{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T19:12:16Z","timestamp":1787857936252,"version":"build-2784847793"},"reference-count":31,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2020,8,13]],"date-time":"2020-08-13T00:00:00Z","timestamp":1597276800000},"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":[[2020,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To characterize the clinical and genotypic features of cystic fibrosis\u2010associated pseudo\u2010Bartter syndrome (CF\u2010PBS) in Chinese children.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We recruited and characterized the clinical manifestations of 12 Chinese children with CF\u2010PBS. Sweat test, blood and urinary analysis, sputum culture, chest and sinus computed tomography, and abdominal ultrasonography were obtained. Whole\u2010exome sequencing, bioinformatics analysis, and Sanger sequencing validation were performed to define the genotypes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>CF\u2010PBS was accompanied by recurrent and\/or persistent pneumonia (91.7%), pancreatitis (83.3%), vomiting and\/or diarrhea (66.7%), failure to thrive and liver disease (58.3% respectively), among our patients. The predominant organisms found in the airways were <jats:italic>Pseudomonas aeruginosa<\/jats:italic> (83.3%) and <jats:italic>Staphylococcus aureus<\/jats:italic> (75.0%). The mean concentrations of blood gas and electrolytes were pH 7.58, bicarbonate 40.8\u2009mmol\/L, sodium 125.9\u2009mmol\/L, chloride 77.5\u2009mmol\/L, and potassium 2.6\u2009mmol\/L. A high recurrence rate (50.0%) of CF\u2010PBS was observed despite continued electrolyte supplementation during follow\u2010up. In all, 19 different variants of <jats:italic>CFTR<\/jats:italic> gene were identified, and 10 of these were found to be novel observations (c.262_266delTTATA[p.L88FfsX21], c.579+2insACAT, c.1210\u20103C&gt;G, c.1733T&gt;C[p.L578P], c.2236_2246delGAGGCGATACTinsAAAAATC[p.E746KfsX8], c.3068T&gt;G [p.I1023R], c.3635delT[p.V1212AfsX16], c.3859delG[p.G1287EfsX2], c.3964\u20107A&gt;G and \u0394E23 [c.3718\u2010?_3873+?del]). The c.2909G&gt;A[p.G970D] was the most common variant, with an allele frequency of 16.6%. A homozygous genotype of c.1521_1523delCTT[p.F508del] was discovered for the first time in patients of Chinese origin.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In China, CF\u2010PBS usually presents early and recurs frequently in infancy, accompanied by multiple comorbidities. Recurrence of CF\u2010PBS in school\u2010going patients does occur but is rare. The p.G970D is the most frequent variant, with a significant ethnic tendency of Chinese origin.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.25012","type":"journal-article","created":{"date-parts":[[2020,8,7]],"date-time":"2020-08-07T00:24:27Z","timestamp":1596759867000},"page":"3021-3029","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Pseudo\u2010Bartter syndrome in Chinese children with cystic fibrosis: Clinical features and genotypic findings"],"prefix":"10.1002","volume":"55","author":[{"given":"Yuelin","family":"Shen","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine, Beijing Children's Hospital, National Center for Children's Health Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolei","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine, Beijing Children's Hospital, National 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