{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T02:28:38Z","timestamp":1788316118635,"version":"build-2803163510"},"reference-count":29,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T00:00:00Z","timestamp":1664496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100007642","name":"Universit\u00e0 degli Studi di Roma Tor Vergata","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007642","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Acta Diabetol"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Aim<\/jats:title>\n                <jats:p>In the pediatric diabetes clinic, patients with type 1 diabetes mellitus (T1D) account for more than 90% of cases, while monogenic forms represent about 6%. Many monogenic diabetes subtypes may respond to therapies other than insulin and have chronic diabetes complication prognosis that is different from T1D. With the aim of providing a better diagnostic pipeline and a tailored care for patients with monogenic diabetes, we set up a monogenic diabetes clinic (MDC).<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>In the first 3\u00a0years of activity 97 patients with non-autoimmune forms of hyperglycemia were referred to MDC. Genetic testing was requested for 80 patients and 68 genetic reports were available for review.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In 58 subjects hyperglycemia was discovered beyond 1\u00a0year of age (Group 1) and in 10 before 1\u00a0year of age (Group 2). Genetic variants considered causative of hyperglycemia were identified in 25 and 6 patients of Group 1 and 2, respectively, with a pick up rate of 43.1% (25\/58) for Group 1 and 60% (6\/10) for Group 2 (global pick-up rate: 45.5%; 31\/68). When we considered probands of Group 1 with a parental history of hyperglycemia, 58.3% (21\/36) had a positive genetic test for <jats:italic>GCK<\/jats:italic> or <jats:italic>HNF1A<\/jats:italic> genes, while pick-up rate was 18.1% (4\/22) in patients with mute family history for diabetes. Specific treatments for each condition were administered in most cases.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>We conclude that MDC <jats:bold>may<\/jats:bold><jats:bold>contribute<\/jats:bold> to provide a better diabetes care in the pediatric setting.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s00592-022-01972-2","type":"journal-article","created":{"date-parts":[[2022,9,30]],"date-time":"2022-09-30T06:04:20Z","timestamp":1664517860000},"page":"61-70","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Monogenic diabetes clinic (MDC): 3-year experience"],"prefix":"10.1007","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3104-5776","authenticated-orcid":false,"given":"Novella","family":"Rapini","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrizia I.","family":"Patera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riccardo","family":"Schiaffini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Ciampalini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Pampanini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteoli M.","family":"Cristina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Deodati","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giorgia","family":"Bracaglia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ottavia","family":"Porzio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosario","family":"Ruta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mafalda","family":"Mucciolo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2580-8781","authenticated-orcid":false,"given":"Stefano","family":"Cianfarani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4687-980X","authenticated-orcid":false,"given":"Fabrizio","family":"Barbetti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,9,30]]},"reference":[{"issue":"6","key":"1972_CR1","doi-asserted-by":"publisher","first-page":"1826","DOI":"10.1210\/jc.2016-2490","volume":"102","author":"M Delvecchio","year":"2017","unstructured":"Delvecchio M, Mozzillo E, Salzano G, Iafusco D, Frontino G, Patera PI et al (2017) Monogenic diabetes accounts for 6.3% of cases referred to 15 Italian pediatric diabetes centers during 2007\u20132012. 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