{"orpha":280406,"name":"Familial steroid-resistant nephrotic syndrome with sensorineural deafness","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss"],"definition":"A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280406/","orphanet_url":"https://www.orpha.net/en/disease/detail/280406","names":{"fr":{"name":"Syndrome néphrotique familial corticorésistant avec surdité neurosensorielle","definition":"Déficit rare en coenzyme Q10, d'origine génétique, caractérisé par une surdité neurosensorielle et un syndrome néphrotique progressif sévère ne répondant pas au traitement par stéroïdes. Les manifestations cliniques comprennent une protéinurie à début précoce, une hypoalbuminémie et un oedème, entraînant une insuffisance rénale de stade terminal. La biopsie rénale révèle une glomérulosclérose segmentaire et focale et une sclérose mésangiale diffuse. Dans de rares cas, des convulsions, une ataxie et une dysmorphie ont été rapportées."},"de":{"name":"Nephrotisches Syndrom, steroid-resistentes, mit sensorineuraler Hörstörung, familiäre Form","definition":"Ein genetisch bedingter Coenzym Q10-Mangel, der durch eine sensorineurale Taubheit und ein schweres progressives nephrotisches Syndrom gekennzeichnet ist, das nicht auf eine Behandlung mit Steroiden anspricht. Zu den klinischen Symptomen gehören eine früh einsetzende Proteinurie, Hypoalbuminämie und Ödeme, die zu einer terminalen Niereninsuffizienz führen. Nierenbiopsien zeigen eine fokale segmentale Glomerulosklerose und eine diffuse mesangiale Sklerose. In seltenen Fällen wurden Krampfanfälle, Ataxie und dysmorphe Symptome beschrieben."},"es":{"name":"Síndrome nefrótico familiar resistente a esteroides asociado a sordera neurosensorial","synonyms":["Síndrome nefrótico familiar resistente a esteroides asociado a hipoacusia neurosensorial"],"definition":"Es una entidad poco frecuente causada por el déficit de coenzima Q10, de origen genético. Se caracteriza por la aparición de un cuadro de sordera neurosensorial y un síndrome nefrótico progresivo y grave, córtico-resistente.. Las manifestaciones clínicas incluyen la proteinuria de inicio precoz, hipoalbuminemia y edema, con progresión a enfermedad renal terminal. La biopsia renal demuestra un patrón de glomeruloesclerosis focal y segmentaria y esclerosis mesangial difusa. Se ha descrito, en raras ocasiones, la asociación con convulsiones, ataxia y características dismórficas."},"it":{"name":"Sindrome nefrosica familiare resistente agli steroidi con sordità neurosensoriale","definition":"La sindrome nefrosica familiare resistente agli steroidi con sordità neurosensoriale è un difetto genetico raro del coenzima Q10, caratterizzato da sordità neurosensoriale e sindrome nefrosica progressiva grave, che non risponde al trattamento con gli steroidi. I segni clinici comprendono la proteinuria ad esordio precoce, l'ipoalbuminemia e l'edema, con conseguente malattia renale terminale. La biopsia renale evidenzia una glomerulosclerosi segmentale focale e sclerosi mesangiale diffusa. Raramente i pazienti presentano crisi epilettiche, atassia e dismorfismi facciali."},"nl":{"name":"Familiaal steroïdresistent nefrotisch syndroom met sensorineurale doofheid","definition":"Familiaal steroïdresistent nefrotisch syndroom met sensorineurale doofheid is een zeldzame, genetische deficiëntie van co-enzym Q10 die gekarakteriseerd wordt door sensorineurale doofheid en ernstig, progressief nefrotisch syndroom dat niet reageert op behandeling met steroïden. Klinische manifestaties zijn onder meer vroeg aanvangende proteïnurie, hypoalbuminemie en oedeem, met als gevolg eindstadium nierziekte. Analyse van nierbiopten toont focale segmentale glomerulosclerose en diffuse mesangiale sclerose. In zeldzame gevallen werden insulten, ataxie en dysmorfe kenmerken beschreven."},"pt":{"name":"Síndrome nefrótica corticorresistente familiar com surdez neurossensorial"},"pl":{"name":"Rodzinny steroidooporny zespół nerczycowy z głuchotą zmysłowo-nerwową","synonyms":["Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss"],"definition":"*Rodzinny steroidooporny zespół nerczycowy z głuchotą zmysłowo-nerwową jest rzadkim, genetycznie uwarunkowanym niedoborem koenzymu Q10, który charakteryzuje się niedosłuchem zmysłowo-nerwowym i ciężkim, postępującym zespołem nerczycowym, nieodpowiadającym na leczenie steroidami. Objawy kliniczne obejmują białkomocz, hipoalbuminemię oraz obrzęki o wczesnym początku, co prowadzi do schyłkowej niewydolności nerek. W biopsji nerki widoczne jest ogniskowe segmentalne stwardnienie kłębuszków nerkowych i rozlane stwardnienie mezangialne. Rzadko opisywano napady padaczkowe, ataksję i objawy dysmorfii.inf brsup"},"cs":{"name":"Familiární kortikorezistentní nefrotický syndrom se senzorineurální hluchotou","synonyms":["Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss"]},"uk":{"name":"Сімейний стероїдорезистентний нефротичний синдром із сенсоневральною глухотою","synonyms":["Сімейний стероїдорезистентний нефротичний синдром із сенсоневральною приглухуватістю"],"definition":"A rare, genetic coenzyme Q10 deficiency characterized by sensorineural deafness and severe, progressive nephrotic syndrome not responding to steroid treatment. Clinical manifestations include early onset proteinuria, hypoalbuminemia and edema, leading to end-stage renal disease. The renal biopsy reveals focal segmental glomerulosclerosis and diffuse mesangial sclerosis. Rarely, seizures, ataxia and dysmorphic features have been described."},"zh":{"name":"家族性激素抵抗型肾病综合征伴感觉神经性耳聋","synonyms":["家族性激素抵抗型肾病综合征伴感觉神经性耳聋"],"definition":"家族性激素耐药型肾病综合征伴感音神经性耳聋是一种罕见的遗传性辅酶Q10缺乏症，其特征是感音神经性耳聋和严重的进行性肾病综合征，对激素治疗耐药。临床表现包括早发性蛋白尿、低蛋白血症和水肿，导致终末期肾病。肾活检显示局灶性节段性肾小球硬化和弥漫性系膜硬化。罕见报道有癫痫发作，共济失调和畸形。"},"tr":{"name":"Sensörinöral sağırlık ile seyreden ailesel steroide dirençli nefrotik sendrom","synonyms":["Sensörinöral işitme kaybı ile seyreden ailesel steroide dirençli nefrotik sendrom"]}},"xrefs":[{"source":"OMIM","code":"614650","qualifier":"E","icd_relation":null,"validated":true},{"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":"0013836","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5191003","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":35656,"name":"Coenzyme Q10 deficiency","classifications":[150,156,181]},{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[{"symbol":"COQ6","name":"coenzyme Q6, monooxygenase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21540551[PMID]","hgnc":"20233","ensembl":"ENSG00000119723","omim":"614647","loci":["14q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"21540551[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}