{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T19:12:14Z","timestamp":1787857934950,"version":"build-2784847793"},"reference-count":33,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,7,21]],"date-time":"2019-07-21T00:00:00Z","timestamp":1563667200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Infants that are negative to cystic fibrosis (CF) newborn screening (NBS) programs, or in countries without NBS, may present with metabolic alkalosis and severe salt depletion, a well\u2010known clinical manifestation of CF termed Pseudo\u2010Bartter syndrome (PBS). Here, we report the cases of three CF\u2010negative children, who carry rare mutations in the CF transmembrane conductance regulator (CFTR) gene, and, for whom, PBS was the only manifestation of CFTR protein dysfunction. There is no diagnostic label for these cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Medical records of patients followed at our Cystic Fibrosis Centre were revised and data were collected for all patients who presented with an isolated PBS. The syndrome was defined as an episode of dehydration with low levels of serum sodium (<jats:styled-content>&lt;<\/jats:styled-content>134mmol\/L), potassium (\n<jats:styled-content>&lt;<\/jats:styled-content>3.4mmol\/L), and chloride (\n<jats:styled-content>&lt;<\/jats:styled-content>100mmol\/L), with metabolic alkalosis (bicarbonatemia &gt;27mmol\/L) in the absence of renal tubulopathy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three out of 73 (4%) CF infants presented with a severe metabolic alkalosis with salt depletion; two of these required admission to the intensive care unit. Two infants had a negative NBS, and one was identified as a CF carrier. Sweat test was repeatedly in the negative\/borderline ranges for all patients. Less than two CF causing mutations were identified (F508del\/R1070W, F508del; L467F\/P5L, R1066H\/P5L). During a mean follow\u2010up of 9 years, the children had no other CF manifestations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We suggest that PBS as the sole manifestation of CFTR dysfunction might be considered a CFTR\u2010related disorder of infancy.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.24433","type":"journal-article","created":{"date-parts":[[2019,7,22]],"date-time":"2019-07-22T05:34:41Z","timestamp":1563773681000},"page":"1578-1583","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Should isolated Pseudo\u2010Bartter syndrome be considered a CFTR\u2010related disorder of infancy?"],"prefix":"10.1002","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6417-4216","authenticated-orcid":false,"given":"Piercarlo","family":"Poli","sequence":"first","affiliation":[{"name":"Department of Pediatrics Regional support Centre for Cystic Fibrosis Children's Hospital \u2013 ASST Spedali Civili University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Domenico Umberto","family":"De Rose","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Regional support Centre for Cystic Fibrosis Children's Hospital \u2013 ASST Spedali Civili University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silviana","family":"Timpano","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Regional support Centre for Cystic Fibrosis Children's Hospital \u2013 ASST Spedali Civili University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianfranco","family":"Savoldi","sequence":"additional","affiliation":[{"name":"Department of Pathology Laboratory of Genetic Disorders of Childhood \u201cA. Nocivelli\u201d ASST Spedali Civili  Brescia 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":"Department of Pediatrics Regional support Centre for Cystic Fibrosis Children's Hospital \u2013 ASST Spedali Civili University of Brescia  Brescia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,7,21]]},"reference":[{"key":"e_1_2_10_1_2_1","doi-asserted-by":"publisher","DOI":"10.2223\/JPED.489"},{"key":"e_1_2_10_1_3_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200403-381WS"},{"key":"e_1_2_10_1_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12967-017-1193-9"},{"key":"e_1_2_10_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2016.09.064"},{"key":"e_1_2_10_1_6_1","unstructured":"Cystic Fibrosis Mutation Database. Available at:http:\/\/www.genet.sickkids.on.ca\/app"},{"key":"e_1_2_10_1_7_1","unstructured":"Welcome to CFTR2 | CFTR2. 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