{"orpha":79298,"name":"Diazoxide-resistant focal hyperinsulinism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form"],"definition":"A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79298/","orphanet_url":"https://www.orpha.net/en/disease/detail/79298","names":{"fr":{"name":"Hyperinsulinisme focal résistant au diazoxide","synonyms":["Hypoglycémie hyperinsulinémique, forme focale résistante au diazoxide"],"definition":"Forme d'hyperinsulinisme résistant au diazoxide caractérisée par des épisodes récurrents d'hypoglycémie profonde causée par une sécrétion excessive/non contrôlée d'insuline (inappropriée par rapport à la glycémie) due à une hyperplasie adénomateuse focale du pancréas, qui ne répond pas au traitement par diazoxide."},"de":{"name":"Hyperinsulinismus, fokaler, Diazoxid-resistanter","synonyms":["Hyperinsulinämische Hypoglykämie, Diazoxid-resistente fokale Form"],"definition":"Eine Form des kongenitalen Diazoxid-resistenten Hyperinsulinismus, der durch wiederkehrende Episoden von schwerer Hypoglykämie gekennzeichnet ist, die durch eine übermäßige/unkontrollierte Insulinsekretion (unangemessen für den Blutzuckerspiegel) aufgrund einer fokalen adenomatösen Hyperplasie der Bauchspeicheldrüse verursacht wird und auf eine medizinische Behandlung mit Diazoxid nicht anspricht."},"es":{"name":"Hiperinsulinismo focal resistente al diazóxido","synonyms":["Hipoglucemia hiperinsulinémica, forma focal resistente al diazóxido"],"definition":"Es una forma de hiperinsulinismo congénito resistente al diazóxido que se caracteriza por episodios recurrentes de hipoglucemia profunda causados por una secreción de insulina excesiva/incontrolada (inadecuada para el nivel de glucemia) debido a hiperplasia adenomatosa focal del páncreas, que no responde al tratamiento farmacológico con diazóxido."},"it":{"name":"Iperinsulinismo focale resistente al diazoxide","synonyms":["Ipoglicemia iperinsulinemica, forma focale resistente al diazoxide"]},"nl":{"name":"Diazoxideresistent focaal hyperinsulinisme","synonyms":["Hyperinsulinemische hypoglycemie, diazoxideresistente focale vorm"],"definition":"Een zeldzame vorm van congenitaal diazoxideresistent hyperinsulinisme, gekenmerkt door recidiverende episodes van zeer ernstige hypoglycemie door overmatige/ongecontroleerde secretie van insuline (ongeschikt voor de bloedsuikerspiegel) als gevolg van focale adenomateuze hyperplasie, en resistentie tegen medische behandeling met diazoxide."},"pt":{"name":"Hiperinsulinismo focal resistente ao diazóxido","definition":"Forma de hiperinsulinismo congénito resistente à terapêutica com diazóxido, caracterizada por episódios recorrentes de hipoglicémia grave causada por secreção excessiva/descontrolada de insulina (inapropriada para o nível de glicemia) devido a uma hiperplasia adenomatosa focal do pâncreas, que não responde ao tratamento médico com diazóxido."},"pl":{"name":"Hiperinsulinizm ogniskowy oporny na diazoksyd","synonyms":["Hipoglikemia hiperinsulinemiczna, forma ogniskowa oporna na diazoksyd"],"definition":"Postać wrodzonego hiperinsulinizmu opornego na diazoksyd, charakteryzująca się nawracającymi epizodami głębokiej hipoglikemii spowodowanej nadmiernym/niekontrolowanym wydzielaniem insuliny (nieadekwatnym do poziomu glikemii) w wyniku ogniskowego gruczolakowatego rozrostu trzustki, niereagującego na leczenie zachowawcze diazoksydem."},"cs":{"name":"Diazoxid-rezistentní fokální hyperinzulinismus","synonyms":["Hyperinzulinemická hypoglykémie, diazoxid-rezistentní fokální forma"]},"uk":{"name":"Діазоксид-резистентний фокальний гіперінсулінізм","synonyms":["Гіперінсулінемічна гіпоглікемія, діазоксирезистентна фокальна форма"],"definition":"A form of congenital diazoxide-resistant hyperinsulinism characterized by recurrent episodes of profound hypoglycemia caused by an excessive/uncontrolled insulin secretion (inappropriate for the level of glycemia) due to a focal adenomatous hyperplasia of pancreas, that is unresponsive to medical treatment with diazoxide."},"zh":{"name":"二氮嗪抵抗型局部高胰岛素血症","synonyms":["高胰岛素血症性低血糖，二氮嗪抵抗型局部型"]},"tr":{"name":"Diazoksite dirençli fokal hiperinsülinizm","synonyms":["Hiperinsülinemik hipoglisemi, diazoksite dirençli fokal form"]}},"xrefs":[{"source":"MONDO","code":"0019265","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19265","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680204","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":276585,"name":"Diazoxide-resistant hyperinsulinism","classifications":[150,156,193]}],"children":[{"orpha":276603,"name":"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","type":"Disease"},{"orpha":276598,"name":"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}