{"orpha":480512,"name":"Idiopathic ductopenia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic adult ductopenia","IAD"],"definition":"A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480512/","orphanet_url":"https://www.orpha.net/en/disease/detail/480512","names":{"fr":{"name":"Ductopénie idiopathique","synonyms":["Ductopénie idiopathique de l'adulte"],"definition":"Maladie rare des voies biliaires caractérisée par la disparition perte des canaux biliaires interlobulaires à l'origine d'une cholestase chronique, sans cause connue. La disparition de moins de 50 % des canaux biliaires interlobulaires est associée à une évolution bénigne de la maladie, tandis que la disparition de la majorité des canaux entraîne une forme sévère, pouvant conduire à une cirrhose et à une insuffisance hépatique. Les patients sont généralement des adultes jeunes ou d'âge moyen, manifestent une jaunisse épisodique, un prurit et des enzymes hépatiques élevées."},"de":{"name":"Duktopenie, idiopathische","synonyms":["IAD","Idiopathische Duktopenie des Erwachsenen"],"definition":"Eine seltene Erkrankung der Gallenwege, die durch den Verlust der interlobulären Gallengänge gekennzeichnet ist und zu einer chronischen Cholestase führt, ohne dass eine Ursache bekannt ist. Der Verlust von weniger als 50 % der interlobulären Gallengänge geht mit einem milden Krankheitsverlauf einher, während der Verlust der Mehrheit der Gänge zu einer schweren Form führt, die möglicherweise eine Zirrhose und Leberversagen zur Folge hat. Die Patienten präsentieren sich typischerweise im jungen oder mittleren Erwachsenenalter mit episodischer Gelbsucht, Juckreiz und erhöhten Leberenzymen."},"es":{"name":"Ductopenia idiopática","synonyms":["Ductopenia idiopática del adulto"],"definition":"Es una enfermedad poco frecuente de las vías biliares caracterizada por la pérdida de los conductos biliares interlobulillares que produce colestasis crónica sin causa conocida. La pérdida de menos del 50% de los conductos se asocia con un curso leve de la enfermedad, mientras que la pérdida de la mayoría de los conductos da lugar a una forma grave que puede derivar en cirrosis e insuficiencia hepática. La enfermedad suele debutar en jóvenes o en adultos de edad media con ictericia episódica, prurito y elevación de las enzimas hepáticas."},"it":{"name":"Duttopenia idiopatica","definition":"Si tratta di una malattia rara delle vie biliari, caratterizzata dalla perdita dei dotti biliari interlobulari con conseguente colestasi cronica. L'eziologia non è nota. La perdita inferiore al 50% dei dotti biliari interlobulari si associa a un decorso lieve della malattia, mentre la perdita della maggior parte dei dotti determina una forma grave, che può esitare nella cirrosi e nell'insufficienza epatica. Di solito la malattia colpisce i giovani adulti o gli adulti di mezza età, che presentano ittero episodico, prurito e livelli elevati degli enzimi epatici."},"nl":{"name":"Idiopathische ductopenie","synonyms":["IAD","Idiopathische ductopenie bij volwassenen"],"definition":"Een zeldzame aandoening van galwegen, gekarakteriseerd door verlies van interlobulaire galwegen met chronische cholestase tot gevolg, zonder enige gekende oorzaak. Verlies van minder dan 50% van de interlobulaire galwegen is geassocieerd met een mild ziekteverloop, terwijl verlies van een meerderheid van de galwegen resulteert in een ernstige vorm, die potentieel kan leiden tot cirrose en leverfalen. Patiënten presenteren zich doorgaans als jonge volwassenen of volwassenen van middelbare leeftijd met episodische geelzucht, pruritus, en verhoogde gehaltes van leverenzymen."},"pt":{"name":"Ductopenia idiopática"},"pl":{"name":"Duktopenia idiopatyczna","synonyms":["IAD","Idiopatyczna duktopenia dorosłych"]},"cs":{"name":"Idiopatická duktopenie","synonyms":["IAD","Idiopathic adult ductopenia","Idiopatická duktopenie v dospělosti"]},"uk":{"name":"Ідіопатична дуктопенія","synonyms":["IAD","Ідіопатична дуктопенія у дорослих"],"definition":"A rare biliary tract disease characterized by loss of interlobular bile ducts resulting in chronic cholestasis, without any known cause. Loss of less than 50% of interlobular bile ducts is associated with a mild disease course, while loss of the majority of ducts results in a severe form, potentially leading to cirrhosis and liver failure. Patients typically present as young or middle-aged adults with episodic jaundice, pruritus, and elevated liver enzymes."},"zh":{"name":"特发性胆管发育不良","synonyms":["特发性成人胆管发育不良"],"definition":"一种罕见的胆道疾病，其特点是没有任何已知原因的小叶间胆管缺失导致慢性胆汁淤积。轻度病程与缺失少于50%的小叶间胆管相关，而大部分胆管的缺失会导致重度疾病，可能导致肝硬化和肝衰竭。青年或中年患者一般表现为有偶发性黄疸、瘙痒和肝酶升高。"},"tr":{"name":"İdiyopatik duktopeni","synonyms":["IAD","İdiyopatik erişkin duktopeni"]}},"xrefs":[{"source":"ICD-10","code":"K83.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DC1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018807","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022230","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"32337312[PMID]_ORPHANET"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"32337312[PMID]"}],"phenotypes":null}