{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T02:30:10Z","timestamp":1791945010714,"version":"4.3.4"},"reference-count":46,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,2,1]],"date-time":"2017-02-01T00:00:00Z","timestamp":1485907200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":["clinicalkey.jp","clinicalkey.com","clinicalkey.es","clinicalkey.com.au","clinicalkey.fr","jpeds.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pediatrics"],"published-print":{"date-parts":[[2017,2]]},"DOI":"10.1016\/j.jpeds.2016.09.068","type":"journal-article","created":{"date-parts":[[2017,1,24]],"date-time":"2017-01-24T05:15:49Z","timestamp":1485234949000},"page":"S52-S57.e2","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":56,"special_numbering":"S","title":["Diagnosis of Cystic Fibrosis in Nonscreened Populations"],"prefix":"10.1016","volume":"181","author":[{"given":"Patrick R.","family":"Sosnay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry B.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip M.","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clement L.","family":"Ren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nico","family":"Derichs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michelle S.","family":"Howenstine","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry A.","family":"Nick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kris","family":"De Boeck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpeds.2016.09.068_bib0010","doi-asserted-by":"crossref","first-page":"344","DOI":"10.1001\/archpedi.1938.01980140114013","article-title":"Cystic fibrosis of the pancreas and its relation to celiac disease: a clinical and pathological study","volume":"56","author":"Andersen","year":"1938","journal-title":"Am J Child"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0015","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1001\/jama.1962.03050270033006","article-title":"Pancreatic cystic fibrosis in an adult","volume":"181","author":"Cece","year":"1962","journal-title":"JAMA"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0020","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/S0007-0971(65)80008-0","article-title":"A case of mucoviscidosis in an adult","volume":"59","author":"Anderson","year":"1965","journal-title":"Br J Dis Chest"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0025","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1378\/chest.57.1.28","article-title":"Cystic fibrosis in young adults: an overlooked diagnosis, with emphasis on pulmonary function and radiological patterns","volume":"57","author":"Tomashefski","year":"1970","journal-title":"Chest"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0030","doi-asserted-by":"crossref","first-page":"1073","DOI":"10.1126\/science.2570460","article-title":"Identification of the cystic fibrosis gene: genetic analysis","volume":"245","author":"Kerem","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0035","doi-asserted-by":"crossref","first-page":"1059","DOI":"10.1126\/science.2772657","article-title":"Identification of the cystic fibrosis gene: chromosome walking and jumping","volume":"245","author":"Rommens","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0040","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1126\/science.2475911","article-title":"Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA","volume":"245","author":"Riordan","year":"1989","journal-title":"Science"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0045","doi-asserted-by":"crossref","first-page":"1160","DOI":"10.1038\/ng.2745","article-title":"Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene","volume":"45","author":"Sosnay","year":"2013","journal-title":"Nat Genet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0050","doi-asserted-by":"crossref","first-page":"8382","DOI":"10.1038\/ncomms9382","article-title":"Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis","volume":"6","author":"Corvol","year":"2015","journal-title":"Nat Commun"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0055","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1002\/humu.10041","article-title":"Cystic fibrosis: a worldwide analysis of CFTR mutations\u2013correlation with incidence data and application to screening","volume":"19","author":"Bobadilla","year":"2002","journal-title":"Hum Mutat"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0060","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.ccm.2015.11.006","article-title":"Diagnosis of adult patients with cystic fibrosis","volume":"37","author":"Nick","year":"2016","journal-title":"Clin Chest Med"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0065","series-title":"Cystic Fibrosis Foundation Patient Registry 2014 Annual Data Report","author":"Cystic Fibrosis Foundation","year":"2015"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0070","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1016\/S0022-3476(98)70344-0","article-title":"The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel","volume":"132","author":"Rosenstein","year":"1998","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0075","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1016\/j.jpeds.2016.09.064","article-title":"Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation","volume":"181S","author":"Farrell","year":"2017","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0080","doi-asserted-by":"crossref","first-page":"S27","DOI":"10.1016\/j.jpeds.2016.09.063","article-title":"Applying cystic fibrosis transmembrane conductance regulator genetics and CFTR2 data to facilitate diagnoses","volume":"181S","author":"Sosnay","year":"2017","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0085","doi-asserted-by":"crossref","first-page":"S33","DOI":"10.1016\/j.jpeds.2016.09.065","article-title":"Diagnosis of cystic fibrosis in screened populations","volume":"181S","author":"Farrell","year":"2017","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0090","doi-asserted-by":"crossref","first-page":"S16","DOI":"10.1016\/j.jpeds.2016.09.067","article-title":"Cystic fibrosis diagnostic challenges over 4 decades: historical perspectives and lessons learned","volume":"181S","author":"Farrell","year":"2017","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0095","doi-asserted-by":"crossref","first-page":"S45","DOI":"10.1016\/j.jpeds.2016.09.066","article-title":"Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome and cystic fibrosis screen positive, inconclusive diagnosis","volume":"181S","author":"Ren","year":"2017","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0100","doi-asserted-by":"crossref","first-page":"S4","DOI":"10.1016\/j.jpeds.2008.05.005","article-title":"Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report","volume":"153","author":"Farrell","year":"2008","journal-title":"J Pediatr"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0105","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1136\/thx.2008.104752","article-title":"Phenotypic characterisation of patients with intermediate sweat chloride values: towards validation of the European diagnostic algorithm for cystic fibrosis","volume":"64","author":"Goubau","year":"2009","journal-title":"Thorax"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0110","doi-asserted-by":"crossref","first-page":"627","DOI":"10.1136\/thx.2005.043539","article-title":"Cystic fibrosis: terminology and diagnostic algorithms","volume":"61","author":"De Boeck","year":"2006","journal-title":"Thorax"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0115","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1164\/rccm.200403-404OC","article-title":"Late diagnosis defines a unique population of long-term survivors of cystic fibrosis","volume":"171","author":"Rodman","year":"2005","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0120","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1164\/rccm.200207-678OC","article-title":"Nontuberculous mycobacteria. I: multicenter prevalence study in cystic fibrosis","volume":"167","author":"Olivier","year":"2003","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0125","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ccm.2014.11.003","article-title":"Nontuberculous mycobacterial infections in cystic fibrosis","volume":"36","author":"Martiniano","year":"2015","journal-title":"Clin Chest Med"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0130","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0140-6736(93)91885-P","article-title":"Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10\u2009kb C\u2192T mutation","volume":"342","author":"Augarten","year":"1993","journal-title":"Lancet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0135","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1111\/j.1399-0004.2005.00459.x","article-title":"A CFTR mutation (D1152H) in a family with mild lung disease and normal sweat chlorides","volume":"68","author":"Highsmith","year":"2005","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0140","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1164\/rccm.201603-0459OC","article-title":"Sources of variation in sweat chloride measurements in cystic fibrosis","volume":"194","author":"Collaco","year":"2016","journal-title":"Am J Respir Crit Care Med"},{"issue":"Suppl 2","key":"10.1016\/j.jpeds.2016.09.068_bib0145","doi-asserted-by":"crossref","first-page":"S86","DOI":"10.1016\/S1569-1993(11)60014-3","article-title":"Recommendations for the classification of diseases as CFTR-related disorders","volume":"10","author":"Bombieri","year":"2011","journal-title":"J Cyst Fibros"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0150","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1159\/000484750","article-title":"CFTR gene mutations in adults with disseminated bronchiectasis","volume":"5","author":"Girodon","year":"1997","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0155","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1007\/s004390050897","article-title":"Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease","volume":"103","author":"Bombieri","year":"1998","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0160","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1007\/s004390100467","article-title":"CFTR gene mutations\u2013including three novel nucleotide substitutions\u2013and haplotype background in patients with asthma, disseminated bronchiectasis and chronic obstructive pulmonary disease","volume":"108","author":"Tzetis","year":"2001","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0165","first-page":"85","article-title":"CFTR mutations and polymorphisms in adults with disseminated bronchiectasis: a controversial issue","volume":"60","author":"Divac","year":"2005","journal-title":"Thorax"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0170","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1378\/chest.130.4.995","article-title":"Prospective analysis of cystic fibrosis transmembrane regulator mutations in adults with bronchiectasis or pulmonary nontuberculous mycobacterial infection","volume":"130","author":"Ziedalski","year":"2006","journal-title":"Chest"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0175","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1056\/NEJM199506013322204","article-title":"Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens","volume":"332","author":"Chill\u00f3n","year":"1995","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0180","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1093\/molehr\/2.9.669","article-title":"Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens","volume":"2","author":"De Braekeleer","year":"1996","journal-title":"Mol Hum Reprod"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0185","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1365-2605.2004.00485.x","article-title":"CFTR mutations and polymorphisms in male infertility","volume":"27","author":"Cuppens","year":"2004","journal-title":"Int J Androl"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0190","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1016\/S1472-6483(10)60801-2","article-title":"Molecular pathology of the CFTR locus in male infertility","volume":"10","author":"Claustres","year":"2005","journal-title":"Reprod Biomed Online"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0195","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1001\/archotol.131.3.237","article-title":"Increased prevalence of chronic rhinosinusitis in carriers of a cystic fibrosis mutation","volume":"131","author":"Wang","year":"2005","journal-title":"Arch Otolaryngol Head Neck Surg"},{"issue":"4 Suppl 2","key":"10.1016\/j.jpeds.2016.09.068_bib0200","doi-asserted-by":"crossref","first-page":"S70","DOI":"10.1097\/01.mcg.0000155522.89005.bf","article-title":"Reduced CFTR function and the pathobiology of idiopathic pancreatitis","volume":"39","author":"Cohn","year":"2005","journal-title":"J Clin Gastroenterol"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0205","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1007\/s00439-005-0059-z","article-title":"The cystic fibrosis transmembrane conductance regulator gene and ion channel function in patients with idiopathic pancreatitis","volume":"118","author":"Bishop","year":"2005","journal-title":"Hum Genet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0210","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/nrg3849","article-title":"Cystic fibrosis genetics: from molecular understanding to clinical application","volume":"16","author":"Cutting","year":"2015","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0215","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1378\/chest.09-1352","article-title":"Classic respiratory disease but atypical diagnostic testing distinguishes adult presentation of cystic fibrosis","volume":"137","author":"Keating","year":"2010","journal-title":"Chest"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0220","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1164\/rccm.201001-0092OC","article-title":"Effects of gender and age at diagnosis on disease progression in long-term survivors of cystic fibrosis","volume":"182","author":"Nick","year":"2010","journal-title":"Am J Respir Crit Care Med"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0225","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/gim.2015.79","article-title":"Prevalence of meconium ileus marks the severity of mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene","volume":"18","author":"Dupuis","year":"2016","journal-title":"Genet Med"},{"key":"10.1016\/j.jpeds.2016.09.068_bib0230","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0155624","article-title":"Benign and deleterious cystic fibrosis transmembrane conductance regulator mutations identified by sequencing in positive cystic fibrosis newborn screen children from California","volume":"11","author":"Salinas","year":"2016","journal-title":"PLoS ONE"},{"issue":"Suppl 3","key":"10.1016\/j.jpeds.2016.09.068_bib0235","doi-asserted-by":"crossref","first-page":"S21","DOI":"10.1016\/j.jpeds.2005.08.011","article-title":"Delayed diagnosis of cystic fibrosis and the family perspective","volume":"147","author":"Kharrazi","year":"2005","journal-title":"J Pediatr"}],"container-title":["The Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347616310526?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022347616310526?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2020,9,30]],"date-time":"2020-09-30T04:09:51Z","timestamp":1601438991000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022347616310526"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,2]]},"references-count":46,"alternative-id":["S0022347616310526"],"URL":"https:\/\/doi.org\/10.1016\/j.jpeds.2016.09.068","relation":{},"ISSN":["0022-3476"],"issn-type":[{"value":"0022-3476","type":"print"}],"subject":[],"published":{"date-parts":[[2017,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis of Cystic Fibrosis in Nonscreened Populations","name":"articletitle","label":"Article Title"},{"value":"The Journal of Pediatrics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jpeds.2016.09.068","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2016 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}