{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T16:20:52Z","timestamp":1791822052836,"version":"4.3.4"},"reference-count":23,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Kidney Blood Press Res"],"published-print":{"date-parts":[[2018]]},"abstract":"<b><i>Background\/Aims:<\/i><\/b> Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: <i>SLC4A1<\/i>, <i>ATP6V1B1<\/i>, and <i>ATP6V0A4<\/i>. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. <b><i>Methods:<\/i><\/b> A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. <b><i>Results:<\/i><\/b> Pathogenic mutations, including six novel mutations, were detected in 15 (88.2%) patients: dominant <i>SLC4A1<\/i> mutations in ten (58.8%) patients, recessive <i>ATP6V0A4<\/i> mutations in three (17.6%) patients, and recessive <i>ATP6V1B1<\/i> mutations in two (11.8%) patients. Compared to other patients, patients with <i>SLC4A1<\/i> mutations showed an older age of onset (3.7 \u00b1 2.6 years) and less severe metabolic acidosis at initial presentation. All patients developed nephrocalcinosis, and sensorineural hearing loss was observed in two patients with <i>ATP6V1B1<\/i> mutations. Three (17.6%) patients had decreased renal function (chronic kidney disease stage 2), and five (29.4%) patients had persistent growth retardation at the last follow-up. Long-term prognosis showed no genotype\u2013phenotype correlation. <b><i>Conclusions:<\/i><\/b> <i>SLC4A1<\/i> is the most common defective gene in Korean children with dRTA. Patients with <i>SLC4A1<\/i> mutations show later onset and milder disease severity. Long-term follow-up of hearing ability, renal function, and growth is necessary for patients with dRTA.<\/jats:p>","DOI":"10.1159\/000488698","type":"journal-article","created":{"date-parts":[[2018,4,6]],"date-time":"2018-04-06T21:01:59Z","timestamp":1523048519000},"page":"513-521","source":"Crossref","is-referenced-by-count":29,"title":["Genotype\u2013Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis"],"prefix":"10.1159","volume":"43","author":[{"given":"Eujin","family":"Park","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Myung\u00a0Hyun","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye\u00a0Sun","family":"Hyun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jae\u00a0Il","family":"Shin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joo\u00a0Hoon","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young\u00a0Seo","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hyun\u00a0Jin","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hee\u00a0Gyung","family":"Kang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hae\u00a0Il","family":"Cheong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2018,3,29]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000023433.08833.88"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000023430.92674.E5"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfs442"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/5022"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/79208"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.11.6337"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/qjmed\/hcs139"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI4836"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)81194-1"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-016-3573-4"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-119"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3109\/0886022X.2014.930332"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2015.243"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gft216"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.kint.2016.12.017"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008030287"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.11.6380"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0854.2005.00366.x"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2016020169"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.796"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2005121305"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1159\/000478781"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80288-6"}],"container-title":["Kidney and Blood Pressure Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/488698","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/488698","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:21:12Z","timestamp":1745425272000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000488698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":23,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,6,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000488698","archive":["Portico"],"relation":{},"ISSN":["1420-4096","1423-0143"],"issn-type":[{"value":"1420-4096","type":"print"},{"value":"1423-0143","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}