{"orpha":235936,"name":"Familial hyperaldosteronism","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["FH"],"definition":"A group of rare primary aldosteronism characterized by hyperaldosteronism, hypertension, hypokalemia and low plasma renin activity. Clinical symptoms and their severity vary according to the type of hyperaldosteronism and may include abnormal production of 18-oxocortisol and 18-hydroxycortisol, headaches, nausea, fatigue, muscle weakness, cardiovascular complications due to aldosterone excess, polydipsia, polyuria, bilateral adrenal hyperplasia, developmental delay, learning disabilities and behavioral abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-235936/","orphanet_url":"https://www.orpha.net/en/disease/detail/235936","names":{"fr":{"name":"Hyperaldostéronisme familial","synonyms":["FH"],"definition":"Groupe d'aldostéronisme primitif rare caractérisé par un hyperaldostéronisme, une hypertension, une hypokaliémie et une faible activité de la rénine plasmatique. Les signes cliniques et leur gravité varient selon le type d'hyperaldostéronisme et peuvent inclure une production excessive de 18-oxocortisol et de 18-hydroxycortisol, des maux de tête, des nausées, une fatigue, une faiblesse musculaire, des complications cardiovasculaires dues à un excès d'aldostérone, une polydipsie, une polyurie, une hyperplasie bilatérale des surrénales, un retard de développement, des troubles de l'apprentissage et des troubles comportementaux."},"de":{"name":"Hyperaldosteronismus, familiärer","synonyms":["FH"],"definition":"Eine Gruppe von Störungen, die durch Hyperaldosteronismus, Bluthochdruck, Hypokaliämie und niedrige Plasma-Renin-Aktivität gekennzeichnet ist. Die klinischen Symptome und ihr Schweregrad variieren je nach Art des Hyperaldosteronismus und können eine abnorme Produktion von 18-Oxocortisol und 18-Hydroxycortisol, Kopfschmerzen, Übelkeit, Müdigkeit, Muskelschwäche, kardiovaskuläre Komplikationen aufgrund eines Aldosteronüberschusses, Polydipsie, Polyurie, bilaterale Nebennierenhyperplasie, Entwicklungsverzögerungen, Lernbehinderungen und Verhaltensauffälligkeiten umfassen."},"es":{"name":"Hiperaldosteronismo familiar","synonyms":["FH"],"definition":"Es un tipo de aldosteronismo primario poco frecuente caracterizado por hiperaldosteronismo, hipertensión, hipopotasemia y baja actividad de la renina plasmática. Los síntomas clínicos y su gravedad varían según el tipo de hiperaldosteronismo y pueden incluir producción anómala de 18-oxocortisol y 18-hidroxicortisol, cefalea, náuseas, cansancio, debilidad muscular, complicaciones cardiovasculares por exceso de aldosterona, polidipsia, poliuria, hiperplasia suprarrenal bilateral, retraso del desarrollo, trastornos de aprendizaje y alteraciones de la conducta."},"it":{"name":"Iperaldosteronismo familiare","synonyms":["FH"]},"nl":{"name":"Familiaal hyperaldosteronisme","synonyms":["FH"],"definition":"Een groep van vormen van zeldzaam primair aldosteronisme, gekenmerkt door hyperaldosteronisme, hypertensie, hypokaliëmie en lage activiteit van renine in plasma. Klinische symptomen en de ernst ervan variëren naargelang het type hyperaldosteronisme, en zijn onder meer abnormale productie van 18-oxocortisol en 18-hydroxycortisol, hoofdpijn, misselijkheid, vermoeidheid, spierzwakte, cardiovasculaire complicaties door overmaat van aldosteron, polydipsie, polyurie, bilaterale adrenale hyperplasie, ontwikkelingsachterstand, leerstoornissen en gedragsafwijkingen."},"pt":{"name":"Hiperaldosteronismo familiar"},"pl":{"name":"Rodzinny hiperaldosteronizm","synonyms":["FH"],"definition":"Grupa rzadkich pierwotnych hiperaldosteronizmów, które charakteryzują się hiperaldosteronizmem, nadciśnieniem, hipokaliemią i niską aktywnością reninową osocza. Objawy kliniczne i ich nasilenie różnią się w zależności od rodzaju hiperaldosteronizmu i mogą obejmować nieprawidłową produkcją 18-oksokortyzolu i 18-hydroksykortyzolu, bóle głowy, nudności, zmęczenie, osłabienie mięśni, powikłania sercowo-naczyniowe z powodu nadmiaru aldosteronu, polidypsję, poliurię, obustronny przerost nadnerczy, opóźnienie rozwoju, trudności w uczeniu się i zaburzenia zachowania."},"cs":{"name":"Familiární hyperaldosteronismus","synonyms":["FH"]},"uk":{"name":"Сімейний гіперальдостеронізм","synonyms":["FH"],"definition":"Familial hyperaldosteronism (FH) is the heritable form of primary aldosteronism (PA) which comprises three identified subtypes to date: FH type I (FH-I; see this term) characterized by early-onset hypertension, glucocorticoid remediable adrenocorticotropic hormone (ACTH)-dependent hyperaldosteronism, variable hypokalemia, and overproduction of 18-oxocortisol and 18-hydroxycortisol; FH type II (FH-II; see this term) characterized by hypertension of varying severity and hyperaldosteronism not suppressible by dexamethasone; and FH type III (FH-III; see this term) characterized by profound hypokalemia, early-onset severe hypertension, non glucocorticoid-remediable hyperaldosteronism, and overproduction of 18-oxocortisol and 18-hydroxycortisol."},"zh":{"name":"家族性醛固酮增多症","synonyms":["FH"],"definition":"家族性醛固酮增多症（FH）是原发性醛固酮增多症（PA）的遗传形式，包括当前已明确的的三种亚型：FH I型（FH-I；见该词条）特征为早发性高血压、糖皮质激素可治疗的促肾上腺皮质激素（ACTH）依赖性醛固酮增多症、表现可变的低钾血症，以及18-氧皮质激素和18-羟基皮质醇的过量生成；FH II型（FH-II；见该词条）特征为不同程度的高血压和地塞米松不能抑制的醛固酮增多；FH III型（FH-III；见该词条）特征为严重低钾血症、早发型严重高血，糖皮质激素治疗无效的醛固酮增多症，以及18-氧皮质激素和18-羟基皮质醇的过量生成。"},"tr":{"name":"Ailesel hiperaldosteronizm","synonyms":["FH"]}},"xrefs":[{"source":"MONDO","code":"0016525","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16525","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C580087","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3713420","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":371861,"name":"Genetic hyperaldosteronism","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]},{"orpha":231641,"name":"Rare non surgically correctable form of primary aldosteronism","classifications":[193]}],"children":[{"orpha":403,"name":"Familial hyperaldosteronism type I","type":"Disease"},{"orpha":404,"name":"Familial hyperaldosteronism type II","type":"Disease"},{"orpha":251274,"name":"Familial hyperaldosteronism type III","type":"Disease"},{"orpha":642671,"name":"Familial hyperaldosteronism type IV","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"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}