{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T22:54:41Z","timestamp":1790204081508,"version":"4.1.0"},"reference-count":39,"publisher":"The Endocrine Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Context: Mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic \u03b2-cell KATP channel have recently been shown to be the most common cause of permanent neonatal diabetes mellitus (PNDM). Information regarding the frequency of PNDM has been based mainly on nonpopulation or short-term collections only. Thus, the aim of this study was to identify the incidence of PNDM in Slovakia and to switch patients to sulfonylurea (SU) where applicable.<\/jats:p>\n               <jats:p>Design: We searched for PNDM patients in the Slovak Children Diabetes Registry. In insulin-treated patients who matched the clinical criteria for PNDM, the KCNJ11 or ABCC8 genes were sequenced, and mutation carriers were invited for replacement of insulin with SU.<\/jats:p>\n               <jats:p>Results: Eight patients with diabetes onset before the sixth month of life without remission were identified since 1981, which corresponds to the PNDM incidence in Slovakia of one case in 215,417 live births. In four patients, three different KCNJ11 mutations were found (R201H, H46Y, and L164P). Three patients with the KCNJ11 mutations (R201H and H46Y) were switched from insulin to SU, decreasing their glycosylated hemoglobin from 9.3\u201311.0% on insulin to 5.7\u20136.6% on SU treatment. One patient has a novel V86A mutation in the ABCC8 gene and was also substituted with SU.<\/jats:p>\n               <jats:p>Conclusions: PNDM frequency in Slovakia is much higher (one in 215,417 live births) than previously suggested from international estimates (about one in 800,000). We identified one ABCC8 and four KCNJ11 mutation carriers, of whom four were successfully transferred to SU, dramatically improving their diabetes control and quality of life.<\/jats:p>","DOI":"10.1210\/jc.2006-2490","type":"journal-article","created":{"date-parts":[[2007,1,10]],"date-time":"2007-01-10T04:37:44Z","timestamp":1168403864000},"page":"1276-1282","source":"Crossref","is-referenced-by-count":93,"title":["Prevalence of Permanent Neonatal Diabetes in Slovakia and Successful Replacement of Insulin with Sulfonylurea Therapy in KCNJ11 and ABCC8 Mutation Carriers"],"prefix":"10.1210","volume":"92","author":[{"given":"Juraj","family":"Stanik","sequence":"first","affiliation":[{"name":"DIABGENE and the Diabetes Research Laboratory (J.S., D.G., I.K.), Institute of Experimental Endocrinology, 833 06 Bratislava, Slovakia"},{"name":"Children Diabetes Center at the First Department of Pediatrics (J.S., L.B., E.J.), Comenius University Medical School, 833 40 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Gasperikova","sequence":"first","affiliation":[{"name":"DIABGENE and the Diabetes Research Laboratory (J.S., D.G., I.K.), Institute of Experimental Endocrinology, 833 06 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Paskova","sequence":"first","affiliation":[{"name":"Second Department of Pediatrics (M.P.), Safarik University Medical School, 040 11 Kosice, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lubomir","family":"Barak","sequence":"first","affiliation":[{"name":"Children Diabetes Center at the First Department of Pediatrics (J.S., L.B., E.J.), Comenius University Medical School, 833 40 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Javorkova","sequence":"first","affiliation":[{"name":"Department of Pediatrics (J.J., M.C.), Jessenius Faculty Medicine, Comenius University, 036 59 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Jancova","sequence":"first","affiliation":[{"name":"Children Diabetes Center at the First Department of Pediatrics (J.S., L.B., E.J.), Comenius University Medical School, 833 40 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Ciljakova","sequence":"first","affiliation":[{"name":"Department of Pediatrics (J.J., M.C.), Jessenius Faculty Medicine, Comenius University, 036 59 Martin, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hlava","sequence":"first","affiliation":[{"name":"National Health Registries Division (P.H.), National Health Information Center, 811 09 Bratislava, Slovakia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Michalek","sequence":"first","affiliation":[{"name":"National Institute for Diabetes and 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