{"orpha":449395,"name":"IgG4-related kidney disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-449395/","orphanet_url":"https://www.orpha.net/en/disease/detail/449395","names":{"fr":{"name":"Maladie rénale associée à IgG4","definition":"Maladie rénale rare survenant dans le cadre d'une maladie systémique liée aux IgG4 (IgG4-RD). Elle est caractérisée par une néphrite tubulo-interstitielle fibrosante constituée de plasmocytes à prédominance d'IgG4+ avec ou sans glomérulonéphrite, par une fibrose rétropéritonéale et par une hydronéphrose."},"de":{"name":"IgG4-assoziierte Nierenkrankheit","synonyms":["Nephropathie, IgG4-assoziierte"],"definition":"Eine seltene Nierenerkrankung, die im Rahmen einer systemischen IgG4-assoziierten Erkrankung (Immunoglobulin G4- related disease, IgG4-RD) auftritt. Die Erkrankung ist gekennzeichnet durch eine fibrosierende tubulointerstitielle Nephritis mit überwiegend IgG4+-Plasmazellen mit/ohne Glomerulonephritis, retroperitonealer Fibrose und Hydronephrose besteht."},"es":{"name":"Enfermedad renal relacionada con IgG4","definition":"Es una enfermedad renal poco frecuente que se presenta en el contexto de una enfermedad sistémica relacionada por IgG4 (ER-IgG4). El trastorno está caracterizado por nefritis tubulointersticial fibrosante consistente principalmente en células plasmáticas IgG4+ con/sin glomerulonefritis, lesiones ocupantes de espacio, riñones grandes e hidronefrosis."},"it":{"name":"Malattia renale correlata a IgG4","definition":"La malattia renale correlata a IgG4 è una nefropatia rara che insorge nel quadro di una malattia sistemica correlata alla immunoglobulina G4 (IgG4-RD). È caratterizzata dalla nefrite tubulointerstiziale fibrosante costituita per lo più da plasmacellule IgG4+ con o senza glomerulonefrite, lesioni sotto forma di massa, ipertrofia renale e idronefrosi."},"nl":{"name":"IgG4-gerelateerde nierziekte","definition":"Een zeldzame nierziekte die optreedt in de context van een systemische IgG4-gerelateerde ziekte (IgG4-RD). De aandoening wordt gekenmerkt door fibroserende tubulo-interstitiële nefritis voornamelijk bestaande uit IgG4+ plasmacellen met/zonder glomerulonefritis, retroperitoneale fibrose en hydronefrose."},"pt":{"name":"Doença renal IgG4-relacionada"},"pl":{"name":"Choroba nerek związana z IgG4"},"cs":{"name":"IgG4 asociované postižení ledvin"},"uk":{"name":"Захворювання нирок, повязані з IgG4","definition":"A rare renal disease occurring in the setting of a systemic IgG4 related disease (IgG4-RD). The disorder is characterized by a fibrosing tubulointerstitial nephritis consisting of predominantly IgG4+ plasma cells with/without glomerulonephritis, retroperitoneal fibrosis and hydronephrosis."},"zh":{"name":"IgG4相关肾病","definition":"罕见的肾脏疾病，发生于全身性IgG4相关疾病（IgG4-RD）的情况下。该疾病的特征是纤维化性肾小管间质性肾炎，主要由IgG4 +浆细胞组成，伴有/不伴有肾小球肾炎，肿块病变，肾脏肿大和肾积水。"},"tr":{"name":"IgG4-ilişkili böbrek hastalığı"}},"xrefs":[{"source":"ICD-10","code":"N11.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A43.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1877692678"},{"source":"MONDO","code":"0018671","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5392056","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":596448,"name":"IgG4-related systemic disease","classifications":[196]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26666884[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-19","source":"32488771[PMID]_32234380[PMID]_25594543[PMID]","terms":[{"hpo":"HP:0003237","label":"Increased circulating IgG level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032300","label":"Increased circulating IgG4 level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001970","label":"Tubulointerstitial nephritis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003493","label":"Antinuclear antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005421","label":"Decreased circulating complement C3 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045042","label":"Decreased circulating complement C4 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032298","label":"Increased circulating IgG1 level","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:0032616","label":"Renal interstitial immunoglobulin deposits","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002923","label":"Rheumatoid factor positive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001679","label":"Abnormal aortic morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031093","label":"Abnormal breast morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002088","label":"Abnormal lung morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045026","label":"Abnormal mediastinum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025633","label":"Abnormal ureter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011747","label":"Abnormality of the anterior pituitary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012592","label":"Albuminuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012089","label":"Arteritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001082","label":"Cholecystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011109","label":"Chronic sinusitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000620","label":"Dacryocystitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001410","label":"Decreased liver function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031032","label":"Decreased retinol-binding protein level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003212","label":"Increased circulating IgE concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001880","label":"Increased total eosinophil count","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011123","label":"Inflammatory abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006515","label":"Interstitial pneumonitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002840","label":"Lymphadenitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002716","label":"Lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031549","label":"Lymphocytoma cutis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012578","label":"Membranous nephropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012593","label":"Nephrotic range proteinuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001701","label":"Pericarditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002102","label":"Pleuritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000024","label":"Prostatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005200","label":"Retroperitoneal fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030991","label":"Sclerosing cholangitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031281","label":"Sialadenitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006000","label":"Ureteral obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0500006","label":"Urethritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100577","label":"Urinary bladder inflammation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011227","label":"Elevated circulating C-reactive protein concentration","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000126","label":"Hydronephrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100586","label":"Sterile pyuria","frequency":"Excluded (0%)","criteria":null}]}}