{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T08:48:38Z","timestamp":1777366118239,"version":"3.51.4"},"reference-count":11,"publisher":"Walter de Gruyter GmbH","issue":"4","license":[{"start":{"date-parts":[[2020,10,1]],"date-time":"2020-10-01T00:00:00Z","timestamp":1601510400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,10,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    <jats:bold>Objective.<\/jats:bold>\n                    Mutations of the\n                    <jats:italic>KCNJ11<\/jats:italic>\n                    gene are the most common cause of the permanent neonatal diabetes mellitus (PNDM). Majority of people with KNCJ11-PNDM have a de-novo mutation. We aimed to compare diabetes phenotype in two children and their mothers with PNDM carrying the same sulfonylurea-sensitive\n                    <jats:italic>KCNJ11<\/jats:italic>\n                    variants.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Methods.<\/jats:bold>\n                    We have compared glibenclamide (sulfonylurea) dose, C-peptide, and HbA1c serum levels in two children and their mothers with PNDM up to 5.5-year follow-up. All of them were carrying a heterozygous activating\n                    <jats:italic>KCNJ11<\/jats:italic>\n                    pathogenic variant (p.R201H in Family 1 or p.H46Y in Family 2). The mothers were initially treated with insulin and successfully switched to sulfonylurea at the age of 24 and 11 years, respectively. Both children were treated with sulfonylurea since the diagnosis of PNDM.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Results.<\/jats:bold>\n                    Glibenclamide dose was similar in both children (0.02\u20130.03 mg\/kg\/day), but lower compared to their mothers (0.1\u20130.4 mg\/kg\/day) (p&lt;0.002). Fasting serum C-peptide levels were also lower in children (70\u2013210 pmol\/l) than in their mothers (263\u2013720 pmol\/l) (p&lt;0.002), but no significant differences were observed in postprandial C-peptide levels. HbA1c was lower only in the son of SVK4 (Family 2) compared to his mother, as she had poor adherence to the sulfonylurea therapy during the first years after the sulfonylurea switch.\n                  <\/jats:p>\n                  <jats:p>\n                    <jats:bold>Conclusions.<\/jats:bold>\n                    Evaluation of the treatment in people with sulfonylurea-sensitive KNCJ11-PNDM should respect the age of patients together with the type of mutation and duration of diabetes at therapy start and may differ within one family.\n                  <\/jats:p>","DOI":"10.2478\/enr-2020-0029","type":"journal-article","created":{"date-parts":[[2021,4,7]],"date-time":"2021-04-07T01:41:45Z","timestamp":1617759705000},"page":"260-265","source":"Crossref","is-referenced-by-count":0,"title":["Comparison of diabetes phenotype in children and their mothers with permanent neonatal diabetes mellitus carrying the same\n                    <i>KCNJ11<\/i>\n                    variants"],"prefix":"10.2478","volume":"54","author":[{"given":"Juraj","family":"Stanik","sequence":"first","affiliation":[{"name":"DIABGENE Laboratory , Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences , Bratislava , Slovakia"},{"name":"Children Diabetes Centre of the Slovak Republic at the Department of Paediatrics , Medical Faculty of Comenius University and National Institute for Children\u2032s Diseases , Bratislava , Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lubomir","family":"Barak","sequence":"additional","affiliation":[{"name":"Children Diabetes Centre of the Slovak Republic at the Department of Paediatrics , Medical Faculty of Comenius University and National Institute for Children\u2032s Diseases , Bratislava , Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adriana","family":"Dankovcikova","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Children Faculty Hospital , Kosice , Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Terezia","family":"Valkovicova","sequence":"additional","affiliation":[{"name":"DIABGENE Laboratory , Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences , Bratislava , Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martina","family":"Skopkova","sequence":"additional","affiliation":[{"name":"DIABGENE Laboratory , Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences , Bratislava , Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela","family":"Gasperikova","sequence":"additional","affiliation":[{"name":"DIABGENE Laboratory , Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences , Bratislava , Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,11,24]]},"reference":[{"key":"2026042723213049253_j_enr-2020-0029_ref_001_w2aab3b7b7b1b6b1ab1ab1Aa","unstructured":"Bowman P, Sulen A, Barbetti F, et al. Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study. Lancet Diabetes Endocrinol 6, 637\u2013646, 2018."},{"key":"2026042723213049253_j_enr-2020-0029_ref_002_w2aab3b7b7b1b6b1ab1ab2Aa","doi-asserted-by":"crossref","unstructured":"Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants. BMC Pediatr 13, 59, 2013.10.1186\/1471-2431-13-59363747723601190","DOI":"10.1186\/1471-2431-13-59"},{"key":"2026042723213049253_j_enr-2020-0029_ref_003_w2aab3b7b7b1b6b1ab1ab3Aa","doi-asserted-by":"crossref","unstructured":"Flanagan SE, Edghill EL, Gloyn AL, Ellard S, Hattersley AT. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life with the phenotype determined by genotype. 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Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes. Diabetologia 58, 1430\u20131435, 2015,10.1007\/s00125-015-3593-9464152325877689","DOI":"10.1007\/s00125-015-3593-9"}],"container-title":["Endocrine Regulations"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/reference-global.com\/pdf\/10.2478\/enr-2020-0029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T07:44:35Z","timestamp":1777362275000},"score":1,"resource":{"primary":{"URL":"https:\/\/reference-global.com\/article\/10.2478\/enr-2020-0029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,10,1]]},"references-count":11,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2020,11,24]]},"published-print":{"date-parts":[[2020,10,1]]}},"alternative-id":["10.2478\/enr-2020-0029"],"URL":"https:\/\/doi.org\/10.2478\/enr-2020-0029","relation":{},"ISSN":["1336-0329"],"issn-type":[{"value":"1336-0329","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,10,1]]}}}