{"orpha":567546,"name":"Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance","type":"Clinical syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Idiopathic SSNS with secondary steroid resistance","Secondary SRNS","Secondary steroid-resistant nephrotic syndrome"],"definition":"A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-567546/","orphanet_url":"https://www.orpha.net/en/disease/detail/567546","names":{"fr":{"name":"Syndrome néphrotique corticosensible idiopathique avec résistance secondaire aux stéroïdes","synonyms":["SNCS idiopathique avec résistance secondaire aux stéroïdes","Syndrome néphrotique sensible aux stéroïdes avec résistance secondaire"],"definition":"Syndrome néphrotique idiopathique rare caractérisé par l'apparition, chez l'enfant, d'une protéinurie, d'une hypoalbuminémie et d'un oedème. Les patients répondent bien au cycle initial du traitement standard par corticostéroïdes, mais présentent une résistance à ce traitement standard en cas de récidive ultérieure et restent résistants aux stéroïdes après cette récidive."},"de":{"name":"Idiopathisches Steroid-sensitives nephrotisches Syndrom mit sekundärer Steroid-Resistenz","synonyms":["Idiopathisches SSNS mit sekundärer Steroid-Resistenz","Nephrotisches Syndrom, sekundär Steroid-resistentes","Sekundäres SRNS"],"definition":"Ein idiopathisches nephrotisches Syndrom mit Beginn im Kindesalter, das durch Proteinurie, Hypoalbuminämie und Ödeme gekennzeichnet ist. Die Patienten sprechen erfolgreich auf die anfängliche Standardbehandlung mit Kortikosteroiden an, sind aber bei einem nachfolgenden Rückfall resistent gegen die Standardtherapie und bleiben auch nach diesem Rückfall steroidresistent."},"es":{"name":"Síndrome nefrótico idiopático sensible a esteroides con resistencia secundaria a esteroides","synonyms":["SNRE secundario","SNSE idiopático con resistencia secundaria a esteroides","Síndrome nefrótico secundario resistente a esteroides"],"definition":"Es un síndrome nefrótico idiopático poco frecuente caracterizado por la aparición en la infancia de proteinuria, hipoalbuminemia y edema. Los pacientes responden con éxito al tratamiento estándar inicial con corticosteroides, pero son resistentes a la terapia estándar en una recaída posterior y tras esta recaída continúan siendo resistentes a los esteroides."},"it":{"name":"Sindrome nefrosica idiopatica sensibile agli steroidi con resistenza secondaria agli steroidi","synonyms":["SRNS secondaria","SSNS idiopatica con resistenza secondaria agli steroidi","Sindrome nefrosica con resistenza secondaria agli steroidi"]},"nl":{"name":"Idiopathisch steroïdsensitief nefrotisch syndroom met secundaire steroïdresistentie","synonyms":["Idiopathisch SSNS met secundaire steroïdresistentie","Secundair SRNS","Secundair steroïdresistent nefrotisch syndroom"],"definition":"Een zeldzaam idiopathisch nefrotisch syndroom, gekenmerkt door pediatrische aanvang van proteïnurie, hypoalbuminemie en oedeem. Patiënten reageren met succes op de initiële standaard kuur van corticosteroïden, maar zijn resistent tegen standaard therapie voor een daaropvolgend recidief en blijven steroïdresistent na dit recidief."},"pt":{"name":"Síndrome nefrótico cortico-resistente idiopático com resistência secundária aos corticoides","definition":"Síndrome nefrótica idiopática rara, caracterizada por início em idade pediátrica de proteinúria, hipoalbuminemia e edema. Os doentes respondem com sucesso ao ciclo padronizado inicial de corticosteróides, mas são resistentes e evoluem para uma recaída subsequente permanecendo resistentes aos esteróides."},"pl":{"name":"Idiopatyczny zespół nerczycowy sterydo-wrażliwy z wtórną opornością na sterydy","synonyms":["Idiopathic SSNS with secondary steroid resistance","Secondary SRNS","Secondary steroid-resistant nephrotic syndrome"],"definition":"Rzadki, idiopatyczny zespół nerczycowy, który charakteryzuje się białkomoczem, hipoalbuminemią i obrzękami i początkiem objawów w okresie dziecięcym. Pacjenci dobrze reagują na początkową standardową terapię kortykosteroidami, ale przy kolejnym nawrocie rozwija się oporność na standardową terapię, która utrzymuje się przy kolejnych nawrotach choroby."},"cs":{"name":"Idiopatický nefrotický syndrom citlivý na steroidy se sekundární rezistencí na steroidy","synonyms":["Idiopathic SSNS with secondary steroid resistance","Secondary SRNS","Secondary steroid-resistant nephrotic syndrome"]},"uk":{"name":"Ідіопатичний стероїдчутливий нефротичний синдром із вторинною стероїдною резистентністю","synonyms":["Ідіопатичний SSNS із вторинною стероїдною резистентністю","Вторинна SRNS","Вторинний стероїдорезистентний нефротичний синдром"],"definition":"A rare, idiopathic nephrotic syndrome characterized by pediatric onset of proteinuria, hypoalbuminemia and edema. Patients respond successfully to the initial standard course of corticosteroids, but are resistant to standard therapy for a subsequent relapse and following this relapse remain steroid-resistant."},"zh":{"name":"特发性类固醇敏感肾病综合征伴继发性类固醇抵抗","synonyms":["Idiopathic SSNS with secondary steroid resistance"]},"tr":{"name":"Sekonder steroid direnci ile seyreden idiyopatik steroide duyarlı nefrotik sendrom","synonyms":["Sekonder SRNS","Sekonder steroide-dirençli nefrotik sendrom","Sekonder steroid direnci ile seyreden idiyopatik SSNS"]}},"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":"0035764","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680131","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":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"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":"28117080[PMID]_29169714[PMID]_29058154[PMID]_24511128[PMID]","terms":[{"hpo":"HP:0012592","label":"Albuminuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000097","label":"Focal segmental glomerulosclerosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100724","label":"Hypercoagulability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003077","label":"Hyperlipidemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100540","label":"Palpebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012393","label":"Allergy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002094","label":"Dyspnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000034","label":"Hydrocele testis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012579","label":"Minimal change glomerulonephritis","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:0012050","label":"Anasarca","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004431","label":"Complement deficiency","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012587","label":"Macroscopic hematuria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","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}]}}