{"orpha":567548,"name":"Idiopathic steroid-resistant nephrotic syndrome","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic SRNS"],"definition":"A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-567548/","orphanet_url":"https://www.orpha.net/en/disease/detail/567548","names":{"fr":{"name":"Syndrome néphrotique corticorésistant idiopathique","synonyms":["SNCR idiopathique","Syndrome néphrotique idiopathique avec résistance aux stéroïdes"],"definition":"Syndrome néphrotique idiopathique rare caractérisé par la triade protéinurie, hypoalbuminémie et oedème chez des patients qui ne répondent pas, ou qui ne répondent que partiellement, au traitement initial par corticoïdes. Les patients peuvent présenter une résistance à plusieurs médicaments ou être susceptibles au traitement immunosuppresseur de seconde ligne."},"de":{"name":"Idiopathisches steroid-resistentes nephrotisches Syndrom","synonyms":["Idiopathisches SRNS"],"definition":"Ein seltene Nierenerkrankung im Kindesalter, die durch die Trias von Proteinurie, Hypoalbuminämie und Ödemen bei Patienten gekennzeichnet ist, die nicht oder nur teilweise auf den ersten Versuch mit Kortikosteroiden ansprechen. Die Patienten können multiresistent sein oder empfindlich auf eine immunsuppressive Zweitlinientherapie reagieren."},"es":{"name":"Síndrome nefrótico idiopático resistente a esteroides","synonyms":["SNRS idiopático"],"definition":"Es un síndrome nefrótico idiopático poco frecuente caracterizado por la tríada de proteinuria, hipoalbuminemia y edema en pacientes que no responden, o sólo responden parcialmente, a la prueba inicial de corticosteroides. Los pacientes pueden ser resistentes a múltiples fármacos o pueden ser sensibles a la terapia inmunosupresora de segunda línea."},"it":{"name":"Sindrome nefrosica idiopatica resistente agli steroidi","synonyms":["SRNS idiopatica"]},"nl":{"name":"Idiopathisch steroïdresistent nefrotisch syndroom","synonyms":["Idiopathisch SRNS"],"definition":"Een zeldzaam idiopathisch nefrotisch syndroom, gekenmerkt door de triade van proteïnurie, hypoalbuminemie en oedeem bij patiënten die niet of slechts gedeeltelijk reageren op initiële toediening van corticosteroïden. Patiënten kunnen resistent zijn tegen meerdere geneesmiddelen, of kunnen gevoelig zijn voor tweedelijns immuunsuppressieve therapie."},"pt":{"name":"Síndrome nefrótica corticorresistente idiopática","synonyms":["SRNS idiopática"],"definition":"Síndrome nefrótica idiopática rara, caracterizada pela tríade de proteinúria, hipoalbuminemia e edema em doentes que não respondem, ou respondem apenas parcialmente, ao teste inicial de corticosteróides. Os doentes podem ser multirresistentes ou sensíveis à terapia imunossupressora de segunda linha."},"pl":{"name":"Idiopatyczny zespół nerczycowy oporny na sterydy","synonyms":["Idiopathic SRNS"]},"cs":{"name":"Idiopatický nefrotický syndrom rezistentní na steroidy","synonyms":["Idiopathic SRNS"]},"uk":{"name":"Ідіопатичний стероїдорезистентний нефротичний синдром","synonyms":["Ідіопатичний SRNS"],"definition":"A rare, idiopathic nephrotic syndrome characterized by the triad of proteinuria, hypoalbuminemia and edema in patients who do not respond, or only partially respond, to the initial trial of corticosteroids. Patients may be multidrug resistant or may be sensitive to second-line immunosuppressive therapy."},"zh":{"name":"特发性类固醇抵抗肾病综合征","synonyms":["Idiopathic SRNS"]},"tr":{"name":"İdiyopatik steroide dirençli nefrotik sendrom","synonyms":["İdiyopatik SRNS"]}},"xrefs":[{"source":"ICD-10","code":"N04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB41","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0031008","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536404","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1868672","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":357502,"name":"Idiopathic nephrotic syndrome","classifications":[188,233]}],"children":[{"orpha":567550,"name":"Idiopathic multidrug-resistant nephrotic syndrome","type":"Clinical subtype"},{"orpha":567552,"name":"Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2582,"area":"Worldwide","status":"Validated","source":"30552564[PMID]_ORPHANET"},{"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":"2021-06-17","source":"32382828[PMID]_29910038[PMID]_31831576[PMID]","terms":[{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031265","label":"Abnormal podocyte morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012579","label":"Minimal change glomerulonephritis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012590","label":"Abnormal urine output","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001919","label":"Acute kidney injury","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001945","label":"Fever","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031504","label":"Foamy urine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100539","label":"Periorbital edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001967","label":"Diffuse mesangial sclerosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002586","label":"Peritonitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Very rare (<4-1%)","criteria":null}]}}