{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T09:02:14Z","timestamp":1780736534524,"version":"3.54.1"},"reference-count":0,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2014,12,1]],"date-time":"2014-12-01T00:00:00Z","timestamp":1417392000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Nephrogenic diabetes insipidus (NDI) is caused by the inability of renal collecting duct cells to respond to arginine vasopressin (AVP)\/antidiuretic hormone (ADH). We present the case of a 7-year-old boy with a history of excretion of large amounts of dilute urine and polydipsia since infancy. The boy had several vomiting episodes with mild dehydration during the first 3 years of life. There was no evidence of headaches, dizziness or visual problems. He drinks between 2 and 3 L\/day and has 24-hour diuresis of 2 liters, now. He has prepubertal appearance with appropriate weight [+0.85 standard deviation score (SDS)] and height (+0.15 SDS) for his age. His intelligence was also normal. The water deprivation test showed low urine osmolality after 8 hours of dehydration. After desmopressin administration, urine osmolality remained low. Serum osmolality was in the normal range for sex and age before and after desmopressin administration. This indicated a nephrogenic form of diabetes insipidus. Molecular analyses revealed a P286L [p.Pro(CCC)286Leu(CTC)] mutation in the AVPR2 gene, that was inherited from his mother. This patient is the first case with genetically confirmed X-linked inherited form of NDI in the Republic of Macedonia. Molecular analysis confirmed the clinical diagnosis and enabled genetic advice for this family.<\/jats:p>","DOI":"10.2478\/bjmg-2014-0078","type":"journal-article","created":{"date-parts":[[2015,4,16]],"date-time":"2015-04-16T09:35:14Z","timestamp":1429176914000},"page":"81-85","source":"Crossref","is-referenced-by-count":2,"title":["X-Linked Recessive Form of Nephrogenic Diabetes Insipidus in A 7-Year-Old Boy"],"prefix":"10.2478","volume":"17","author":[{"given":"A.","family":"Janchevska","sequence":"first","affiliation":[{"name":"Department of endocrinology and genetics, University Children\u2019s Hospital Skopje, Medical Faculty, 1000 Skopje, Republic of Macedonia. Tel: +389-2-3147-474. Fax:+389-2-3129-027"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Tasic","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Skopje, Medical Faculty, Skopje, Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Gucev","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Skopje, Medical Faculty, Skopje, Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Krstevska-Konstantinova","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Skopje, Medical Faculty, Skopje, Macedonia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. I.","family":"Cheong","sequence":"additional","affiliation":[{"name":"Seoul National University Children\u2019s Hospital, Seoul, Korea"},{"name":"Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea"},{"name":"Kidney Research Institute, Medical Research Center, Seoul National University College of Medicine, Seoul, Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2015,4,10]]},"container-title":["Balkan Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/bjmg-2014-0078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,6]],"date-time":"2026-06-06T08:35:52Z","timestamp":1780734952000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/bjmg-2014-0078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,12,1]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2015,4,10]]},"published-print":{"date-parts":[[2014,12,1]]}},"alternative-id":["10.2478\/bjmg-2014-0078"],"URL":"https:\/\/doi.org\/10.2478\/bjmg-2014-0078","relation":{},"ISSN":["1311-0160"],"issn-type":[{"value":"1311-0160","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,12,1]]}}}