{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T08:08:18Z","timestamp":1769069298733,"version":"3.49.0"},"reference-count":24,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T00:00:00Z","timestamp":1594857600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T00:00:00Z","timestamp":1594857600000},"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 Nephrol"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>Renal hypouricemia (RHUC) is a genetic disorder caused by mutations in the <jats:italic>SLC22A12<\/jats:italic> gene, which encodes the major uric acid (UA) transporter, URAT1. The clinical course of related, living donor-derived RHUC in patients undergoing kidney transplantation is poorly understood. Here, we report a case of kidney transplantation from a living relative who had an <jats:italic>SLC22A12<\/jats:italic> mutation. After the transplantation, the recipient\u2019s fractional excretion of UA (FEUA) decreased, and chimeric tubular epithelium was observed.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>A 40-year-old man underwent kidney transplantation. His sister was the kidney donor. Three weeks after the transplantation, he had low serum-UA, 148.7\u2009\u03bcmol\/L, and elevated FEUA, 20.8% (normal: &lt;\u200910%). The patient\u2019s sister had low serum-UA (101.1\u2009\u03bcmol\/L) and high FEUA (15.8%) before transplant. Suspecting RHUC, we performed next-generation sequencing on a gene panel containing RHUC-associated genes. A heterozygous missense mutation in the <jats:italic>SLC22A12<\/jats:italic> gene was detected in the donor, but not in the recipient. The recipient\u2019s serum-UA level increased from 148.7\u2009\u03bcmol\/L to 231.9\u2009\u03bcmol\/L 3\u2009months after transplantation and was 226.0\u2009\u03bcmol\/L 1\u2009year after transplantation. His FEUA decreased from 20.8 to 11.7% 3\u2009months after transplantation and was 12.4% 1\u2009year after transplantation. Fluorescence in situ hybridization of allograft biopsies performed 3\u2009months and 1\u2009year after transplantation showed the presence of Y chromosomes in the tubular epithelial cells, suggesting the recipient\u2019s elevated serum-UA levels were owing to a chimeric tubular epithelium.<\/jats:p>\n<\/jats:sec><jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>We reported on a kidney transplant recipient that developed RHUC owing to his donor possessing a heterozygous mutation in the <jats:italic>SLC22A12<\/jats:italic> (URAT1) gene. Despite this mutation, the clinical course was not problematic. Thus, the presence of donor-recipient chimerism in the tubular epithelium might positively affect the clinical course, at least in the short-term.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s12882-020-01940-4","type":"journal-article","created":{"date-parts":[[2020,7,16]],"date-time":"2020-07-16T10:03:28Z","timestamp":1594893808000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Transplantation of a kidney with a heterozygous mutation in the SLC22A12 (URAT1) gene causing renal hypouricemia: a case report"],"prefix":"10.1186","volume":"21","author":[{"given":"Kiyokazu","family":"Tsuji","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0003-8645","authenticated-orcid":false,"given":"Mineaki","family":"Kitamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kumiko","family":"Muta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasushi","family":"Mochizuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takayasu","family":"Mori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eisei","family":"Sohara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichi","family":"Uchida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Sakai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Mukae","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoya","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,7,16]]},"reference":[{"key":"1940_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1159\/000421446","volume":"100","author":"O Sperling","year":"1992","unstructured":"Sperling O. 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Am J Kidney Dis. 1995. https:\/\/doi.org\/10.1016\/0272-6386(95)90579-0.","DOI":"10.1016\/0272-6386(95)90579-0"}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-020-01940-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12882-020-01940-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-020-01940-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T23:32:46Z","timestamp":1626391966000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-020-01940-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,16]]},"references-count":24,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1940"],"URL":"https:\/\/doi.org\/10.1186\/s12882-020-01940-4","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,16]]},"assertion":[{"value":"12 May 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 July 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"This case report was approved by the Ethical Committee of the Nagasaki University Hospital (20042031).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent to publish this case report, and any accompanying images were obtained from the donor and the recipient. A copy of the written consent is available for review from the journal\u2019s Editor.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"282"}}