{"orpha":165988,"name":"Diazoxide-resistant diffuse hyperinsulinism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form"],"definition":"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of 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 diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-165988/","orphanet_url":"https://www.orpha.net/en/disease/detail/165988","names":{"fr":{"name":"Hyperinsulinisme diffus résistant au diazoxide","synonyms":["Hypoglycémie hyperinsulinémique, forme diffuse résistante au diazoxide"],"definition":"Forme d'hyperinsulinisme résistant au diazoxide caractérisée par des épisodes récurrents d'hypoglycémie profonde provoquée par une sécrétion excessive/incontrôlée d'insuline (inappropriée au niveau de glycémie) due à une atteinte diffuse du pancréas qui ne répond pas au traitement médical au diazoxide, nécessitant souvent une pancréatectomie quasi-totale/totale."},"de":{"name":"Hyperinsulinismus, diffuser, Diazoxid-resistenter","synonyms":["Hyperinsulinämische Hypoglykämie, Diazoxid-resistente diffuse Form"]},"es":{"name":"Hiperinsulinismo difuso resistente al diazóxido","synonyms":["Hipoglucemia hiperinsulinémica, forma difusa resistente al diazóxido"],"definition":"Es una forma de hiperinsulinismo resistente al diazóxido caracterizado por episodios recurrentes de hipoglucemia profunda causados ​​por una secreción de insulina excesiva/incontrolada (inadecuada para el nivel de glucemia) debido a la afectación difusa del páncreas que no responde al tratamiento farmacológico con diazóxido. A menudo requiere pancreatectomía casi total/total."},"it":{"name":"Iperinsulinismo diffuso resistente al diazossido","synonyms":["Ipoglicemia iperinsulinemica, forma diffusa resistente al diazossido"]},"nl":{"name":"Diazoxideresistent diffuus hyperinsulinisme","synonyms":["Hyperinsulinemische hypoglycemie, diazoxideresistente diffuse vorm"],"definition":"Diazoxideresistent diffuus hyperinsulinisme (DRDH) is een vorm van diazoxideresistent hyperinsulinisme (zie deze term) die wordt gekarakteriseerd door terugkerende periodes met ernstige hypoglykemie ten gevolge van overdadige/ongecontroleerde secretie van insuline (ongepast voor de bloedsuikerspiegel). De oorzaak hiervan is diffuse betrokkenheid van de pancreas die niet reageert op medische behandeling met diazoxide, en bijgevolg is vaak een volledige of bijna volledige verwijdering van de pancreas nodig."},"pt":{"name":"Hiperinsulinismo difuso resistente ao diazóxido"},"pl":{"name":"Rozlany hiperinsulinizm oporny na diazoksyd","synonyms":["Hipoglikemia hiperinsulinemiczna, forma rozlana oporna na diazoksyd"]},"cs":{"name":"Difuzní hyperinzulinismus rezistentní na diazoxid","synonyms":["Hyperinzulinemická hypoglykemie, difuzní forma rezistentní na diazoxid"]},"uk":{"name":"Дифузний гіперінсулінізм, резистентний до діазоксиду","synonyms":["Гіперінсулінемічна гіпоглікемія, діазоксирезистентна дифузна форма"],"definition":"Diazoxide-resistant diffuse hyperinsulism (DRDH) is a form of Diazoxide resistant hyperinsulinism (see this term) characterized by recurrent episodes of profound hypoglycemia caused by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia) due to diffuse involvement of pancreas that is unresponsive to medical treatment with diazoxide, often necessitating near total/total pancreatectomy."},"zh":{"name":"二氮嗪抵抗型弥漫性高胰岛素血症","synonyms":["二氮嗪抵抗型弥漫性高胰岛素低血糖症"],"definition":"二氮嗪抵抗型弥漫性高胰岛素血症(DRDH)是二氮嗪抵抗型高胰岛素血症(见该词条)的一种，其特征是由于胰腺弥漫性受累导致胰岛素分泌过多/不受控制(与血糖水平不符)，而引起严重低血糖反复发作。该病对二氮嗪药物治疗无效，通常需要进行近全/全胰腺切除术。"},"tr":{"name":"Diazoksite dirençli yaygın hiperinsülinizm","synonyms":["Hiperinsülinemik hipoglisemi, diazoksit-dirençli yaygın form"]}},"xrefs":[{"source":"MONDO","code":"0015625","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"15625","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679569","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":79644,"name":"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency","type":"Disease"},{"orpha":79643,"name":"Autosomal recessive hyperinsulinism due to SUR1 deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}