{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T18:52:46Z","timestamp":1783018366599,"version":"3.54.6"},"reference-count":8,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,21]],"date-time":"2022-12-21T00:00:00Z","timestamp":1671580800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Respirology Case Reports"],"published-print":{"date-parts":[[2023,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Diagnosis and management of CRMS\/CFSPID and cystic fibrosis (CF) with mild phenotypes remains challenging, and this extends to expanding practice with the use of CFTR modulators. We describe a case of an 18\u2010year\u2010old man with p.F508del\/p.Arg117His(7T) initially presenting with CRMS\/CFSPID. He went on to be diagnosed with pancreatic sufficient CF with minimal lung disease. However, he has had significant CFTR\u2010related symptoms with recurrent pancreatitis and chronic sinusitis. These non\u2010pulmonary symptoms resolved following introduction of the CFTR modulator ivacaftor. Care for those with mild CF phenotypes, CRMS\/CFSPID and those with CFTR\u2010RD must be individualized, and open dialogue, education and patient centred care is necessary to ascertaining which patients might benefit from management in a multidisciplinary CF clinic and treatment. There may be a role for expanding the use of CFTR modulators to include non\u2010pulmonary manifestations of CFTR dysfunction in some cases.<\/jats:p>","DOI":"10.1002\/rcr2.1079","type":"journal-article","created":{"date-parts":[[2022,12,22]],"date-time":"2022-12-22T05:00:35Z","timestamp":1671685235000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Non\u2010pulmonary <scp>CFTR<\/scp>\u2010related symptom improvement with ivacaftor in p.Phe508del\/p.<scp>Arg117His<\/scp> (<scp>7T<\/scp>) cystic fibrosis"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8691-7597","authenticated-orcid":false,"given":"Stephanie L.","family":"Kuek","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1008-0967","authenticated-orcid":false,"given":"R. John H.","family":"Massie","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine Royal Children's Hospital  Parkville Victoria Australia"},{"name":"Murdoch Children's Research Institute  Parkville Victoria Australia"},{"name":"Department of Paediatrics University of Melbourne  Parkville Victoria Australia"},{"name":"Children's Bioethics Centre Royal Children's Hospital  Parkville Victoria Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,12,21]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.09.064"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.01.00057001"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.25627"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.88.10.886"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S2213-2600(15)00201-5"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2020.11.006"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1569-1993(11)60014-3"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000001788"}],"container-title":["Respirology Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.1079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/rcr2.1079","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/rcr2.1079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:29:27Z","timestamp":1692577767000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/rcr2.1079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,21]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2023,1]]}},"alternative-id":["10.1002\/rcr2.1079"],"URL":"https:\/\/doi.org\/10.1002\/rcr2.1079","archive":["Portico"],"relation":{},"ISSN":["2051-3380","2051-3380"],"issn-type":[{"value":"2051-3380","type":"print"},{"value":"2051-3380","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,21]]},"assertion":[{"value":"2022-06-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-07","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-12-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e01079"}}