{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,16]],"date-time":"2026-07-16T09:20:35Z","timestamp":1784193635729,"version":"3.55.0"},"reference-count":20,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,8,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p\/>\n               <jats:sec id=\"j_jpem-2019-0529_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder which is characterized by unresponsiveness to arginine vasopressin (AVP) in collecting ducts and leads to polyuria and polydipsia. The wide clinical spectrum of congenital NDI can cause difficulties in early diagnosis. We aimed to evaluate clinical prognosis of children with congenital NDI in long-term period.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0529_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>Nineteen children with congenital NDI followed up in Pediatric Nephrology Department were enrolled to the study. This study is a single-center retrospective study, which reports clinical follow-up and genetic results of children with congenital NDI.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0529_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Presenting symptoms of patients were mostly dehydration and fever due to polyuria and polydipsia. Four male patients had bilateral nonobstructive hydroureteronephrosis (HUN) and neurogenic bladder which requires clean intermittent catheterization (CIC). One patient had intracranial calcification which is a rarely seen complication in congenital NDI due to recurrent hypernatremic dehydration and severe brain dehydration. The causative mutations were identified in all patients. The identified mutations in six of them (31.6%) were hemizygous mutations in <jats:italic>AVP<\/jats:italic>R2 gene and homozygous mutations of <jats:italic>AQP<\/jats:italic>2 gene in the rest 13 cases (68.4%). More than that, four of these mutations (two in <jats:italic>AVP<\/jats:italic>R2 and two in <jats:italic>AQP<\/jats:italic>2) were novel mutations. Noncompliance with the treatments is associated with high risk of morbidity due to neurogenic bladder and chronic kidney disease (CKD).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0529_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>The prognosis of congenital NDI is good when diagnosis can be made early and treatment is started immediately. Genetic counseling and prenatal testing for hereditary diseases are recommended especially in regions with relatively higher rates of consanguineous marriages.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0529","type":"journal-article","created":{"date-parts":[[2020,7,10]],"date-time":"2020-07-10T12:57:14Z","timestamp":1594385834000},"page":"1019-1025","source":"Crossref","is-referenced-by-count":6,"title":["From infancy to adulthood: challenges in congenital nephrogenic diabetes insipidus"],"prefix":"10.1515","volume":"33","author":[{"given":"Bahriye","family":"Atmis","sequence":"first","affiliation":[{"name":"Department of Pediatric Nephrology , Cukurova Univsersity Faculty of Medicine , Adana , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aysun Karabay","family":"Bayazit","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology , Cukurova Univsersity Faculty of Medicine , Adana , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Engin","family":"Melek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology , Cukurova Univsersity Faculty of Medicine , Adana , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atil","family":"Bisgin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics , Cukurova University Faculty of Medicine , Adana , Turkey"},{"name":"Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center) , Adana , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ali","family":"Anarat","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology , Cukurova Univsersity Faculty of Medicine , Adana , Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2020,7,6]]},"reference":[{"key":"2021082202005786704_j_jpem-2019-0529_ref_001","doi-asserted-by":"crossref","unstructured":"Knoers, VAMN, Levtchenko, EN. Nephrogenic diabetes insipidus in children. In: Avner, ED, Harmon, VE, Niaudet, P, Yoshikawa, N, Emma, F, Goldstein, SL, editors. Pediatric nephrology, 7th ed. Berlin Heidelberg: Springer-Verlag; 2016:1307\u201327.","DOI":"10.1007\/978-3-662-43596-0_36"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_002","doi-asserted-by":"crossref","unstructured":"Wesche, D, Deen, PM, Knoers, NV. Congenital nephrogenic diabetes insipidus: the current state of affairs. Pediatr Nephrol 2012;27:2183\u2013204. https:\/\/doi.org\/10.1007\/s00467-012-2118-8.","DOI":"10.1007\/s00467-012-2118-8"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_003","doi-asserted-by":"crossref","unstructured":"Bockenhauer, D, Bichet, DG. Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus. Nat Rev Nephrol 2015;11:576\u201388. https:\/\/doi.org\/10.1038\/nrneph.2015.89.","DOI":"10.1038\/nrneph.2015.89"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_004","doi-asserted-by":"crossref","unstructured":"Uribarri, J, Kaskas, M. Hereditary nephrogenic diabetes insipidus and bilateral nonobstructive hydronephrosis. Nephron 1993;65:346\u20139. https:\/\/doi.org\/10.1159\/000187510.","DOI":"10.1159\/000187510"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_005","doi-asserted-by":"crossref","unstructured":"Linshaw, MA. Back to basics: congenital nephrogenic diabetes insipidus. Pediatr Rev 2007;28:372\u201380. https:\/\/doi.org\/10.1542\/pir.28-10-372.","DOI":"10.1542\/pir.28-10-372"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_006","doi-asserted-by":"crossref","unstructured":"Bichet, DG, Bockenhauer, D. Genetic forms of nephrogenic diabetes insipidus (NDI): vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant). Best Pract Res Clin Endocrinol Metabol 2016;30:263\u201376. https:\/\/doi.org\/10.1016\/j.beem.2016.02.010.","DOI":"10.1016\/j.beem.2016.02.010"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_007","doi-asserted-by":"crossref","unstructured":"Milano, S, Carmosino, M, Gerbino, A, Svelto, M, Procino, G, 2017. Hereditary nephrogenic diabetes insipidus: pathophysiology and possible treatment. An update. Int J Mol Sci 18, 2385. https:\/\/doi.org\/10.3390\/ijms18112385.","DOI":"10.3390\/ijms18112385"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_008","doi-asserted-by":"crossref","unstructured":"Schwartz, GJ, Mu\u00f1oz, A, Schneider, MF, Mak, RH, Kaskel, F, Warady, BA, et al. New equations to estimate GFR in children with CKD. 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Eur J Pediatr 2015;174:1373\u201385. https:\/\/doi.org\/10.1007\/s00431-015-2534-4.","DOI":"10.1007\/s00431-015-2534-4"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_017","doi-asserted-by":"crossref","unstructured":"Sasaki, S, Chiga, M, Kikuchi, E, Rai, T, Uchida, S. Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2. Clin Exp Nephrol 2013;17:338\u201344. https:\/\/doi.org\/10.1007\/s10157-012-0726-z.","DOI":"10.1007\/s10157-012-0726-z"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_018","doi-asserted-by":"crossref","unstructured":"Dabrowski, E, Kadakia, R, Zimmerman, D. Diabetes insipidus in infants and children. Best Pract Res Clin Endocrinol Metabol 2016;30:317\u201328. https:\/\/doi.org\/10.1016\/j.beem.2016.02.006.","DOI":"10.1016\/j.beem.2016.02.006"},{"key":"2021082202005786704_j_jpem-2019-0529_ref_019","doi-asserted-by":"crossref","unstructured":"Ryu, HH, Chung, JH, Shin, BC, Kim, HL. 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