{"orpha":276585,"name":"Diazoxide-resistant hyperinsulinism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Diazoxide-resistant hyperinsulinemic hypoglycemia"],"definition":"A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276585/","orphanet_url":"https://www.orpha.net/en/disease/detail/276585","names":{"fr":{"name":"Hyperinsulinisme resistant au diazoxide","synonyms":["Hypoglycémie hyperinsulinémique résistante au diazoxide"],"definition":"Forme d'hyperinsulisme congénital isolé caractérisée par une sécrétion excessive/incontrôlée d'insuline (inadéquate par rapport au taux de glycémie), des épisodes récurrents d'hypoglycémie profonde et une résistance au traitement médical par le diazoxide. L'atteinte pancréatique peut être diffuse ou focale."},"de":{"name":"Hyperinsulinismus, Diazoxid-resistenter","synonyms":["Hypoglykämie, hyperinsulinämische, Diazoxid-resistente"],"definition":"Eine Form des angeborenen isolierten Hyperinsulismus, die durch eine übermäßige/unkontrollierte Insulinausschüttung (unangemessen für den Blutzuckerspiegel), wiederkehrende Episoden tiefer Hypoglykämie und Resistenz gegen eine medizinische Behandlung mit Diazoxid gekennzeichnet ist. Die Pankreasbeteiligung kann diffus oder fokal sein."},"es":{"name":"Hiperinsulinismo resistente al diazóxido","synonyms":["Hipoglucemia hiperinsulinémica resistente al diazóxido"],"definition":"Es una forma de hiperinsulismo congénito aislado caracterizado por una secreción excesiva/incontrolada de insulina (inadecuada para el nivel de glucemia), episodios recurrentes de hipoglucemia profunda y resistencia al tratamiento farmacológico con diazóxido. La afectación pancreática puede ser difusa o focal."},"it":{"name":"Iperinsulinismo resistente al diazossido","synonyms":["Ipoglicemia iperinsulinemica resistente al diazossido"]},"nl":{"name":"Diazoxideresistent hyperinsulinisme","synonyms":["Diazoxideresistente hyperinsulinemische hypoglycemie"],"definition":"Een vorm van congenitaal geïsoleerd hyperinsulinisme, gekenmerkt door overmatige/ongecontroleerde secretie van insuline (ongeschikt voor de bloedsuikerspiegel), recidiverende episodes van zeer ernstige hypoglycemie, en resistentie tegen medische behandeling met diazoxide. Betrokkenheid van pancreas kan diffuus of focaal zijn."},"pt":{"name":"Hiperinsulinismo resistente ao diazóxido","definition":"Forma de hiperinsulismo congénito isolado caracterizado por secreção excessiva/descontrolada de insulina (inapropriada para o nível de glicemia), episódios recorrentes de hipoglicemia grave e resistência ao tratamento médico com diazóxido. O envolvimento pancreático pode ser difuso ou focal."},"pl":{"name":"Hiperinsulinizm oporny na diazoksyd","synonyms":["Hipoglikemia hiperinsulinemiczna oporna na diazoksyd"],"definition":"Postać wrodzonego izolowanego hiperinsulizmu, charakteryzująca się nadmiernym/niekontrolowanym wydzielaniem insuliny (nieadekwatnym do poziomu glikemii), nawracającymi epizodami głębokiej hipoglikemii i opornością na leczenie zachowawcze diazoksydem. Zajęcie trzustki może mieć charakter rozlany lub ogniskowy."},"cs":{"name":"Diazoxid-rezistentní hyperinzulinismus","synonyms":["Diazoxid-rezistentní hyperinzulinemická hypoglykémie"]},"uk":{"name":"Діазоксидрезистентний гіперінсулінізм","synonyms":["Діазоксирезистентна гіперінсулінемічна гіпоглікемія"],"definition":"A form of congenital isolated hyperinsulism characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), recurrent episodes of profound hypoglycemia and resistance to medical management with diazoxide. Pancreatic involvement can be diffuse or focal."},"zh":{"name":"抗二氮嗪高胰岛素血症","synonyms":["抗二氮嗪高胰岛素低血糖血症"],"definition":"二氮嗪抵抗型高胰岛素血症（DRH）是先天性孤立性高胰岛素血症（见本术语）的一种，由胰腺B细胞异常分泌胰岛素引起，可为弥漫性或局灶性，其特征是胰岛素分泌过多/失控（与血糖水平不符），反复发作的严重低血糖和二氮嗪治疗抵抗。"},"tr":{"name":"Diazoksite dirençli hiperinsülinizm","synonyms":["Diazoksite dirençli hiperinsülinemik hipoglisemi"]}},"xrefs":[{"source":"MONDO","code":"0017186","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17186","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679778","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":657,"name":"Congenital isolated hyperinsulinism","classifications":[150,156,193]}],"children":[{"orpha":165988,"name":"Diazoxide-resistant diffuse hyperinsulinism","type":"Clinical group"},{"orpha":79298,"name":"Diazoxide-resistant focal hyperinsulinism","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}