{"orpha":447764,"name":"IgG4-related sclerosing cholangitis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-447764/","orphanet_url":"https://www.orpha.net/en/disease/detail/447764","names":{"fr":{"name":"Cholangite sclérosante à IgG4","definition":"Maladie systémique auto-immune rare caractérisée par une cholestase et des anomalies diffuses avec un épaississement circulaire et symétrique de la paroi des voies biliaires mises en évidence par cholangiographie, et des taux élevés d'IgG4 sériques. L'histopathologie met typiquement en évidence une infiltration dense par des plasmocytes IgG4-positifs et une fibrose étendue de la paroi des voies biliaires. Une réponse marquée à la corticothérapie est caractéristique. Les patients présentent un ictère, une cholangite, un prurit, parfois en association avec des signes de pancréatite auto-immune, de sialadénite et de fibrose rétropéritonéale."},"de":{"name":"IgG4-assoziierte sklerosierende Cholangitis","definition":"Eine seltene systemische Autoimmunerkrankung, die durch Cholestase und diffuse cholangiographische Anomalien mit zirkulärer und symmetrischer Verdickung der Gallengangswände sowie erhöhten IgG4-Serumspiegeln gekennzeichnet ist. Zu den charakteristischen histopathologischen Befunden gehören eine dichte Infiltration von IgG4-positiven Plasmazellen und eine ausgedehnte Fibrose in der Gallengangwand. Typisch ist ein deutliches Ansprechen auf eine Steroidtherapie. Die Patienten präsentieren sich mit Gelbsucht, Cholangitis, Pruritus und manchmal auch mit autoimmunen Pankreatitis, Sialadenitis und retroperitonealer Fibrose."},"es":{"name":"Colangitis esclerosante asociada a IgG4","definition":"Es una enfermedad autoinmune sistémica poco frecuente caracterizada por colestasis y anomalías colangiográficas difusas con engrosamiento circular y simétrico de la pared del conducto biliar y niveles elevados de IgG4 en suero. Los hallazgos histopatológicos característicos incluyen un infiltrado denso de células plasmáticas IgG4 positivas y fibrosis extensiva en la pared del conducto biliar. Por lo general, la respuesta a la terapia con esteroides es buena. Los pacientes se presentan con ictericia, colangitis, prurito y, a menudo, con hallazgos asociados con pancreatitis autoinmune, sialoadenitis y fibrosis retroperitoneal."},"it":{"name":"Colangite sclerosante IgG4-correlata","definition":"È una malattia sistemica autoimmune, caratterizzata da colestasi ed anomalie colangiografiche diffuse, con ispessimento circolare e simmetrico della parete delle vie biliari e livelli elevati di IgG4 nel siero. Gli esami istologici evidenziano una densa infiltrazione di plasmacellule positive per IgG4 e fibrosi diffusa della parete delle vie biliari. È tipica la marcata risposta alla terapia con steroidi. I pazienti presentano ittero, colangite, prurito e, occasionalmente, pancreatite autoimmune, scialoadenite e fibrosi retroperitoneale."},"nl":{"name":"IgG4-gerelateerde scleroserende cholangitis","definition":"Een zeldzame, systemische auto-immuunziekte gekarakteriseerd door cholestase en diffuse cholangiografische afwijkingen met circulaire en symmetrische verdikking van de wanden van de galwegen en verhoogde IgG4-gehaltes in het serum. Typische histopathologische bevindingen zijn onder meer dense infiltratie van IgG4-positieve plasmacellen en uitgebreide fibrose in de wanden van de galwegen. Een aanzienlijke reactie op steroïdtherapie is typisch. Patiënten vertonen geelzucht, cholangitis, pruritus, en soms geassocieerde bevindingen als auto-immune pancreatitis, sialoadenitis (speekselklierontsteking), en retroperitoneale fibrose."},"pt":{"name":"Colangite esclerosante IgG4-relacionada"},"pl":{"name":"Twardniające zapalenie dróg żółciowych związane z IgG4"},"cs":{"name":"IgG4-vázaná sklerotizující cholangitida"},"uk":{"name":"IgG4-асоційований склерозуючий холангіт","definition":"A rare systemic autoimmune disease characterized by cholestasis and diffuse cholangiographic abnormalities with circular and symmetrical bile duct wall thickening, and elevated serum IgG4 levels. Characteristic histopathological findings include dense infiltration of IgG4-positive plasma cells and extensive fibrosis in the bile duct wall. A marked response to steroid therapy is typical. Patients present with jaundice, cholangitis, pruritis, and sometimes associated findings of autoimmune pancreatitis, sialadenitis, and retroperitoneal fibrosis."},"zh":{"name":"IgG4相关硬化性胆管炎","definition":"一种罕见的全身性自身免疫疾病，其特征为胆汁淤积和弥散性胆管造影异常，圆形和对称胆管壁增厚，血清IgG4水平升高。特征性组织病理学发现包括IgG4阳性浆细胞的密集浸润和胆管壁广泛纤维化。对类固醇疗法有明显的反应。患者出现黄疸，胆管炎，瘙痒症，有时还伴有自身免疫性胰腺炎，涎腺炎和腹膜后纤维化的相关发现。"},"tr":{"name":"IgG4-ilişkili sklerozan kolanjit"}},"xrefs":[{"source":"ICD-10","code":"K83.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1676971795"},{"source":"MONDO","code":"0018645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302109","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":447771,"name":"Sclerosing cholangitis","classifications":[183,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}