{"orpha":93126,"name":"Pauci-immune glomerulonephritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abnormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and distinguished by the absence of immune deposits on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93126/","orphanet_url":"https://www.orpha.net/en/disease/detail/93126","names":{"fr":{"name":"Glomérulonéphrite pauci-immune","definition":"Vasculite rare des petits vaisseaux associée à une glomérulonéphrite (GN) rapidement progressive et caractérisée cliniquement par des signes d'atteinte rénale, tels que des anomalies urinaires (hématurie et/ou protéinurie) et une hypertension conduisant à une insuffisance rénale en quelques jours ou semaines, et se distinguant par l'absence de dépôts immuns en immunofluorescence. La maladie peut être limitée aux reins ou faire partie d'une vascularite systémique nécrosante des vaisseaux de petit calibre."},"de":{"name":"Glomerulonephritis, pauci-immune","definition":"Eine seltene Vaskulitis der kleinen Gefäße, die mit einer rasch fortschreitenden Glomerulonephritis (GN) einhergeht und klinisch durch Nierenmanifestationen wie Urinabnormalitäten (Hämaturie und/oder Proteinurie) und Bluthochdruck gekennzeichnet ist, die innerhalb von Tagen oder Wochen zu Nierenversagen führen. Die Krankheit kann als auf die Nieren begrenzte Erkrankung oder als Bestandteil einer systemischen nekrotisierenden Vaskulitis der kleinen Gefäße auftreten."},"es":{"name":"Glomerulonefritis pauciinmune","definition":"Es una vasculitis de vasos pequeños poco frecuente asociada a glomerulonefritis (GN) rápidamente progresiva y caracterizada clínicamente por manifestaciones renales como anomalías urinarias (hematuria y/o proteinuria) e hipertensión que conduce a insuficiencia renal en días o semanas, así como por la ausencia de depósitos inmunitarios en estudios de microscopía inmunofluorescente. La enfermedad puede ocurrir como una enfermedad renal limitada o como un componente de la vasculitis necrotizante y sistémica de pequeños vasos."},"it":{"name":"Glomerulonefrite pauci-immune","definition":"Si tratta di una vasculite rara dei piccoli vasi, associata a glomerulonefrite (GN) a progressione rapida; clinicamente è caratterizzata da sintomi renali che comprendono le anomalie urinarie (ematuria e/o proteinuria) e l'ipertensione, che esitano nell'insufficienza renale nell'arco di alcuni giorni o settimane. Si caratterizza anche per l'assenza di depositi immuni alla microscopia a immunofluorescenza. La malattia può interessare solo i reni, oppure rientrare nel quadro di una vasculite sistemica necrotizzante dei piccoli vasi."},"nl":{"name":"Pauci-immune glomerulonefritis","definition":"Een zeldzame vasculitis van kleine bloedvaten, geassocieerd met snel progressieve glomerulonefritis (GN), klinisch gekarakteriseerd door manifestaties van nier zoals anomalieën van urinewegen (hematurie en/of proteïnurie) en hypertensie die binnen enkele dagen tot weken leiden tot nierfalen, en te onderscheiden door afwezigheid van immunologische afzettingen op immunofluorescentiemicroscopie. De ziekte kan voorkomen als ziekte beperkt tot nier of als een component van systemische necrotiserende vasculitis van kleine bloedvaten."},"pt":{"name":"Glomerulonefrite pauci-imune"},"pl":{"name":"Skąpoimmunologiczne zapalenie kłębuszków nerkowych"},"cs":{"name":"Pauciimunní glomerulonefritida"},"uk":{"name":"Паукоімунний гломерулонефрит","definition":"A rare small vessel vasculitis associated with rapidly progressive glomerulonephritis (GN) and clinically characterized by renal manifestations such as urinary abnormalities (hematuria and/or proteinuria) and hypertension leading to renal failure within days or weeks, and distinguished by the absence of immune deposits on immunofluorescent microscopy. The disease can occur as a renal-limited disease or as a component of systemic necrotizing small-vessel vasculitis."},"zh":{"name":"寡免疫复合物型肾小球肾炎","definition":"一种罕见的小血管血管炎，与急进性肾小球肾炎（GN）相关，临床表现为肾脏方面异常（血尿和/或蛋白尿）和高血压，可在数天或数周内导致肾衰竭，通过免疫荧光显微镜下免疫沉淀物的缺失来辨别。该疾病可作为仅肾脏受累疾病或全身性坏死性小血管血管炎的一部分发生。"},"tr":{"name":"Pauci-immün glomerülonefrit"}},"xrefs":[{"source":"ICD-10","code":"N01.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MF84","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1359757645"},{"source":"MONDO","code":"0019641","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0343196","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":567560,"name":"Systemic vasculitis associated with glomerulopathy","classifications":[188,233]}],"children":[{"orpha":97563,"name":"Pauci-immune glomerulonephritis with ANCA","type":"Clinical subtype"},{"orpha":97564,"name":"Pauci-immune glomerulonephritis without ANCA","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_Dr Laure-Hélène NOEL[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-02","source":"28842398[PMID]_32491362[PMID]_25669759[PMID]_28613478[PMID]","terms":[{"hpo":"HP:0000099","label":"Glomerulonephritis","frequency":"Obligate (100%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0032230","label":"Cytoplasmic antineutrophil antibody positivity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012213","label":"Decreased glomerular filtration rate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011944","label":"Small vessel vasculitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008653","label":"Crescentic glomerulonephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000096","label":"Glomerulosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004930","label":"Abnormality of the pulmonary vasculature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002087","label":"Abnormality of the upper respiratory tract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012089","label":"Arteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002829","label":"Arthralgia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012735","label":"Cough","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012593","label":"Nephrotic range proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040223","label":"Pulmonary hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000979","label":"Purpura","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001626","label":"Abnormality of the cardiovascular system","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0032018","label":"Multiple mononeuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000155","label":"Oral ulcer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100532","label":"Scleritis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002955","label":"Granulomatosis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0032616","label":"Renal interstitial immunoglobulin deposits","frequency":"Excluded (0%)","criteria":null}]}}