{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T13:11:39Z","timestamp":1790255499581,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"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":[[2021,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Cystic fibrosis transmembrane conductance regulator (CFTR) gating mutations (GMs) result in CFTR that is present at the cell surface but nonfunctional. Patients with the\n                      <jats:italic>G551D<\/jats:italic>\n                      mutation, the most prevalent worldwide, have been well studied. Italian GM patients have mainly non\u2010G551D mutations. We studied their epidemiology and clinical characteristics in the period spanning the pre\/post ivacaftor introduction to the Italian market.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      Data from the Italian CF Registry were used to describe patients with GMs and compare them with\n                      <jats:italic>F508del<\/jats:italic>\n                      homozygous (\n                      <jats:italic>F<\/jats:italic>\n                      \/\n                      <jats:italic>F<\/jats:italic>\n                      ) patients.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In total, 186 patients with GMs (median [range] age, 21.96 [0.13\u201363.38] years) were identified among the 5552 patients included in the study (3.3%). They had lower sweat chloride values at diagnosis than the\n                      <jats:italic>F<\/jats:italic>\n                      \/\n                      <jats:italic>F<\/jats:italic>\n                      and a lower ratio of males. In the GM group, examining the data of the years 2012 and 2017 and comparing with\n                      <jats:italic>F<\/jats:italic>\n                      \/\n                      <jats:italic>F<\/jats:italic>\n                      , lung infection by\n                      <jats:italic>Staphylococcus aureus<\/jats:italic>\n                      and diabetes became less prevalent, and better FEV\n                      <jats:sub>1<\/jats:sub>\n                      and nutritional status were observed in 2017. The cross\u2010sectional evaluation year\u2010by\u2010year from 2012 to 2017 of the GM group showed improving trends in lung function and body mass index, and the decreasing prevalence of diabetes compared with\n                      <jats:italic>F<\/jats:italic>\n                      \/\n                      <jats:italic>F<\/jats:italic>\n                      . Longitudinal evaluation of GM patients showed improvement in percent predicted (pp)FEV\n                      <jats:sub>1<\/jats:sub>\n                      and nutrition in the 2012\u20132017 period. These variations correspond to the introduction of treatment with the CFTR potentiator ivacaftor (2014\/2015).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      Italian patients with GMs are few and are characterized by milder phenotypes than\n                      <jats:italic>F<\/jats:italic>\n                      \/\n                      <jats:italic>F<\/jats:italic>\n                      patients. Improved outcomes are likely influenced by treatment with ivacaftor.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.25179","type":"journal-article","created":{"date-parts":[[2020,11,21]],"date-time":"2020-11-21T04:28:52Z","timestamp":1605932932000},"page":"442-449","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Cystic fibrosis with non\u2010G551D gating mutations in Italy: Epidemiology and clinical characteristics"],"prefix":"10.1002","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2432-415X","authenticated-orcid":false,"given":"Donatello","family":"Salvatore","sequence":"first","affiliation":[{"name":"Cystic Fibrosis Centre Hospital San Carlo  Potenza Italy"},{"name":"Italian Cystic Fibrosis Registry  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Carnovale","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Cystic Fibrosis Centre, Adult Unit, Department of Translational Medical Science University \u201cFederico II\u201d  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Majo","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Cystic Fibrosis Centre, Bambino Ges\u00f9 Children's Hospital IRCCS  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0624-8125","authenticated-orcid":false,"given":"Rita","family":"Padoan","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Cystic Fibrosis Regional Support Centre, Department of Pediatrics University of Brescia, ASST Spedali Civili Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Salvatore","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Undiagnosed Rare Diseases Unit, National Centre for Rare Diseases Istituto Superiore di Sanit\u00e0  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenica","family":"Taruscio","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Undiagnosed Rare Diseases Unit, National Centre for Rare Diseases Istituto Superiore di Sanit\u00e0  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Amato","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Lega Italiana Fibrosi Cistica  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Ferrari","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Undiagnosed Rare Diseases Unit, National Centre for Rare Diseases Istituto Superiore di Sanit\u00e0  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Campagna","sequence":"additional","affiliation":[{"name":"Italian Cystic Fibrosis Registry  Rome Italy"},{"name":"Lega Italiana Fibrosi Cistica  Rome Italy"},{"name":"Department of Clinical and Molecular Medicine University of Rome \u201cLa Sapienza\u201d  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,11,27]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1113\/jphysiol.2009.171595"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3928\/19382359-20190327-01"},{"key":"e_1_2_9_4_1","volume-title":"Cystic Fibrosis Mutation Database (CFTR1)"},{"key":"e_1_2_9_5_1","volume-title":"Clinical and functional translation of CFTR","author":"CFTR2.org"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1091\/mbc.e14-04-0935"},{"key":"e_1_2_9_7_1","unstructured":"Cystic Fibrosis Foundation Patient Registry. 2018 Annual Data Report Bethesda Maryland;2019. 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