{"orpha":276603,"name":"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"],"definition":"A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276603/","orphanet_url":"https://www.orpha.net/en/disease/detail/276603","names":{"fr":{"name":"Hyperinsulinisme focal résistant au diazoxide par déficit en Kir6.2","synonyms":["Hypoglycémie hyperinsulinémique par déficit en Kir6.2, forme focale résistante au diazoxide"],"definition":"Hyperinsulinisme congénital isolé rare caractérisé par des épisodes récurrents d'hypoglycémie hyperinsulinémique ne répondant pas au diazoxide, résultant d'une sécrétion excessive d'insuline par les cellules bêta du pancréas due à un déficit en Kir6.2. L'hypoglycémie peut entraîner des manifestations cliniques variables, allant d'une hypoglycémie asymptomatique, révélée par une surveillance systématique de la glycémie, à une macrosomie du nouveau-né, une hépatomégalie légère ou modérée et au coma hypoglycémique ou à l'état de mal épileptique engageant le pronostic vital du patient, avec pour conséquence des séquelles neurologiques."},"de":{"name":"Hyperinsulinismus, fokaler, Diazoxid-resistenter, durch Kir6.2-Mangel","synonyms":["Hypoglykämie, hyperinsulinämische, durch Kir6.2-Mangel, Diazoxid-resistente fokale Form"]},"es":{"name":"Hiperinsulinismo focal resistente al diazóxido por deficiencia de Kir6.2","synonyms":["Hipoglucemia hiperinsulinémica por deficiencia de Kir6.2 resistente al diazóxido"],"definition":"Es un trastorno de hiperinsulinismo congénito aislado y poco frecuente caracterizado por episodios recurrentes de hipoglucemia hiperinsulinémica que no responden al diazóxido como resultado de una secreción excesiva de insulina por las células beta-pancreáticas por deficiencia de Kir6.2. La hipoglucemia puede conducir a manifestaciones clínicas variables, que varían desde hipoglucemia asintomática, revelada por la determinación rutinaria de la glucosa en sangre hasta macrosomía al nacimiento, hepatomegalia de leve a moderada y coma hipoglucémico potencialmente mortal o estatus epiléptico, lo que conduce a un mal pronóstico neurológico."},"it":{"name":"Iperinsulinismo focale resistente al diazossido da deficit di Kir6.2","synonyms":["Ipoglicemia iperinsulinemica da deficit di Kir6.2, forma focale resistente al diazossido"],"definition":"È un iperinsulinismo congenito isolato raro, caratterizzato da episodi ricorrenti di ipoglicemia iperinsulinemica che non risponde al diazossido e causa un'ipersecrezione di insulina da parte delle cellule beta del pancreas, da deficit di Kir6.2. L'ipoglicemia causa sintomi clinici variabili, che comprendono l'ipoglicemia asintomatica evidenziata dal monitoraggio routinario del glucosio nel sangue, fino alla macrosomia congenita, l'epatomegalia moderata e il coma ipoglicemico potenzialmente letale o lo stato epilettico, che a loro volta comportano un esito neurologico sfavorevole."},"nl":{"name":"Diazoxideresistent focaal hyperinsulinisme door Kir6.2-deficiëntie","synonyms":["Hyperinsulinemische hypoglycemie door Kir6.2-deficiëntie, diazoxideresistente focale vorm"],"definition":"Een zeldzaam, congenitaal, geïsoleerd hyperinsulinisme dat gekarakteriseerd wordt door recurrente episodes met hyperinsulinemische hypoglycemie die ongevoelig zijn voor diazoxide en te wijten zijn aan overmatige secretie van insuline door de bètacellen van de pancreas als gevolg van Kir6.2-deficiëntie. Hypoglycemie kan leiden tot variabele klinische manifestaties, gaande van asymptomatische hypoglycemie die wordt ontdekt bij routineuze analyse van glucose in het bloed, tot macrosomie bij de geboorte, milde tot matige hepatomegalie en levensbedreigende hypoglycemische coma of status epilepticus, met als gevolg een ongunstige neurologische uitkomst."},"pt":{"name":"Hiperinsulinismo focal resistente ao diazóxido por deficiência de Kir6.2"},"pl":{"name":"Hiperinsulinizm ogniskowy oporny na diazoksyd z powodu niedoboru Kir6.2","synonyms":["Hipoglikemia hiperinsulinemiczna z powodu niedoboru Kir6.2, postać ogniskowa oporna na diazoksyd"]},"cs":{"name":"Diazoxid-rezistentní fokální hyperinzulinismus způsobený deficitem Kir6.2","synonyms":["Hyperinzulinemická hypoglykémie způsobená deficitem Kir6.2, diazoxid-rezistentní fokální forma"]},"uk":{"name":"Діазоксидрезистентний фокальний гіперінсулінізм, зумовлений дефіцитом Kir6.2","synonyms":["Гіперінсулінемічна гіпоглікемія внаслідок дефіциту Kir6.2, діазоксирезистентна фокальна форма"],"definition":"A rare, congenital, isolated hyperinsulinism disorder characterized by diazoxide unresponsive recurrent episodes of hyperinsulinemic hypoglycemia resulting from an excessive insulin secretion by the pancreatic bêta-cells due to Kir6.2 deficiency. Hypoglycemia may lead to variable clinical manifestation, ranging from asymptomatic hypoglycemia revealed by routine blood glucose monitoring to macrosomia at birth, mild to moderate hepatomegaly and life-threatening hypoglycemic coma or status epilepticus, further leading to poor neurological outcome."},"zh":{"name":"Kir6.2缺乏所致抗二氮嗪局灶性高胰岛素血症","synonyms":["Kir6.2缺乏所致抗二氮嗪局灶性高胰岛素低血糖血症"],"definition":"Kir6.2缺陷所致二氧化氮耐药局灶性高胰岛素血症是一种罕见的先天性孤立性高胰岛素血症，其特征是由于Kir6.2缺乏导致胰腺β细胞分泌过多胰岛素，引起对二氮嗪治疗无反的反复发作的高胰岛素血症性低血糖。低血糖症的临床表现各异，从常规血糖监测时发现的无症状性低血糖症到出生时巨大儿，轻至中度肝肿大和危及生命的低血糖昏迷或癫痫持续状态，进一步导致不良神经预后。"},"tr":{"name":"Kir6.2 eksikliğine bağlı diazoksite dirençli fokal hiperinsülinizm","synonyms":["Kir6.2 eksikliğine bağlı hiperinsülinemik hipoglisemi, diazoksite dirençli fokal form"]}},"xrefs":[{"source":"OMIM","code":"601820","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E16.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A45","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017188","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191060","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":79298,"name":"Diazoxide-resistant focal hyperinsulinism","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"KCNJ11","name":"potassium inwardly rectifying channel subfamily J member 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21967988[PMID]","hgnc":"6257","ensembl":"ENSG00000187486","omim":"600937","loci":["11p15.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}