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Over 2000 CFTR gene variants have been identified; these can result in variable CFTR protein function and, consequently, a diverse clinical phenotype. CF is not only diagnosed in children but also in adults and is present in non-White populations. In adults, CF often presents with an atypical phenotype, usually due to residual CFTR protein function, which can be caused by rare CFTR variants. As a result, diagnosing CF in adults can be challenging. In this review, we discuss who should be considered for CF, how and where the diagnosis is made, and why a timely CF diagnosis is important for all patients, as well as their families.<\/jats:p>","DOI":"10.31083\/bjhm54065","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T08:09:42Z","timestamp":1780128582000},"source":"Crossref","is-referenced-by-count":0,"title":["The Diagnostic Complexities of Cystic Fibrosis: When to Think of It and What to Do?"],"prefix":"10.31083","volume":"87","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8201-8567","authenticated-orcid":true,"given":"Ladina","family":"Weitnauer","sequence":"first","affiliation":[{"name":"Adult Cystic Fibrosis Centre, Royal Brompton and Harefield Hospitals, Guy\u2019s and St Thomas\u2019 NHS Foundation Trust, SW3 6NP London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1705-4780","authenticated-orcid":true,"given":"Nicholas J.","family":"Simmonds","sequence":"additional","affiliation":[{"name":"Adult Cystic Fibrosis Centre, Royal Brompton and Harefield Hospitals, Guy\u2019s and St Thomas\u2019 NHS Foundation Trust, SW3 6NP London, UK"},{"name":"National Heart and Lung Institute, Imperial College London, SW3 6LY London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"16242","published-online":{"date-parts":[[2026,5,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","unstructured":"Guo J, Garratt A, Hill A. 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