{"orpha":567983,"name":"Parenteral nutrition-associated cholestasis","type":"Particular clinical situation in a disease or syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["PNAC"],"definition":"A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-567983/","orphanet_url":"https://www.orpha.net/en/disease/detail/567983","names":{"fr":{"name":"Cholestase liée à la nutrition parentérale","synonyms":["PNAC"],"definition":"Maladie hépatique rare caractérisée par une cholestase intrahépatique et une détérioration de la fonction hépatique chez les patients recevant une nutrition parentérale pendant des périodes prolongées (les signes peuvent apparaître dès les deux premières semaines du début de la nutrition parentérale). La maladie est fréquente chez les nouveau-nés et disparaît généralement avec le passage à l'alimentation entérale, bien que les cas graves puissent évoluer vers une fibrose hépatique, une cirrhose et une hypertension portale."},"de":{"name":"Parenterale Ernährung-assoziierte Cholestase","synonyms":["PNAC"],"definition":"Eine seltene Lebererkrankung, die durch intrahepatische Cholestase und eine Verschlechterung der Leberfunktion bei Patienten gekennzeichnet ist, die über einen längeren Zeitraum parenteral ernährt werden (Anzeichen können bereits innerhalb der ersten zwei Wochen nach Beginn der parenteralen Ernährung auftreten). Die Erkrankung tritt häufig bei Neugeborenen auf und verschwindet in der Regel mit der Umstellung auf enterale Ernährung, obwohl schwere Fälle zu Leberfibrose, Zirrhose und portaler Hypertension fortschreiten können."},"es":{"name":"Colestasis asociada a nutrición parenteral","synonyms":["CANPT"],"definition":"Es una enfermedad hepática poco frecuente, caracterizada por colestasis intrahepática y deterioro de la función hepática en pacientes que han recibido nutrición parenteral durante períodos prolongados de tiempo (los signos pueden aparecer a partir de las dos primeras semanas del inicio de la nutrición parenteral). La afectación ocurre con frecuencia en neonatos, remitiendo, por lo general, con la transición a la alimentación enteral, aunque los casos graves pueden progresar a fibrosis hepática, cirrosis e hipertensión portal."},"it":{"name":"Colestasi da nutrizione parenterale","synonyms":["PNAC"],"definition":"Si tratta di un'epatopatia rara, caratterizzata da colestasi intraepatica e dal deterioramento della funzionalità epatica nei pazienti sottoposti a nutrizione parenterale per lunghi periodi di tempo (i segni clinici possono manifestarsi già nelle prime due settimane dall'avvio della nutrizione parenterale). Di solito la malattia colpisce i neonati e si risolve con il passaggio all'alimentazione enterale ma, nei casi più gravi, può progredire verso la fibrosi epatica, la cirrosi e l'ipertensione portale."},"nl":{"name":"Cholestase geassocieerd met parenterale voeding","synonyms":["PNAC"],"definition":"Een zeldzame aandoening van lever, gekarakteriseerd door intrahepatische cholestase en achteruitgang van leverfunctie bij patiënten die gedurende langere tijd parenterale voeding toegediend krijgen (verschijnselen kunnen reeds verschijnen tijdens de eerste twee weken na initiatie van parenterale voeding). De aandoening komt doorgaans voor bij neonaten en verdwijnt meestal na overgang naar enterale voeding, hoewel ernstige gevallen mogelijk evolueren naar leverfibrose, cirrose, en portale hypertensie."},"pt":{"name":"Colestase associada a nutrição parentérica"},"pl":{"name":"Żywienie parenteralne z towarzyszacą cholestazą","synonyms":["PNAC"]},"cs":{"name":"Cholestáza spojená s parenterální výživou","synonyms":["PNAC"]},"uk":{"name":"Парентеральний холестаз, асоційований з харчуванням","synonyms":["PNAC"],"definition":"A rare hepatic disease characterized by intrahepatic cholestasis and deterioration of liver function in patients receiving parenteral nutrition for extended periods of time (signs may appear as early as within the first two weeks of initiation of parenteral nutrition). The condition commonly occurs in neonates and usually resolves with transition to enteral feeding, although severe cases may progress to liver fibrosis, cirrhosis, and portal hypertension."},"zh":{"name":"肠外营养相关的胆汁淤积症","synonyms":["PNAC"]},"tr":{"name":"Parenteral beslenme-ilişkili kolestaz","synonyms":["PNAC"]}},"xrefs":[{"source":"ICD-10","code":"K76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DB99.60","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1572634308"},{"source":"MONDO","code":"35777","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3274301","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10074151","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":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-30","source":"31872510[PMID]_32728621[PMID]","terms":[{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004359","label":"Abnormal circulating fatty-acid concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032245","label":"Abnormal metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011113","label":"Abnormality of cytokine secretion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006560","label":"Biliary hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011473","label":"Villous atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Occasional (29-5%)","criteria":null}]}}