{"orpha":54370,"name":"Primary membranoproliferative glomerulonephritis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mesangiocapillary glomerulonephritis","Primary MPGN"],"definition":"A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-54370/","orphanet_url":"https://www.orpha.net/en/disease/detail/54370","names":{"fr":{"name":"Glomérulonéphrite membranoproliférative primaire","synonyms":["Glomérulonéphrite mésangiocapillaire","MPGN primaire"],"definition":"Néphropathie glomérulaire rare caractérisée par une atteinte glomérulaire identifiée à la biopsie rénale et des modifications caractéristiques, visibles au microscope optique, à savoir : hypercellularité mésangiale, prolifération endocapillaire et épaississement de la membrane basale glomérulaire (MBG). L'immunofluorescence permet de différencier la glomérulopathie à dépôts de&#8239;C3 (GC3) de la glomérulonéphrite membranoproliférative médiée par les immunoglobulines. La microscopie électronique permet de distinguer deux autres catégories de&#8239;GC3&#8239;: la maladie de dépôt dense, avec des dépôts denses aux électrons dans la membrane basale glomérulaire, et la glomérulonéphrite à dépôts de C3, avec des dépôts mésangiaux, intramembranaires, sous-endothéliaux et sous-épithéliaux. Les causes secondaires (auto-immunes, infectieuses, tumeurs malignes) sont exclues."},"de":{"name":"Glomerulonephritis, membranoproliferative","synonyms":["Glomerulonephritis, mesangiokapilläre","MPGN, primär"],"definition":"Eine seltene glomeruläre Erkrankung, die durch ein Muster glomerulärer Schädigung bei der Nierenbiopsie mit charakteristischen lichtmikroskopischen Veränderungen gekennzeichnet ist: Hyperzellularität des Mesangiums, endokapilläre Proliferation und Verdickung der glomerulären Basalmembran (GBM). Anhand der Immunfluoreszenz (IF) wird die Erkrankung in C3-Glomerulopathie (C3G) oder immunglobulinvermittelte membranoproliferative Glomerulonephritis unterteilt. Elektronenmikroskopisch wird die C3G weiter unterteilt in die Dense-Deposit-Krankheit mit stark elektronenverdichteten Ablagerungen in der glomerulären Basalmembran und die C3-Glomerulonephritis mit mesangialen, intramembranösen, subendothelialen und subepithelialen Ablagerungen. Sekundäre Ursachen (Autoimmunerkrankungen, Infektionen, Malignome) sind ausgeschlossen."},"es":{"name":"Glomerulonefritis membranoproliferativa primaria","synonyms":["GNMP primaria","Glomerulonefritis mesangiocapilar"],"definition":"Es una enfermedad glomerular poco frecuente caracterizada por un patrón de lesión glomerular en la biopsia renal con cambios característicos detectables por microscopía óptica: hipercelularidad mesangial, proliferación endocapilar y engrosamiento de la membrana basal glomerular (MBG). En función de la inmunofluorescencia (IF), el trastorno se divide en glomerulopatía por C3 (GC3) o glomerulonefritis membranoproliferativa mediada por inmunoglobulinas. Mediante microscopía electrónica, la GC3 se divide a su vez en enfermedad por depósitos densos, con depósitos altamente electrodensos en la membrana basal glomerular, y glomerulonefritis por C3, con depósitos mesangiales, intramembranosos, subendoteliales y subepiteliales. Se excluyen las causas secundarias (autoinmunes, infecciosas, malignas)."},"it":{"name":"Glomerulonefrite membranoproliferativa primitiva","synonyms":["Glomerulonefrite mesangio-capillare","MPGN"],"definition":"Si tratta di una glomerulopatia rara, caratterizzata da un danno glomerulare evidente sulla biopsia renale. L'analisi al microscopio ottico evidenzia alcune alterazioni caratteristiche: ipercellularità mesangiale, proliferazione endocapillare e ispessimento della membrana basale glomerulare (GBM). In base all'immunofluorescenza (IF), la malattia viene suddivisa in glomerulopatia da C3 (C3G) e glomerulonefrite membranoproliferativa mediata dall'immunoglobulina. L'analisi al microscopio elettronico permette di suddividere ulteriormente la C3G nella malattia da depositi densi, con depositi altamente elettrondensi nella membrana basale glomerulare, e nella glomerulonefrite da C3, con depositi mesangiali, intramembranosi, subendoteliali e subepiteliali. Sono escluse cause secondarie (autoimmuni, infettive, neoplasie maligne)."},"nl":{"name":"Primaire membranoproliferatieve glomerulonefritis","synonyms":["Mesangiocapillaire glomerulonefritis","Primaire MPGN"],"definition":"Een zeldzame glomerulaire aandoening, gekenmerkt door een patroon van glomerulaire beschadiging zichtbaar bij nierbiopsie met kenmerkende veranderingen merkbaar bij lichtmicroscopie: mesangiale hypercellulariteit, endocapillaire proliferatie, en verdikking van glomerulaire basale membraan (GBM). Op basis van immunofluorescentie (IF) wordt de aandoening onderverdeeld in C3-glomerulopathie (C3G) en immunoglobuline-gemedieerde membranoproliferatieve glomerulonefritis. Door middel van elektronenmicroscopie wordt C3G verder onderverdeeld in dense deposit-ziekte, met zeer elektronendense deposities in glomerulaire basale membraan, en C3-glomerulonefritis, met mesangiale, intramembraneuze subendotheliale en subepitheliale afzettingen. Secundaire oorzaken (auto-immuun, infectieus, maligniteiten) worden uitgesloten."},"pt":{"name":"Glomerulonefrite membrano-proliferativa primária","synonyms":["Glomerulonefrite mesangiocapilar","MPGN primária"],"definition":"Doença glomerular rara caracterizada por um padrão de lesão glomerular na biópsia renal com alterações na microscopia óptica características: hipercelularidade mesangial, proliferação endocapilar e espessamento da membrana basal glomerular (GBM). Com base na imunofluorescência (IF), a doença é dividida em glomerulopatia C3 (C3G) ou glomerulonefrite membranoproliferativa mediada por imunoglobulina. Através da microscopia eletrónica, o C3G é dividido em doença de depósito denso, com depósitos altamente eletrondensos na membrana basal glomerular, e glomerulonefrite C3, com depósitos mesangiais, intramembranosos, subendoteliais e subepiteliais. As causas secundárias (autoimunes, infeciosas, doenças malignas) não estão incluídas."},"pl":{"name":"Pierwotne błoniasto-rozplemowe kłębuszkowe zapalenie nerek","synonyms":["Błoniasto-rozplemowe kłębuszkowe zapalenie nerek","MPGN"]},"cs":{"name":"Primární membranoproliferativní glomerulonefritida","synonyms":["MPGN","Mesangiokapilární glomerulonefritida"]},"uk":{"name":"Первинний мембранопроліферативний гломерулонефрит","synonyms":["Мезангіокапілярний гломерулонефрит","Первинна MPGN"],"definition":"A rare glomerular disease characterized by a pattern of glomerular injury on kidney biopsy with characteristic light microscopic changes: mesangial hypercellularity, endocapillary proliferation, and thickening of the glomerular basement membrane (GBM). On the basis of immunofluorescence (IF) the disorder is divided into C3 glomerulopathy (C3G) or immunoglobulin-mediated membranoproliferative glomerulonephritis. Through electron microscopy C3G is further divided into Dense deposit disease, with highly electrondense deposits in the glomerular basement membrane, and C3 glomerulonephritis, with mesangial, intramembranous, subendothelial and subepithelial deposits. Secondary causes (autoimmune, infectious, malignancies) are excluded."},"zh":{"name":"原发性膜增生性肾小球肾炎","synonyms":["系膜毛细血管性肾小球肾炎"]},"tr":{"name":"Primer membranoproliferatif glomerülonefrit","synonyms":["Primer MPGN","Mezanjiyokapiller glomerülonefrit"]}},"xrefs":[{"source":"OMIM","code":"305800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609814","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614809","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615008","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N05.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MF8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"721580916"},{"source":"MONDO","code":"0018904","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015432","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0017662","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"11982","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10018370","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183586,"name":"Genetic glomerular disease","classifications":[156]},{"orpha":93548,"name":"Glomerular disease","classifications":[188,233]}],"children":[{"orpha":329918,"name":"C3 glomerulopathy","type":"Clinical subtype"},{"orpha":329903,"name":"Immunoglobulin-mediated membranoproliferative glomerulonephritis","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DGKE","name":"diacylglycerol kinase epsilon","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23274426[PMID]","hgnc":"2852","ensembl":"ENSG00000153933","omim":"601440","loci":["17q22"],"via":{"orpha":329903,"name":"Immunoglobulin-mediated membranoproliferative glomerulonephritis"}}],"inheritance":["Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":16.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-27","source":"27056062[PMID]_22798508[PMID]_22802081[PMID]_30854618[PMID]_26972096[PMID]","terms":[{"hpo":"HP:0000793","label":"Membranoproliferative glomerulonephritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030888","label":"C3 nephritic factor positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004746","label":"Glomerular subendothelial electron-dense deposits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001977","label":"Abnormal thrombosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011510","label":"Drusen","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null}]}}