{"orpha":2665,"name":"Congenital mesoblastic nephroma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2665/","orphanet_url":"https://www.orpha.net/en/disease/detail/2665","names":{"fr":{"name":"Néphrome mésoblastique congénital","definition":"Tumeur rénale rare, caractérisée par une tumeur myofibroblastique/mésenchymateuse, bien délimitée, isolée et unilatérale, survenant chez le nourrisson. On distingue trois formes histologiques (classique, cellulaire et mixte). La tumeur, affectant le plus souvent le sinus rénal, est généralement détectée à la palpation devant une masse abdominale. Les patients peuvent également présenter une hypertension ou une hématurie et, dans de rares cas, une hypercalcémie ou une hyperréninémie. La maladie peut se manifester en période prénatale, généralement par un polyhydramnios. Le facteur pronostique le plus important est la résection chirurgicale totale. De manière générale, il s'agit d'une tumeur de faible malignité et le pronostic clinique est favorable."},"de":{"name":"Mesoblastisches Nephrom, kongenitale Form","definition":"Ein seltener Nierentumor, der durch eine einseitige, solitäre, gut abgegrenzte, mesenchymale/myofibroblastische Neoplasie gekennzeichnet ist, die bei sehr jungen Kindern auftritt. Histopathologisch lassen sich drei Subtypen (klassisch, zellulär und gemischt) unterscheiden. Der Tumor betrifft am häufigsten den Nierensinus und wird in der Regel als tastbare Gewebeverdichtung im Bauchraum entdeckt. Die Patienten können auch mit Bluthochdruck oder Hämaturie, seltener mit Hyperkalzämie oder Hyperreninämie auftreten. Eine pränatale Präsentation, meist mit Polyhydramnion, ist nicht selten. Der wichtigste prognostische Faktor ist die Vollständigkeit der chirurgischen Resektion. Insgesamt ist das Malignitätspotenzial gering und das klinische Outcome günstig."},"es":{"name":"Nefroma mesoblástico congénito","definition":"Es un tumor renal poco frecuente caracterizado por una neoplasia mesenquimal/ miofibroblástica unilateral, aislada y bien delimitada que aparece en la infancia temprana. Histopatológicamente, se pueden distinguir tres subtipos (clásico, celular y mixto). El tumor afecta con mayor frecuencia al seno renal y típicamente se presenta como una masa abdominal palpable. Los pacientes también pueden presentar hipertensión o hematuria, excepcionalmente, hipercalcemia o hiperreninemia. La presentación prenatal, por lo general, con polihidramnios, no es infrecuente. El factor pronóstico más importante es el grado de resección quirúrgica. El potencial maligno suele ser bajo y el pronóstico clínico es favorable."},"it":{"name":"Nefroma mesoblastico congenito","definition":"Si tratta di un tumore raro del rene, caratterizzato da una neoplasia mesenchimale/miofibroblastica monolaterale, solitaria, ben delimitata, che colpisce i bambini molto piccoli. Dal punto di vista istopatologico, si distinguono tre sottotipi (classico, cellulare e misto). Di solito il tumore si localizza nel seno renale e si manifesta sotto forma di massa addominale palpabile. I pazienti possono presentare ipertensione o ematuria, e solo raramente ipercalcemia o iperreninemia. Raramente la malattia esordisce in epoca prenatale con polidramnios. Il fattore prognostico più importante è la completezza della resezione chirurgica. Nel complesso, la probabilità di evoluzione maligna è bassa e l'esito clinico è favorevole."},"nl":{"name":"Congenitaal mesoblastisch nefroom","definition":"Een zeldzame tumor van nier, gekarakteriseerd door een unilateraal, solitair, goed begrensd, mesenchymaal/myofibroblastisch neoplasma dat optreedt bij zeer jonge kinderen. Histopathologisch kunnen drie subtypes (klassiek, cellulair, en gemengd) onderscheiden worden. De tumor treft doorgaans de sinus renalis en wordt meestal ontdekt als een palpabele abdominale massa. Patiënten kunnen zich ook presenteren met hypertensie of hematurie, en in zeldzame gevallen met hypercalciëmie of hyperreninemie. Prenatale presentatie, meestal met polyhydramnion, komt maar weinig voor. De belangrijkste prognostische factor is de volledigheid van chirurgische excisie. Algemeen genomen is het maligne potentieel laag en de klinische uitkomst gunstig."},"pt":{"name":"Nefroma mesoblástico congénito"},"pl":{"name":"Wrodzony nerczak mezoblastyczny"},"cs":{"name":"Vrozený mezoblastický nefrom"},"uk":{"name":"Вроджена мезобластична нефрома","definition":"A rare renal tumor characterized by a unilateral, solitary, well demarcated, mesenchymal/myofibroblastic neoplasm occurring in very young children. Histopathologically, three subtypes (classic, cellular, and mixed) can be distinguished. The tumor most commonly involves the renal sinus and is typically discovered as a palpable abdominal mass. Patients may also present with hypertension or hematuria, rarely with hypercalcemia or hyperreninemia. Prenatal presentation, usually with polyhydramnios, is not infrequent. The most important prognostic factor is completeness of surgical resection. Overall, malignant potential is low and clinical outcome favorable."},"zh":{"name":"先天性中胚层肾瘤"},"tr":{"name":"Doğumsal mezoblastik nefroma"}},"xrefs":[{"source":"ICD-10","code":"D41.0","qualifier":"NTBT","icd_relation":"index","validated":true},{"source":"ICD-11","code":"2C90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2001572901"},{"source":"MONDO","code":"0017043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018201","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1332965","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1493","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10070665","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":93619,"name":"Rare renal tumor","classifications":[188,202]}],"children":[],"genes":[{"symbol":"ETV6","name":"ETS variant transcription factor 6","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"12165445[PMID]_16681692[PMID]","hgnc":"3495","ensembl":"ENSG00000139083","omim":"600618","loci":["12p13.2"]},{"symbol":"NTRK3","name":"neurotrophic receptor tyrosine kinase 3","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"12165445[PMID]_16681692[PMID]","hgnc":"8033","ensembl":"ENSG00000140538","omim":"191316","loci":["15q25.3"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":null}