{"orpha":480506,"name":"Primary intrahepatic lithiasis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["PIHL","Primary hepatolithiasis"],"definition":"A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-480506/","orphanet_url":"https://www.orpha.net/en/disease/detail/480506","names":{"fr":{"name":"Lithiase intrahépatique primitive","synonyms":["Hépatolithiase primitive"],"definition":"Maladie rare des voies biliaires, caractérisée par la formation de calculs dans les canaux biliaires intrahépatiques sans cause connue, entraînant une stase biliaire et des épisodes cholangitiques récurrents. La maladie est rare dans le monde occidental mais fréquente en Asie orientale. Les patients se présentent généralement avant l'âge de quarante ans avec des douleurs dans le quadrant supérieur droit, un ictère et/ou de la fièvre. Les calculs sont généralement des calculs pigmentaires de bilirubinate de calcium et des bactéries sont présentes dans la bile dans presque tous les cas. Les complications sont les sténoses biliaires, les abcès hépatiques, la fibrose hépatique et la cirrhose biliaire secondaire. Une association avec le cholangiocarcinome a également été rapportée."},"de":{"name":"Intrahepatische Lithiasis, primäre","synonyms":["Hepatolithiasis, primäre","PIHL"],"definition":"Eine seltene Erkrankung der Gallenwege, die durch Steinbildung in den intrahepatischen Gallengängen ohne bekannte Ursache gekennzeichnet ist und zu Gallenstau und wiederholten cholangitischen Episoden führt. Die Erkrankung ist in der westlichen Welt selten, in Ostasien jedoch häufig. Die Patienten stellen sich in der Regel vor dem vierzigsten Lebensjahr mit Schmerzen im rechten oberen Quadranten, Gelbsucht und/oder Fieber vor. Bei den Steinen handelt es sich in der Regel um Kalziumbilirubinatsteine (Pigmentsteine), und in fast allen Fällen sind Bakterien in der Galle vorhanden. Zu den Komplikationen gehören Gallengangsstrikturen, Leberabszesse, Leberfibrose und sekundäre biliäre Zirrhose. Es wurde auch über einen Zusammenhang mit Cholangiokarzinomen berichtet."},"es":{"name":"Litiasis intrahepática primaria","synonyms":["Hepatolitiasis primaria","LIP"],"definition":"Es una enfermedad poco frecuente del tracto biliar caracterizada por la formación de cálculos dentro de los conductos biliares intrahepáticos sin causa conocida, que conduce a estasis biliar y episodios repetidos de colangitis. La entidad es infrecuente en Occidente pero frecuente en el este de Asia. La enfermedad suele presentarse antes de los cuarenta años de edad con dolor en el hipocondrio derecho, ictericia y/o fiebre. Los cálculos son habitualmente de bilirrubinato de calcio y hay bacterias presentes en la bilis en casi todos los casos. Las complicaciones incluyen estenosis biliar, absceso hepático, fibrosis hepática y cirrosis biliar secundaria. También se ha descrito la asociación con el colangiocarcinoma."},"it":{"name":"Litiasi intraepatica primitiva","definition":"Si tratta di una malattia rara delle vie biliari, caratterizzata dalla formazione di calcoli nei dotti biliari intraepatici, in assenza di una causa evidente, che esita nella stasi biliare e in episodi ripetuti di colangite. La malattia è rara in Occidente, ma è comune nell'Asia orientale. In genere l'esordio avviene prima dei quarant'anni con dolore nel quadrante destro superiore, ittero e/o febbre. I calcoli di solito sono composti da bilirubinato di calcio (pigmento). In quasi tutti i pazienti sono presenti batteri nella bile. Le complicanze comprendono la stenosi biliare, gli ascessi epatici, la fibrosi epatica e la cirrosi biliare secondaria. Può associarsi al colangiocarcinoma."},"nl":{"name":"Primaire intrahepatische lithiasis","synonyms":["PIHL"],"definition":"Een zeldzame aandoening van galwegen, gekarakteriseerd door steenvorming in intrahepatische galwegen zonder enige gekende oorzaak, wat leidt tot cholestase en herhaaldelijke cholangitische episodes. De aandoening is zeldzaam in Westerse landen maar komt vaak voor in Oost-Azië. Patiënten presenteren zich meestal voor de leeftijd van 40 jaar met pijn in rechter bovenkwadrant van abdomen, geelzucht en/of koorts. Stenen zijn doorgaans van calciumbilirubinaat (pigment), en in nagenoeg alle gevallen zijn bacteriën aanwezig in gal. Complicaties zijn biliaire strictuur, abces van lever, leverfibrose, en secondaire biliaire cirrose. Associatie met cholangiocarcinoom werd ook reeds gerapporteerd."},"pt":{"name":"Lítiase intrahepática primária"},"pl":{"name":"Pierwotna kamica wewnątrzwątrobowa","synonyms":["PIHL"]},"cs":{"name":"Primární intrahepatální lithiáza","synonyms":["PIHL","Primary hepatolithiasis","Primární hepatolithiáza"]},"uk":{"name":"Первинний внутрішньопечінковий літіаз","synonyms":["PIHL","Первинний гепатолітіаз"],"definition":"A rare biliary tract disease characterized by stone formation within the intrahepatic bile ducts without any known cause, leading to bile stasis and repeated cholangitic episodes. The condition is rare in the Western world but frequent in eastern Asia. Patients usually present before the age of forty with right upper quadrant pain, jaundice, and/or fever. Stones are typically calcium bilirubinate (pigment) stones, and bacteria are present in the bile in almost all cases. Complications are biliary strictures, liver abscess, liver fibrosis, and secondary biliary cirrhosis. Association with cholangiocarcinoma has also been reported."},"zh":{"name":"原发性肝内结石","synonyms":["原发性肝内胆管结石病"],"definition":"一种罕见的胆道疾病，其特征是没有任何已知原因的肝内胆管结石形成，导致胆汁淤积和反复胆管炎发作。本病在西方罕见，但在亚洲东部多见。患者通常在四十岁之前出现右上腹疼痛、黄疸和（或）发热。结石通常是胆红素钙（色素）结石，几乎所有病例的胆汁中都存在细菌。并发症为胆道狭窄、肝脓肿、肝纤维化和继发性胆汁性肝硬化。也有报道与胆管癌有关。"},"tr":{"name":"Primer intrahepatik litiyazis","synonyms":["PIHL","primer hepatolithiasis"]}},"xrefs":[{"source":"ICD-10","code":"K80.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DC11.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018806","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5576557","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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}