{"orpha":657,"name":"Congenital isolated hyperinsulinism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["PHHI","Persistent hyperinsulinemic hypoglycemia of infancy"],"definition":"A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-657/","orphanet_url":"https://www.orpha.net/en/disease/detail/657","names":{"fr":{"name":"Hyperinsulinisme congénital isolé","synonyms":["HHPE","Hyperinsulinisme congénital de l'enfant","Hypoglycémie hyperinsulinémique persistante de l'enfant"],"definition":"Maladie endocrinienne rare caractérisée par une sécrétion excessive ou incontrôlée d'insuline et des épisodes récurrents d'hypoglycémie pouvant entraîner des séquelles neurologiques en l'absence de traitement. On distingue deux formes de la maladie en fonction de la réponse au traitement de première ligne (hyperinsulinisme sensible au diazoxide et hyperinsulinisme résistant au diazoxide) et trois formes histopathologiques (focale, diffuse et atypique). Les formes focales ne sont observées qu'en cas de début précoce de la maladie chez des patients qui ne répondent pas au diazoxide."},"de":{"name":"Hyperinsulinismus, isolierter, kongenitaler","synonyms":["CHI","Hyperinsulinämische Hypoglykämie der Kindheit, persistierende Form","PHHI"],"definition":"Eine seltene endokrine Erkrankung, die durch eine übermäßige oder unkontrollierte Insulinsekretion und wiederkehrende Episoden von Hypoglykämie gekennzeichnet ist und unbehandelt zu neurologischen Folgen führen kann. Je nach Ansprechen auf die Erstlinienbehandlung werden zwei Formen unterschieden: Diazoxid-sensitiver und Diazoxid-resistenter Hyperinsulinismus sowie drei histopathologische Formen: fokale, diffuse und atypische Formen. Fokale Formen werden nur bei frühen Fällen von Patienten beobachtet, die auf Diazoxid nicht ansprechen."},"es":{"name":"Hiperinsulinismo congénito aislado","synonyms":["CHI","Hipoglucemia hiperinsulinémica persistente infantil","PHHI"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por una secreción excesiva o desregulada de insulina y episodios recurrentes de hipoglucemia que, sin tratamiento, pueden provocar secuelas neurológicas. Se distinguen dos formas en base a la respuesta al tratamiento de primera línea: hiperinsulinismo sensible al diazóxido e hiperinsulinismo resistente al diazóxido; y tres formas histopatológicas: focal, difusa y atípica. La forma focal sólo se observa en casos de inicio precoz de pacientes resistentes al diazóxido."},"it":{"name":"Iperinsulinismo isolato congenito","synonyms":["CHI","Ipoglicemia iperinsulinemica persistente neonatale","PHHI"]},"nl":{"name":"Congenitaal geïsoleerd hyperinsulinisme","synonyms":["CHI","PHHI","Persistente hyperinsulinemische hypoglycemie op vroege leeftijd"],"definition":"Een zeldzame endocriene aandoening, gekenmerkt door excessieve of ongecontroleerde secretie van insuline en recidiverende episodes van hypoglycemie die zonder behandeling kunnen resulteren in neurologische restverschijnselen. Er zijn twee vormen naargelang de respons op eerstelijnsbehandeling, zijnde diazoxidesensitief en diazoxideresistent hyperinsulinisme, en drie histopathologische vormen, met name focale, diffuse en atypische vormen. Focale vormen worden enkel waargenomen bij vroeg optredende gevallen van diazoxideresistente patiënten."},"pt":{"name":"Hiperinsulinismo isolado congénito","synonyms":["Hipoglicemia hiperinsulinemica persistente do lactente"],"definition":"Doença endócrinológica rara caracterizada por secreção excessiva ou descontrolada de insulina e episódios recorrentes de hipoglicemia que podem resultar em sequelas neurológicas caso não sejam tratadas. Existem duas formas, classificadas de acordo com a resposta ao tratamento de primeira linha: hiperinsulinismo sensível ao diazóxido e hiperinsulinismo resistente ao diazóxido; e três formas histopatológicas: formas focais, difusas e atípicas. As formas focais são observadas apenas nos casos com início precoce em que não existe resposta ao diazóxido."},"pl":{"name":"Wrodzony izolowany hiperinsulinizm","synonyms":["CHI","PHHI","Przetrwała hipoglikemia hiperinsulinemiczna dzieci"]},"cs":{"name":"Vrozený izolovaný hyperinzulinismus","synonyms":["CHI","PHHI","Perzistující hyperinzulinemická hypoglykémie kojenců"]},"uk":{"name":"Вроджений ізольований гіперінсулінізм","synonyms":["Персистуюча гіперінсулінемічна гіпоглікемія немовлят","PHHI"],"definition":"A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients."},"zh":{"name":"先天性孤立型高胰岛素血症","synonyms":["婴儿持续高胰岛素血性低血糖"]},"tr":{"name":"Doğumsal izole hiperinsülinizm","synonyms":["CHI","PHHI","Bebeklik dönemi kalıcı hiperinsülinemik hipoglisemi"]}},"xrefs":[{"source":"MONDO","code":"0019010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19010","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D044903","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3888018","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3947","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":276525,"name":"Familial hyperinsulinism","classifications":[156,193]},{"orpha":91088,"name":"Other metabolic disease","classifications":[150,156]}],"children":[{"orpha":276585,"name":"Diazoxide-resistant hyperinsulinism","type":"Clinical group"},{"orpha":165985,"name":"Diazoxide-sensitive diffuse hyperinsulinism","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.24,"area":"Czech Republic","status":"Validated","source":"26431509[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.25,"area":"Japan","status":"Validated","source":"31742894[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.52,"area":"United Kingdom","status":"Validated","source":"32027664[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Netherlands","status":"Validated","source":"14518075[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":40.0,"area":"Saudi Arabia","status":"Validated","source":"21967988[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.67,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":23.2,"area":"China","status":"Validated","source":"34103049[PMID]"}],"phenotypes":null}