{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T00:53:45Z","timestamp":1790902425351,"version":"4.1.0"},"reference-count":37,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2011,7,1]],"date-time":"2011-07-01T00:00:00Z","timestamp":1309478400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2011,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives:<\/jats:title><jats:p>Autosomal recessive, congenital chloride diarrhea (CLD) is a form of persistent secretory diarrhea, presenting with polyhydramnios and intractable diarrhea from birth. CLD is caused by mutations in the SLC26A3 gene, encoding a Na<jats:sup>+<\/jats:sup>\u2010independent Cl<jats:sup>\u2212<\/jats:sup>\/HCO<jats:sub>3<\/jats:sub>\u2010 exchanger. The diagnosis is generally made on the basis of high fecal chloride concentration in patients with serum electrolyte homoeostasis corrected by salt substitution. We aimed to evaluate the role of diagnostic genetic testing in CLD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods:<\/jats:title><jats:p>Clinical and laboratory data were collected from 8 unrelated children diagnosed as having or suspected to have CLD. The evaluation included physical examination, routine clinical chemistry, and <jats:italic>SLC26A3<\/jats:italic> mutation analysis by direct sequencing of DNA extracted from buccal swabs or peripheral leukocytes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>CLD was initially diagnosed on high fecal chloride concentrations in 7 patients, and by mutation analysis in 1 patient. In 3 of these patients the correct diagnosis was made more than 6 months after birth. We identified <jats:italic>SLC26A3<\/jats:italic> mutations on both alleles in all 8 patients with CLD, including 3 novel missense and 4 novel truncating mutations. We present a compilation of reported <jats:italic>SLC26A3<\/jats:italic> mutations and polymorphisms.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>The diagnosis and therapy of CLD were considerably delayed in 3 of 8 patients from this series, highlighting the potential of misdiagnosing CLD. We add 7 novel mutations, including 3 missense changes of highly conserved residues to a total of 41 mutations in this gene.<\/jats:p><jats:p>Molecular analysis is efficient and should be considered as a means of early diagnosis of CLD, especially if the clinical diagnosis remains uncertain.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e31820bc856","type":"journal-article","created":{"date-parts":[[2011,6,21]],"date-time":"2011-06-21T06:48:18Z","timestamp":1308638898000},"page":"48-54","source":"Crossref","is-referenced-by-count":21,"title":["Significance of Molecular Testing for Congenital Chloride Diarrhea"],"prefix":"10.1002","volume":"53","author":[{"given":"Silvia","family":"Lechner","sequence":"first","affiliation":[{"name":"Division of Human Genetics Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank M","family":"Ruemmele","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris Descartes Facult\u00e9 Necker INSERM U989 Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Zankl","sequence":"additional","affiliation":[{"name":"Genetic Health Queensland Royal Brisbane and Women's Hospital Brisbane Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ekkehart","family":"Lausch","sequence":"additional","affiliation":[{"name":"Centre for Pediatric and Adolescent Medicine Freiburg University Hospital Freiburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolf\u2010Dietrich","family":"Huber","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter","family":"Mihatsch","sequence":"additional","affiliation":[{"name":"Deaconry Hospital Schwaebisch Hall Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan D","family":"Phillips","sequence":"additional","affiliation":[{"name":"Centre for Paediatric Gastroenterology UCL Medical School Royal Free Campus London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Lewindon","sequence":"additional","affiliation":[{"name":"Royal Children's Hospital Department of Gastroenterology Herston Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Querfeld","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology, Charit\u00e9 Berlin Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Heinz\u2010Erian","sequence":"additional","affiliation":[{"name":"Department of Pediatrics II Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"M\u00fcller","sequence":"additional","affiliation":[{"name":"Department of Pediatrics II Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas R","family":"Janecke","sequence":"additional","affiliation":[{"name":"Department of Pediatrics II Innsbruck Medical University Innsbruck Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,7]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2036.2009.04197.x"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108094"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e3181d135ef"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0b013e318174e818"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-316"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/301998"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1998)11:4<321::AID-HUMU10>3.0.CO;2-A"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1179"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10139"},{"key":"e_1_2_5_11_1","first-page":"362","article-title":"A novel mutation of the down\u2010regulated in adenoma gene in a Japanese case with congenital chloride diarrhea. 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