{"orpha":95409,"name":"Acute adrenal insufficiency","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Acute adrenal failure","Acute adrenocortical insufficiency","Addisonian crisis","Adrenal crisis","Adrenocortical crisis"],"definition":"A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95409/","orphanet_url":"https://www.orpha.net/en/disease/detail/95409","names":{"fr":{"name":"Insuffisance surrénalienne aiguë","synonyms":["Crise addisonienne","Crise cortico-surrénalienne","Crise corticosurrénalienne","Crise surrénalienne","Insuffisance cortico-surrénale aiguë","Insuffisance cortico-surrénalienne aiguë","Insuffisance corticosurrénale aiguë","Insuffisance corticosurrénalienne aiguë","Insuffisance surrénale aiguë"],"definition":"Insuffisance surrénalienne primaire due à un défaut soudain de production de stéroïdes surrénaliens (cortisol et aldostérone). Il s'agit d'une situation d'urgence médicale, c'est pourquoi une suspicion précoce et un traitement rapide sont essentiels à la survie, même avant que le diagnostic ne soit posé."},"de":{"name":"Nebenniereninsuffizienz, akute","synonyms":["Addison-Krise","Akute Nebennierenrindeninsuffizienz","Nebennierenkrise","Nebennierenrindenkrise","Nebennierenversagen, akutes"],"definition":"Eine primäre Nebenniereninsuffizienz, die durch eine plötzliche mangelhafte Produktion von Nebennierensteroiden (Cortisol und Aldosteron) verursacht wird. Sie stellt einen Notfall dar, so dass die rasche Erkennung und sofortige Therapie bereits vor der Diagnose überlebenswichtig sind."},"es":{"name":"Insuficiencia suprarrenal aguda","synonyms":["Fallo suprarrenal agudo","Insuficiencia adrenocortical aguda","Crisis corticosuprarrenal","Crisis de Addison","Crisis suprarrenal"],"definition":"Es una insuficiencia suprarrenal primaria causada por una producción defectuosa y repentina de esteroides suprarrenales (cortisol y aldosterona). Representa una urgencia médica, por lo que la pronta sospecha y el tratamiento rápido resultan claves para la supervivencia, incluso antes de que se realice el diagnóstico."},"it":{"name":"Insufficienza surrenalica acuta","synonyms":["Crisi addisoniana","Crisi adrenocorticale","Crisi surrenalica","Insufficienza acuta dei surreni","Insufficienza adrenocorticale acuta"],"definition":"L'insufficienza surrenale acuta (AAI) è un'insufficienza primaria causata da un'improvvisa produzione deficitaria di steroidi surrenali (cortisolo e aldosterone). Rappresenta un'urgenza, in quanto il riconoscimento rapido e un trattamento tempestivo sono fondamentali per la sopravvivenza, anche prima che venga posta la diagnosi."},"nl":{"name":"Acute adrenale insufficiëntie","synonyms":["Acute adrenocorticale insufficiëntie","Acute bijnierinsufficiëntie","Acute bijnierschorsinsufficiëntie","Acuut bijnierfalen","Addisoniaanse crisis","Adrenocorticale crisis","Bijniercrisis"],"definition":"Een primaire bijnierschorsinsufficiëntie, veroorzaakt door een plots gebrekkige productie van adrenale steroïden (cortisol en aldosteron). Het gaat om een noodgeval, dus snelle herkenning en directe behandeling zijn essentieel voor overleving, zelfs alvorens de diagnose wordt gesteld."},"pt":{"name":"Insuficiência supra-renal aguda","synonyms":["Crise addisoniana","Crise supra-renal"],"definition":"A insuficiência supra-renal aguda (AAI) é uma doença rara, grave, causada por quebra repentina na produção de esteróides da supra-renal (cortisol e aldosterona). Representa uma emergência médica, pelo que o reconhecimento rápido e terapia imediata são fundamentais para a sobrevivência, mesmo antes do diagnóstico."},"pl":{"name":"Ostra niewydolność nadnerczy","synonyms":["Ostra niewydolność kory nadnerczy","Ostra niewydolność nadnerczy","Przełom addisonoidalny","Przełom korowo-nadnerczowy","Przełom nadnerczowy"]},"cs":{"name":"Akutní adrenální insuficience","synonyms":["Akutní selhání nadledvin","Akutní adrenokortikální insuficience","Addisonská krize","Adrenální krize","Adrenokortikální krize"]},"uk":{"name":"Гостра надниркова недостатність","synonyms":["Гостра надниркова недостатність","Гостра адренокортикальна недостатність","Аддісонова криза","Наднирниковий криз","Адренокортикальний криз"],"definition":"A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made."},"zh":{"name":"急性肾上腺皮质功能不全","synonyms":["急性肾上腺皮质功能减退"],"definition":"一种由突发性肾上腺类固醇（皮质醇和醛固酮）缺陷而引起的原发性肾上腺功能不全。它是一种急症，因此即使在确诊之前，快速识别和及时治疗对生存至关重要。"},"tr":{"name":"Akut adrenal yetmezlik","synonyms":["Adrenal kriz","Addison krizi","Akut adrenal yetmezlik","Adrenokortikal kriz","Akut adrenokortikal yetmezlik"]}},"xrefs":[{"source":"ICD-10","code":"E27.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A74.1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"114442391"},{"source":"MONDO","code":"0019801","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0151467","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10001389","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101958,"name":"Primary adrenal insufficiency","classifications":[193]}],"children":[{"orpha":319205,"name":"Bilateral massive adrenal hemorrhage","type":"Etiological subtype"},{"orpha":100067,"name":"Waterhouse-Friderichsen syndrome","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","Not applicable","X-linked dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-09-02","source":"20400889[PMID]_24695602[PMID]_25295623[PMID]_20399314[PMID]_15654180[PMID]_24613067[PMID]_23697517[PMID]_18000094[PMID]_16968806[PMID]_19574315[PMID]_15950720[PMID]_8614434[PMID]_11443143[PMID]","terms":[{"hpo":"HP:0008163","label":"Decreased circulating cortisol level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000953","label":"Hyperpigmentation of the skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011106","label":"Hypovolemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003154","label":"Increased circulating ACTH level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011948","label":"Acute respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008226","label":"Androgen insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004319","label":"Decreased circulating aldosterone level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012364","label":"Decreased urinary potassium","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002153","label":"Hyperkalemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005976","label":"Hyperkalemic metabolic acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002149","label":"Hyperuricemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000848","label":"Increased circulating renin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001897","label":"Normocytic anemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001278","label":"Orthostatic hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000127","label":"Renal salt wasting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030083","label":"Salt craving","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002215","label":"Sparse axillary hair","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null}]}}