{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T16:25:02Z","timestamp":1784823902735,"version":"3.55.0"},"reference-count":25,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T00:00:00Z","timestamp":1714780800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T00:00:00Z","timestamp":1714780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>Congenital chloride diarrhoea (CCD) is an autosomal recessive condition that causes secretory diarrhoea and potentially deadly electrolyte imbalances in infants because of solute carrier family 26 member 3 (<jats:italic>SLC26A3<\/jats:italic>) gene mutations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 7-month-old Chinese infant with a history of maternal polyhydramnios presented with frequent watery diarrhoea, severe dehydration, hypokalaemia, hyponatraemia, failure to thrive, metabolic alkalosis, hyperreninaemia, and hyperaldosteronaemia. Genetic testing revealed a compound heterozygous <jats:italic>SLC26A3<\/jats:italic> gene mutation in this patient (c.269_270dup and c.2006\u00a0C\u2009&gt;\u2009A). Therapy was administered in the form of oral sodium and potassium chloride supplements, which decreased stool frequency.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>CCD should be considered when an infant presents with prolonged diarrhoea during infancy, particularly in the context of maternal polyhydramnios and dilated foetal bowel loops.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-024-04788-x","type":"journal-article","created":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T08:01:49Z","timestamp":1714809709000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Congenital chloride diarrhoea in a Chinese infant with a compound heterozygous SLC26A3 mutation"],"prefix":"10.1186","volume":"24","author":[{"given":"Qian","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruixian","family":"Zang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lichun","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhenle","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shuzhen","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,5,4]]},"reference":[{"issue":"1","key":"4788_CR1","doi-asserted-by":"publisher","first-page":"e166","DOI":"10.1097\/PG9.0000000000000166","volume":"3","author":"RE Sanchez","year":"2022","unstructured":"Sanchez RE, Erdman SH, Hill ID. Delayed diagnosis in a male with congenital Chloride Losing Diarrhea. JPGN Rep. 2022;3(1):e166. https:\/\/doi.org\/10.1097\/PG9.0000000000000166","journal-title":"JPGN Rep"},{"key":"4788_CR2","doi-asserted-by":"publisher","first-page":"758006","DOI":"10.3389\/fped.2021.758006","volume":"9","author":"I Cendal","year":"2021","unstructured":"Cendal I, Szafra\u0144ska A, Fuchs T, Patkowski D, Smigiel R, Kr\u00f3lak-Olejnik B. Prenatal and postnatal manifestations of congenital Chloride Diarrhea due to a heterozygote variant of the SLC26A3 gene: a Case Report. Front Pediatr. 2021;9:758006. https:\/\/doi.org\/10.3389\/fped.2021.758006","journal-title":"Front Pediatr"},{"key":"4788_CR3","doi-asserted-by":"publisher","first-page":"153","DOI":"10.2147\/PHMT.S220725","volume":"10","author":"E Valavi","year":"2019","unstructured":"Valavi E, Javaherizadeh H, Hakimzadeh M, Amoori P. Improvement of congenital Chloride Diarrhea with corticosteroids: an Incidental Finding. Pediatr Health Med Ther. 2019;10:153\u20136. https:\/\/doi.org\/10.2147\/PHMT.S220725","journal-title":"Pediatr Health Med Ther"},{"key":"4788_CR4","doi-asserted-by":"publisher","first-page":"715","DOI":"10.1002\/humu.21498","volume":"32","author":"S Wedenoja","year":"2011","unstructured":"Wedenoja S, Pekansaari E, Hoglund P, Makela S, Holmberg C, Kere J. Update on SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2011;32:715\u201322. https:\/\/doi.org\/10.1002\/humu.21498","journal-title":"Hum Mutat"},{"issue":"11","key":"4788_CR5","doi-asserted-by":"publisher","first-page":"e1505","DOI":"10.1002\/mgg3.1505","volume":"8","author":"KI Konishi","year":"2020","unstructured":"Konishi KI, Mizuochi T, Honma H, Etani Y, Morikawa K, Wada K, Yamamoto K. A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate. Mol Genet Genomic Med. 2020;8(11):e1505. https:\/\/doi.org\/10.1002\/mgg3.1505","journal-title":"Mol Genet Genomic Med"},{"issue":"9","key":"4788_CR6","doi-asserted-by":"publisher","first-page":"894","DOI":"10.3969\/j.issn.1000-3606.2010.09.027","volume":"28","author":"HW Zhang","year":"2010","unstructured":"Zhang HW. Congenital chloride diarrhea. J Clin Pediatr. 2010;28(9):894\u20136. https:\/\/doi.org\/10.3969\/j.issn.1000-3606.2010.09.027","journal-title":"J Clin Pediatr"},{"key":"4788_CR7","doi-asserted-by":"publisher","first-page":"151","DOI":"10.1016\/j.jpeds.2019.07.039","volume":"214","author":"KI Konishi","year":"2019","unstructured":"Konishi KI, Mizuochi T, Yanagi T, Watanabe Y, Ohkubo K, Ohga S, Maruyama H, Takeuchi I, Sekine Y, Masuda K, Kikuchi N, Yotsumoto Y, Ohtsuka Y, Tanaka H, Kudo T, Noguchi A, Fuwa K, Mushiake S, Ida S, Fujishiro J, Yamashita Y, Taguchi T, Yamamoto K. Clinical features, Molecular Genetics, and long-term outcome in congenital Chloride Diarrhea: a nationwide study in Japan. J Pediatr. 2019;214:151\u2013e1576. https:\/\/doi.org\/10.1016\/j.jpeds.2019.07.039","journal-title":"J Pediatr"},{"issue":"4","key":"4788_CR8","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1007\/s00431-012-1905-3","volume":"172","author":"J Hong","year":"2013","unstructured":"Hong J, Seo JK, Ko JS, Cheong HI, Choi JH, Lee JH, Seo JW. Congenital chloride diarrhea in Korean children: novel mutations and genetic characteristics. Eur J Pediatr. 2013;172(4):545\u201350. https:\/\/doi.org\/10.1007\/s00431-012-1905-3","journal-title":"Eur J Pediatr"},{"issue":"14","key":"4788_CR9","doi-asserted-by":"publisher","first-page":"e121370","DOI":"10.1172\/jci.insight.121370","volume":"3","author":"PM Haggie","year":"2018","unstructured":"Haggie PM, Cil O, Lee S, Tan JA, Rivera AA, Phuan PW, Verkman AS. SLC26A3 inhibitor identified in small molecule screen blocks colonic fluid absorption and reduces constipation. JCI Insight. 2018;3(14):e121370. https:\/\/doi.org\/10.1172\/jci.insight.121370","journal-title":"JCI Insight"},{"issue":"22","key":"4788_CR10","doi-asserted-by":"publisher","first-page":"e15928","DOI":"10.1097\/MD.0000000000015928","volume":"98","author":"NM .Kamal","year":"2019","unstructured":".Kamal NM, Khan HY, El-Shabrawi MHF, Sherief LM. Congenital chloride losing diarrhea: a single center experience in a highly consanguineous population. Med (Baltim). 2019;98(22):e15928. https:\/\/doi.org\/10.1097\/MD.0000000000015928","journal-title":"Med (Baltim)"},{"issue":"8","key":"4788_CR11","doi-asserted-by":"publisher","first-page":"887","DOI":"10.1038\/s10038-018-0470-7","volume":"63","author":"N Matsunoshita","year":"2018","unstructured":"Matsunoshita N, Nozu K, Yoshikane M, Kawaguchi A, Fujita N, Morisada N, Ishimori S, Yamamura T, Minamikawa S, Horinouchi T, Nakanishi K, Fujimura J, Ninchoji T, Morioka I, Nagase H, Taniguchi-Ikeda M, Kaito H, Iijima K. Congenital chloride diarrhea needs to be distinguished from Bartter and Gitelman syndrome. J Hum Genet. 2018;63(8):887\u201392. https:\/\/doi.org\/10.1038\/s10038-018-0470-7","journal-title":"J Hum Genet"},{"key":"4788_CR12","doi-asserted-by":"publisher","unstructured":"Kijmassuwan T, Balouch F. Approach to Congenital Diarrhea and enteropathies (CODEs). Indian J Pediatr. 2023 Dec;18. https:\/\/doi.org\/10.1007\/s12098-023-04929-7","DOI":"10.1007\/s12098-023-04929-7"},{"issue":"1","key":"4788_CR13","doi-asserted-by":"publisher","first-page":"23","DOI":"10.1038\/s41390-020-01251-2","volume":"90","author":"L Di Meglio","year":"2021","unstructured":"Di Meglio L, Castaldo G, Mosca C, Paonessa A, Gelzo M, Esposito MV, Berni Canani R. Congenital chloride diarrhea clinical features and management: a systematic review. Pediatr Res. 2021;90(1):23\u20139. https:\/\/doi.org\/10.1038\/s41390-020-01251-2","journal-title":"Pediatr Res"},{"issue":"1","key":"4788_CR14","doi-asserted-by":"publisher","first-page":"26","DOI":"10.1097\/MPG.0000000000001418","volume":"65","author":"F Amato","year":"2017","unstructured":"Amato F, Cardillo G, Liguori R, Scorza M, Comegna M, Elce A, Giordano S, Lucaccioni L, Lugli L, Cardile S, Romano C, Pezzella V, Castaldo G. Berni Canani R. twelve novel mutations in the SLC26A3 gene in 17 sporadic cases of congenital Chloride Diarrhea. J Pediatr Gastroenterol Nutr. 2017;65(1):26\u201330. https:\/\/doi.org\/10.1097\/MPG.0000000000001418","journal-title":"J Pediatr Gastroenterol Nutr"},{"issue":"12","key":"4788_CR15","doi-asserted-by":"publisher","first-page":"949","DOI":"10.3760\/cma.j.issn.2095-428X.2015.12.018","volume":"30","author":"FY Song","year":"2015","unstructured":"Song FY, Chen XB, Liu Y, Ye X, Qiu MF, Liu ZQ. Clinical features and SLC26A3 genetic mutation analysis of a kindred with congenital chloride diarrhea. Chin J Appl Clin Pediatr. 2015;30(12):949\u201351. https:\/\/doi.org\/10.3760\/cma.j.issn.2095-428X.2015.12.018","journal-title":"Chin J Appl Clin Pediatr"},{"key":"4788_CR16","doi-asserted-by":"publisher","unstructured":"Zhang W, Li XH. Congenital chloride diarrhea: one case report[J].J Clin Pediatr,2015,(4):309\u201311. https:\/\/doi.org\/10.3969\/j.issn.1000-3606.2015.04.04","DOI":"10.3969\/j.issn.1000-3606.2015.04.04"},{"issue":"10","key":"4788_CR17","doi-asserted-by":"publisher","first-page":"783","DOI":"10.3760\/cma.j.issn.0578-1310.2016.10.018","volume":"54","author":"YP Liu","year":"2016","unstructured":"Liu YP, Chen YX, Qiu LR, Zhou JH. Novel SLC26A3 mutation in an infant with congenital chloride-losing diarrhea initially misdiagnosed as Bartter\u2019s syndrome[J]. Chin J Pediatr. 2016;54(10):783\u20135. https:\/\/doi.org\/10.3760\/cma.j.issn.0578-1310.2016.10.018","journal-title":"Chin J Pediatr"},{"key":"4788_CR18","doi-asserted-by":"publisher","unstructured":"Lei FY, Chen XP, Tang Q, Zhou ZQ, Ji YH, Li MF. Congenital achloric diarrhea: a case report and literature review[J]. Guangxi Med J 2017,39(5):743\u20135. https:\/\/doi.org\/10.11675\/j.issn.0253-4304.2017.05.49","DOI":"10.11675\/j.issn.0253-4304.2017.05.49"},{"key":"4788_CR19","doi-asserted-by":"publisher","unstructured":"Guo H, Zheng BX, Jin Y. A novel missense mutation Q495K of SLC26A3 gene identified in a Chinese child with congenital chloride-losing diarrhoea. Acta Paediatr. 2017;106(6):1004-1005. https:\/\/doi.org\/10.1111\/apa.13811","DOI":"10.1111\/apa.13811"},{"key":"4788_CR20","doi-asserted-by":"publisher","unstructured":"Wang ZH, Wang F, Liu XQ, Liu S. A case of congenital achloric diarrhea caused by homozygous insertion mutation of SLC26A3 gene[J]. Chin J Diffic and Compl Cas. 2019,18(10):1057-1058. https:\/\/doi.org\/10.3969\/j.issn.1671-6450.2019.10.021","DOI":"10.3969\/j.issn.1671-6450.2019.10.021"},{"issue":"11","key":"4788_CR21","doi-asserted-by":"publisher","first-page":"862","DOI":"10.3760\/cma.j.issn.2095-428X.2019.11.014","volume":"34","author":"YH Li","year":"2019","unstructured":"Li YH, Jin Y, Liu Y, Kang LL, Song JQ, Dong H, Li DX, Li MQ, Yang YL. Case report of congenital chloride diarrhea and literature review. Chin J Appl Clin Pediatr. 2019;34(11):862\u20135. https:\/\/doi.org\/10.3760\/cma.j.issn.2095-428X.2019.11.014","journal-title":"Chin J Appl Clin Pediatr"},{"key":"4788_CR22","doi-asserted-by":"publisher","unstructured":"Lin LF, Yuan TM. Congenital chloride diarrhea: a case report and gene analysis[J]. J Clin Pediatr 2019,37(12):913\u20135. https:\/\/doi.org\/10.3969\/j.issn.1000-3606.2019.12.009","DOI":"10.3969\/j.issn.1000-3606.2019.12.009"},{"issue":"1","key":"4788_CR23","doi-asserted-by":"publisher","first-page":"51","DOI":"10.5114\/pedm.2020.97465","volume":"27","author":"M Sun","year":"2021","unstructured":"Sun M, Tao N, Liu X, Yang Y, Su Y, Xu F. Congenital chloride diarrhea in patient with SLC26A2 mutation - analysis of the clinical phenotype and differential diagnosis. Pediatr Endocrinol Diabetes Metab. 2021;27(1):51\u20136. https:\/\/doi.org\/10.5114\/pedm.2020.97465","journal-title":"Pediatr Endocrinol Diabetes Metab"},{"key":"4788_CR24","doi-asserted-by":"publisher","unstructured":"Yan W, Xiao Y, Zhang Y, Tao Y, Cao Y, Liu K, et al. Monogenic mutations in four cases of neonatal-onset watery diarrhea and a mutation review in East Asia. Orphanet J Rare Dis. 2021;16(1):383. https:\/\/doi.org\/10.1186\/s13023-021-01995-y.","DOI":"10.1186\/s13023-021-01995-y"},{"issue":"2","key":"4788_CR25","doi-asserted-by":"publisher","first-page":"166","DOI":"10.3760\/cma.j.cn511378-20201204-00843","volume":"40","author":"H Yin","year":"2023","unstructured":"Yin H, Chen X, Song F, Wang H, Du M, Qian Y, Huang S. Clinical characteristics and genetic analysis of three children with congenital chlorine diarrhea. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023;40(2):166\u201370. https:\/\/doi.org\/10.3760\/cma.j.cn511378-20201204-00843","journal-title":"Zhonghua Yi Xue Yi Chuan Xue Za Zhi"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04788-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-024-04788-x\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04788-x.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,5,4]],"date-time":"2024-05-04T08:12:55Z","timestamp":1714810375000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-024-04788-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5,4]]},"references-count":25,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4788"],"URL":"https:\/\/doi.org\/10.1186\/s12887-024-04788-x","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5,4]]},"assertion":[{"value":"23 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 April 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"4 May 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The Medical Ethics Committee of Shandong Provincial Hospital confirmed that no further ethical approval was required for the publication of this case report. The parents provided written consent for all genetic studies performed in relation to this case.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient\u2019s parents provided informed consent for publication and signed informed consent for the publication of identifying information\/images in an online open-access publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"305"}}