-Khoa T, et al. β-adrenergic sweat test in children with inconclusive cystic fibrosis diagnosis: do we need new reference ranges? Pediatr Pulmonol. Internet. 2023 [cited 2023 Jan 2]. ;581:187–196. 10.1002/ppul.26179.
   PubMed Web of Science ®Google Scholar
• Pallenberg ST, Junge S, Ringshausen FC, et al. CFTR modulation with elexacaftor-tezacaftor-ivacaftor in people with cystic fibrosis assessed by the β-adrenergic sweat rate assay. J Cystic Fibrosis. 2022;21(3):47. DOI:10.1016/j.jcf.2021.10.005
   Google Scholar
• Rowe SM, Heltshe SL, Gonska T, et al. Clinical Mechanism of the Cystic Fibrosis Transmembrane Conductance Regulator Potentiator Ivacaftor in G551D-mediated Cystic Fibrosis. Am J Respir Crit Care Med. Internet. 2014 [cited 2023 Jan 30]. ;1902:175–184. 10.1164/rccm.201404-0703OC.
   PubMed Web of Science ®Google Scholar
• Knowles MR, Paradiso AM, Boucher RC. In vivo nasal potential difference: techniques and protocols for assessing efficacy of gene transfer in cystic fibrosis. Hum Gene Ther. 1995;6(4):445–455.
   PubMed Web of Science ®Google Scholar
• Schüler D, Sermet-Gaudelus I, Wilschanski M, et al. Basic protocol for transepithelial nasal potential difference measurements. J Cystic Fibrosis. 2004;3:151–155.
   PubMedGoogle Scholar
• Ooi CY, Dupuis A, Gonska T, et al. Does integration of various ion channel measurements improve diagnostic performance in cystic fibrosis? Ann Am Thorac Soc. Internet. 2014 [cited 2022 Nov 19]. ;114:562–570. 10.1513/AnnalsATS.201311-412OC.
   PubMedGoogle Scholar
• Knowles MR, Carson JL, Collier AM, et al. Measurements of nasal transepithelial electric potential differences in normal human subjects in vivo. Am Rev Respir Dis. 1981;124(4):484–490. DOI:10.1164/arrd.1981.124.4.484
   PubMed Web of Science ®Google Scholar
• Alton EWFW, Currie D, Logan-Sinclair R, et al. Nasal potential difference: a clinical diagnostic test for cystic fibrosis. Eur Respir J. 1990;3(8):922–926. DOI:10.1183/09031936.93.03080922
   PubMed Web of Science ®Google Scholar
• Solomon GM, Konstan MW, Wilschanski M, et al. An international randomized multicenter comparison of nasal potential difference techniques. Chest. 2010;138:919–928.
   PubMed Web of Science ®Google Scholar
• Vermeulen F, Proesmans M, Feyaerts N, et al. Nasal potential measurements on the nasal floor and under the inferior turbinate: does it matter? Pediatr Pulmonol. 2011;46(2):145–152. DOI:10.1002/ppul.21333
   PubMed Web of Science ®Google Scholar
• Bronsveld I, Vermeulen F, Sands D, et al. Influence of perfusate temperature on nasal potential difference. Eur Respir J. 2013;42(2):389–393. DOI:10.1183/09031936.00097712
   PubMed Web of Science ®Google Scholar
• Naehrlich L, Ballmann M, Davies J, et al. Nasal potential difference measurements in diagnosis of cystic fibrosis: an international survey. J Cystic Fibrosis. 2014;13(1):24–28. DOI:10.1016/j.jcf.2013.08.006
   PubMed Web of Science ®Google Scholar
• Standaert TA, Boitano L, Emerson J, et al. Standardized procedure for measurement of nasal potential difference: an outcome measure in multicenter cystic fibrosis clinical trials. Pediatr Pulmonol. 2004;37(5):385–392. DOI:10.1002/ppul.10448
   PubMed Web of Science ®Google Scholar
• Sermet-Gaudelus I, Girodon E, Sands D, et al. Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport. Am J Respir Crit Care Med. 2010;182(7):929–936. DOI:10.101164/rccm201203-0382OC
   PubMed Web of Science ®Google Scholar
• Tridello G, Menin L, Pintani E, et al. Nasal potential difference outcomes support diagnostic decisions in cystic fibrosis. J Cyst Fibros. 2016;15(5):579–582. DOI:10.1016/j.jcf.2016.06.009
   PubMed Web of Science ®Google Scholar
• Wilschanski M, Famini H, Strauss-Liviatan N, et al. Nasal potential difference measurements in patients with atypical cystic fibrosis. Eur Respir J. 2001;17(6):1208–1215. DOI:10.1183/09031936.01.00092501
   PubMed Web of Science ®Google Scholar
• Middleton PG, House HH. Measurement of airway ion transport assists the diagnosis of cystic fibrosis. Pediatr Pulmonol. 2010;45(8):789–795.
   PubMed Web of Science ®Google Scholar
• Jaron R, Yaakov Y, Rivlin J, et al. Nasal potential difference in non-classic cystic fibrosis—long term follow up. Pediatr Pulmonol. 2008;43(6):545–549. DOI:10.1002/ppul.20807
   PubMed Web of Science ®Google Scholar
• Boucher RC, Bromberg PA, Gatzy JT. Airway transepithelial electric potential in vivo: species and regional differences. J Appl Physiol Respir Environ Exerc Physiol. 1980;48(1):169–176.
   PubMed Web of Science ®Google Scholar
• Yaakov Y, Kerem E, Yahav Y, et al. Reproducibility of nasal potential difference measurements in cystic fibrosis. Chest. 2007;132(4):1219–1226. DOI:10.1378/chest.06-2975
   PubMed Web of Science ®Google Scholar
• Fajac I, Hubert D, Bienvenu T, et al. Relationships between nasal potential difference and respiratory function in adults with cystic fibrosis. Eur Respir J. 1998;12(6):1295–1300. DOI:10.1183/09031936.98.12061295
   PubMed Web of Science ®Google Scholar
• Rowe SM, Liu B, Hill A, et al. Optimizing nasal potential difference analysis for CFTR modulator development: assessment of ivacaftor in CF subjects with the G551D-CFTR mutation. PLoS ONE. 2013;8(7):e66955. DOI:10.1371/journal.pone.0066955
   PubMed Web of Science ®Google Scholar
• Keenan K, Avolio J, Rueckes-Nilges C, et al. Nasal potential difference: best or average result for CFTR function as diagnostic criteria for cystic fibrosis? J Cyst Fibros. 2015;14(3):310–316. DOI:10.1016/j.jcf.2014.09.006
   PubMed Web of Science ®Google Scholar
• Procianoy E da FA, de Abreu e Silva FA, Maróstica PJC, et al. Chloride conductance, nasal potential difference and cystic fibrosis pathophysiology. Lung. 2020;198(1):151–156. DOI:10.1007/s00408-019-00293-6
   PubMed Web of Science ®Google Scholar
• Ho L, Samways J, Porteous D, et al. Correlation between nasal potential difference measurements, genotype and clinical condition in patients with cystic fibrosis. Eur Respir J. 1997;10(9):2018–2022. DOI:10.1183/09031936.97.10092018
   PubMed Web of Science ®Google Scholar
• Simmonds NJ, D’souza L, Roughton M, et al. Cystic fibrosis and survival to 40 years: a study of cystic fibrosis transmembrane conductance regulator function.
   Google Scholar
• Goubau C, Wilschanski M, Skalická V, et al. Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis. Thorax. 2009;64(8):683–691. DOI:10.1136/thx.2008.104752
   PubMed Web of Science ®Google Scholar
• Sermet-Gaudelus I, Girodon E, Roussel D, et al. Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis. Thorax. 2010;65(6):539–544. DOI:10.1136/thx.2009.123422
   PubMed Web of Science ®Google Scholar
• Nguyen-Khoa T, Hatton A, Drummond D, et al. Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test. Eur Respir J. 2022;60(2):60. DOI:10.1183/13993003.00209-2022
   Web of Science ®Google Scholar
• Berschneider HM, Knowles MR, Azizkhan RG, et al. Altered intestinal chloride transport in cystic fibrosis. Faseb J. 1988;2(10):2625–2629. DOI:10.1096/fasebj.2.10.2838365
   PubMed Web of Science ®Google Scholar
• Bijman J, Veeze H, Kansen M, et al. Chloride transport in the cystic fibrosis enterocyte. Adv Exp Med Biol. 1991;290:287–296.
   PubMedGoogle Scholar
• Graeber SY, Hug MJ, Sommerburg O, et al. Intestinal current measurements detect activation of mutant CFTR in patients with cystic fibrosis with the G551D mutation treated with ivacaftor. Am J Respir Crit Care Med. 2015;192(10):1252–1255. DOI:10.1164/rccm.201507-1271LE
   PubMed Web of Science ®Google Scholar
• Graeber SY, Dopfer C, Naehrlich L, et al. Effects of lumacaftor–ivacaftor therapy on cystic fibrosis transmembrane conductance regulator function in phe508del homozygous patients with cystic fibrosis. Am J Respir Crit Care Med. 2018;197(11):1433–1442. DOI:10.1164/rccm.201710-1983OC
   PubMed Web of Science ®Google Scholar
• Masson A, Schneider-Futschik EK, Baatallah N, et al. Predictive factors for lumacaftor/ivacaftor clinical response. J Cystic Fibrosis. 2019;18(3):368–374. DOI:10.1016/j.jcf.2018.12.011
   PubMed Web of Science ®Google Scholar
• Veeze HJ, Sinaasaf’pel M, Bijman J, et al. Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis. Gastroenterology. 1991;101(2):398403. DOI:10.1016/0016-5085(91)90017-F
   Web of Science ®Google Scholar
• Mall M, Bleich M, Schürlein M, et al. Cholinergic ion secretion in human colon requires coactivation by cAMP. Am J Physiol Gastrointest Liver Physiol. 1998;275(6):275. DOI:10.1152/ajpgi.1998.275.6.G1274
   Web of Science ®Google Scholar
• van Barneveld A, Stanke F, Ballmann M, et al. Ex vivo biochemical analysis of CFTR in human rectal biopsies. Biochim Biophys Acta (BBA) - Mol Basis Dis. 2006;1762(4):393–397. DOI:10.1016/j.bbadis.2006.01.007
   PubMed Web of Science ®Google Scholar
• Clancy JP, Szczesniak RD, Ashlock MA, et al. Multicenter intestinal current measurements in rectal biopsies from CF and non-CF subjects to monitor CFTR function. PLoS ONE. 2013;8(9):e73905. DOI:10.1371/journal.pone.0073905
   PubMed Web of Science ®Google Scholar
• Högenauer C, Ana CAS, Porter JL, et al. Active intestinal chloride secretion in human carriers of cystic fibrosis mutations: an evaluation of the hypothesis that heterozygotes have subnormal active intestinal chloride secretion. Am J Hum Genet. 2000;67(6):1422–1427. DOI:10.1086/316911
   PubMed Web of Science ®Google Scholar
• Derichs N, Sanz J, von Kanel T, et al. Intestinal current measurement for diagnostic classification of patients with questionable cystic fibrosis: validation and reference data. Thorax. 2010;65(7):594–599. DOI:10.1136/thx.2009.125088
   PubMed Web of Science ®Google Scholar
• de Winter-De Groot KM, Janssens HM, van Uum RT, et al. Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function. Eur Respir J. Internet. 2018 [cited 2023 Mar 29]. ;523:1702529. 10.1183/13993003.02529-2017.
   PubMed Web of Science ®Google Scholar
• Veeze HJ, Sinaasappel M, Bijman J, et al. Ion transport abnormalities in rectal suction biopsies from children with cystic fibrosis. Gastroenterology. 1991;101(2):398–403. DOI:10.1016/0016-5085(91)90017-F
   PubMed Web of Science ®Google Scholar
• Mall M, Wissner A, Seydewitz HH, et al. Defective cholinergic Cl − secretion and detection of K + secretion in rectal biopsies from cystic fibrosis patients. Am J Physiol Gastrointest Liver Physiol. 2000;278(4):278. DOI:10.1152/ajpgi.2000.278.4.G617
   Web of Science ®Google Scholar
• Scheinert S, Pinders-Kessel L, Klosinski M, et al. 55 Reliability of intestinal current measurement as CFTR biomarker and responsiveness to oral ivacaftor treatment. J Cystic Fibrosis. 2013;12:S62.
   Google Scholar
• Hardcastle J, Hardcastle PT, Taylor CJ, et al. Failure of cholinergic stimulation to induce a secretory response from the rectal mucosa in cystic fibrosis. Gut. 1991;32(9):1035. DOI:10.1136/gut.32.9.1035
   PubMed Web of Science ®Google Scholar
• Taylor CJ, Baxter PS, Hardcastle J, et al. Failure to induce secretion in jejunal biopsies from children with cystic fibrosis. Gut. 1988;29(7):957. DOI:10.1136/gut.29.7.957
   PubMed Web of Science ®Google Scholar
• Sousa M, Servidoni MF, Vinagre AM, et al. Measurements of CFTR-mediated Cl− secretion in human rectal biopsies constitute a robust biomarker for cystic fibrosis diagnosis and prognosis. PLoS ONE. 2012;7(10):e47708. DOI:10.1371/journal.pone.0047708
   PubMed Web of Science ®Google Scholar
• Cohen-Cymberknoh M, Yaakov Y, Shoseyov D, et al. Evaluation of the intestinal current measurement method as a diagnostic test for cystic fibrosis. Pediatr Pulmonol. 2013;48(3):229–235. DOI:10.1002/ppul.22586
   PubMed Web of Science ®Google Scholar
• Taylor CJ, Hughes H, Hardcastle PT, et al. Genotype and secretory response in cystic fibrosis. Lancet. 1992;339(8784):67–68. DOI:10.1016/0140-6736(92)90201-D
   PubMed Web of Science ®Google Scholar
• Veeze HJ, Halley DJJ, Bijman J, et al. Determinants of mild clinical symptoms in cystic fibrosis patients. Residual chloride secretion measured in rectal biopsies in relation to the genotype. J Clin Invest. 1994;93(2):461–466. DOI:10.1172/JCI116993
   PubMed Web of Science ®Google Scholar
• Hirtz S, Gonska T, Seydewitz HH, et al. CFTR Cl− channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis. Gastroenterology. 2004;127(4):1085–1095. DOI:10.1053/j.gastro.2004.07.006
   PubMed Web of Science ®Google Scholar
• Graeber SY, van Mourik P, Vonk AM, et al. Comparison of organoid swelling and in vivo biomarkers of cftr function to determine effects of lumacaftor–ivacaftor in patients with cystic fibrosis homozygous for the f508del mutation. Am J Respir Crit Care Med. 2020;202(11):1589–1592. DOI:10.1164/rccm.202004-1200LE
   PubMed Web of Science ®Google Scholar
• Pagin A, Sermet-Gaudelus I, Burgel PR. Genetic diagnosis in practice: from cystic fibrosis to CFTR-related disorders. Archives de Pediatrie. 2020;27:eS25–29.
   PubMed Web of Science ®Google Scholar