{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T16:10:05Z","timestamp":1771431005234,"version":"3.50.1"},"reference-count":20,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T00:00:00Z","timestamp":1736208000000},"content-version":"vor","delay-in-days":6,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2025,1]]},"abstract":"ABSTRACT<\/jats:title>\n \n Introduction<\/jats:title>\n While the diagnosis of cystic fibrosis (CF) is often straightforward and reliant on correlation between genetic testing and clinical signs and symptoms, there is a subset where the distinction is not nearly as clearcut. This has previously been reported in patients identified through newborn screening but not meeting full CF diagnostic criteria, earning the label of CF Screen Positive, Inconclusive Diagnosis (CFSPID) instead. A homologous diagnostic category in adults is named CF Transmembrane Conductance Regulator\u2010Related Disorder (CFTR\u2010RD).<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Through a retrospective chart review, this study reports on a relatively large adult cohort (\n n<\/jats:italic>\n \u2009=\u200923) that presented to pulmonology clinic at a single center with intermediate or positive sweat chloride tests but non\u2010diagnostic full\n CFTR<\/jats:italic>\n gene analysis.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Median sweat chloride result was 48\u2009mmol\/L, and a majority of the cohort had chronic lung disease with atypical pathogens on sputum culture, including Pseudomonas aeruginosa, non\u2010tuberculous Mycobacteria, Acinetobacter species, amongst others.<\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n This clinical picture suggests\n CFTR<\/jats:italic>\n dysfunction or similar mechanism in the absence of an identified genetic cause. Alternate chloride channels and their respective genes or candidates of genetic modifiers to the CF\u2010phenotype could be targets of further research in this cohort or similar patients. Such genetic modifiers include loci that have been implicated in inflammation, the\n CFTR<\/jats:italic>\n interactome, and\/or co\u2010\/post\u2010translational modification of CFTR.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/ppul.27471","type":"journal-article","created":{"date-parts":[[2025,1,7]],"date-time":"2025-01-07T08:24:22Z","timestamp":1736238262000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Reconsidering the Diagnosis: Abnormal Sweat Chloride Tests in Non\u2010CF Bronchiectasis"],"prefix":"10.1002","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5156-7694","authenticated-orcid":false,"given":"Reyna L.","family":"Huang","sequence":"first","affiliation":[{"name":"School of Medicine University of Virginia Charlottesville Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew T.","family":"Snyder","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Genetics University of Virginia Charlottesville Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuzhat","family":"Fahmida","sequence":"additional","affiliation":[{"name":"College of Arts and Sciences University of Virginia Charlottesville Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dana P.","family":"Albon","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Division of Pulmonary and Critical Care University of Virginia Charlottesville Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2020.11.006"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2021.06.012"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0042-1759881"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2024.01.012"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms9382"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm10245821"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S18675"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.838"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI33754"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn123"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.21372"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0140-2"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200403-404OC"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.chest.2016.10.055"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(23)00093-0"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.04.067"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1089\/ped.2015.0552"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1476-5381.2009.00503_6.x"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajplung.00431.2015"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2021.103660"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.27471","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ppul.27471","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.27471","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,18]],"date-time":"2026-02-18T15:30:16Z","timestamp":1771428616000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.27471"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":20,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/ppul.27471"],"URL":"https:\/\/doi.org\/10.1002\/ppul.27471","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-05-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-12-23","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-07","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e27471"}}