{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T04:34:26Z","timestamp":1791866066948,"version":"4.3.4"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,7,3]],"date-time":"2018-07-03T00:00:00Z","timestamp":1530576000000},"content-version":"vor","delay-in-days":183,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>\n                    Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (\n                    <jats:italic>AVPR2<\/jats:italic>\n                    ) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the\n                    <jats:italic>AVPR2.<\/jats:italic>\n                    Two of the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age. Analysis of\n                    <jats:italic>AVPR2<\/jats:italic>\n                    identified two nonsense mutations (c.299_300insA; p.K100KfsX91 and c.296G\u2009&gt;\u2009A; p.W99X) and one missense mutation (c.316C\u2009&gt;\u2009T; p.R106C). These mutations were previously reported. The patient with c.316C\u2009&gt;\u2009T; p.R106C had milder symptoms consistent with previous reports. Of the familial cases, the sister was diagnosed as having NDI, but a skewed X\u2010inactivation pattern in her peripheral blood lymphocytes was not identified. In conclusion, our study expands the spectrum of phenotypes and characterized mutations in\n                    <jats:italic>AVPR2<\/jats:italic>\n                    in NDI.\n                  <\/jats:p>","DOI":"10.1155\/2018\/6561952","type":"journal-article","created":{"date-parts":[[2018,7,3]],"date-time":"2018-07-03T19:53:33Z","timestamp":1530647613000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the\n                    <i>AVPR2<\/i>\n                    Mutations"],"prefix":"10.1155","volume":"2018","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7499-881X","authenticated-orcid":false,"given":"Noriko","family":"Namatame-Ohta","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5547-9491","authenticated-orcid":false,"given":"Shuntaro","family":"Morikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6632-7426","authenticated-orcid":false,"given":"Akie","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kumihiro","family":"Matsuo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahide","family":"Nakajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Tomizawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Tanahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshihiro","family":"Tajima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,3]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2015.89"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2016.02.010"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/357333a0"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1681\/asn.2005040371"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajprenal.00404.2004"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.V1091958"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.metabol.2012.01.005"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000245059"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.m111.268797"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-015-2534-4"},{"key":"e_1_2_8_11_2","first-page":"1229","article-title":"Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation","volume":"51","author":"Allen R. 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