{"orpha":289365,"name":"Familial vesicoureteral reflux","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Familial VUR"],"definition":"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-289365/","orphanet_url":"https://www.orpha.net/en/disease/detail/289365","names":{"fr":{"name":"Reflux vésico-urétéral familial","synonyms":["RVU familial","VUR familial"],"definition":"Une malformation rare, non syndromique des voies urogénitales, caractérisée par un flux rétrograde de l'urine de la vessie à l'uretère, et parfois jusqu'aux reins, d'occurrence familiale. Les patients peuvent être asymptomatiques, ou peuvent présenter des infections récurrentes des voies urinaires, parfois fébriles, qui en cas de pyélonéphrite peuvent conduire à de sérieuses complications (cicatrisation rénale, hypertension, insuffisance rénale). La condition peut se résoudre spontanément."},"de":{"name":"Vesicoureteraler Reflux, familiäre Form","synonyms":["Familiärer VUR"],"definition":"Der familiäre vesikoureterale Reflux ist eine seltene, nicht-syndromale Fehlbildung des Urogenitaltraktes, die durch das familiäre Auftreten eines retrograden Urinflusses von der Blase in den Harnleiter und manchmal in die Nieren gekennzeichnet ist. Die Patienten können asymptomatisch sein oder wiederkehrende, manchmal fieberhafte Harnwegsinfektionen aufweisen, die bei akuter Pyelonephritis zu schweren Komplikationen führen können (Narbenbildung, Bluthochdruck, Nierenversagen). Eine spontane Ausheilung der Erkrankung ist möglich."},"es":{"name":"Reflujo vesicoureteral familiar","synonyms":["VUR familiar"],"definition":"Es una malformación urogenital no sindrómica poco frecuente, caracterizada por una alta incidencia familiar de flujo de orina retrógrado desde la vejiga hacia el uréter y, a veces, a los riñones. Los afectados pueden ser asintomáticos o presentar infecciones urinarias recurrentes, a veces febriles, que en el caso de pielonefritis aguda pueden derivar en complicaciones graves (cicatriz renal, hipertensión arterial, insuficiencia renal). Es posible la remisión espontánea de esta anomalía."},"it":{"name":"Reflusso vescico-ureterale familiare","synonyms":["VUR familiare"],"definition":"Il reflusso vescico-ureterale familiare è una malformazione rara non sindromica dell'apparato urogenitale; è caratterizzata dalla ricorrenza familiare del reflusso di urina dalla vescica negli ureteri e, occasionalmente nei reni. I pazienti possono essere asintomatici oppure presentare infezioni ricorrenti alle vie urinarie, a volte associate alla febbre che, in presenza di pielonefrite acuta, possono esitare in gravi complicanze (formazione di cicatrici renali, ipertensione e insufficienza renale). È possibile la risoluzione spontanea della malattia."},"nl":{"name":"Familiale vesico-ureterale reflux","synonyms":["Familiale VUR"],"definition":"Familiale vesico-ureterale reflux is een zeldzame, niet-syndromale malformatie van het urogenitale stelsel die wordt gekarakteriseerd door het familiaal voorkomen van retrograde stroming van urine van de blaas in de ureter en soms de nieren. Patiënten kunnen asymptomatisch zijn of vertonen mogelijk terugkerende, soms febriele, infecties van de urinewegen die, in geval van acute pyelonefritis, kunnen leiden tot ernstige complicaties (renale littekenvorming, hypertensie, nierfalen). Spontaan verdwijnen van de stoornis is mogelijk."},"pt":{"name":"Refluxo vesico-ureteral familiar","synonyms":["VUR familiar"]},"pl":{"name":"Rodzinny refluks pęcherzowo-cewkowy","synonyms":["Rodzinny VUR"]},"cs":{"name":"Familiární vezikoureterální reflux","synonyms":["Familiární VUR"]},"uk":{"name":"Сімейний міхурово-сечовідний рефлюкс","synonyms":["Сімейний VUR"],"definition":"Familial vesicoureteral reflux is a rare, non-syndromic urogenital tract malformation characterized by the familial occurrence of retrograde flow of urine from the bladder into the ureter and sometimes the kidneys. Patients may be asymptomatic or may present with recurrent, sometimes febrile, urinary tract infections that, in case of acute pyelonephritis, may lead to serious complications (renal scarring, hypertension, renal failure). Spontaneous resolution of the disorder is possible."},"zh":{"name":"家族性膀胱输尿管反流","synonyms":["家族性膀胱输尿管反流"],"definition":"家族性膀胱输尿管反流是一种罕见的非综合征性泌尿生殖道畸形，其特征是家族性发生尿从膀胱逆行流入输尿管，有时至肾。患者可无症状，或出现反复发作，有时为发热性尿路感染，在急性肾盂肾炎的情况下，可能导致严重并发症（肾瘢痕、高血压、肾功能衰竭）。此疾病可自愈。"},"tr":{"name":"Ailesel vezikoüreteral reflü","synonyms":["Ailesel VUR"]}},"xrefs":[{"source":"OMIM","code":"193000","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610878","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613674","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614317","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614318","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614319","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615390","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615963","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N13.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB56.5","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0017329","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706552","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":101433,"name":"Rare urogenital disease"},"parents":[{"orpha":156622,"name":"Genetic urogenital tract malformation","classifications":[156]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]},{"orpha":182124,"name":"Non-syndromic urogenital tract malformation of male and female","classifications":[147,185,233]}],"children":[],"genes":[{"symbol":"ROBO2","name":"roundabout guidance receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17357069[PMID]","hgnc":"10250","ensembl":"ENSG00000185008","omim":"602431","loci":["3p12.3"]},{"symbol":"SOX17","name":"SRY-box transcription factor 17","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20960469[PMID]","hgnc":"18122","ensembl":"ENSG00000164736","omim":"610928","loci":["8q11.23"]},{"symbol":"TNXB","name":"tenascin XB","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23620400[PMID]","hgnc":"11976","ensembl":"ENSG00000168477","omim":"600985","loci":["6p21.33-p21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}