{"orpha":93173,"name":"Renal dysplasia, bilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Kidney dysplasia, bilateral"],"definition":"A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93173/","orphanet_url":"https://www.orpha.net/en/disease/detail/93173","names":{"fr":{"name":"Dysplasie rénale bilatérale","definition":"Forme de dysplasie rénale (DR), une malformation du rein, caractérisée par le développement anormal ou incomplet des deux reins. La DR bilatérale peut être segmentaire, de sévérité variable, avec une forme extrême correspondant à l'aplasie rénale. Les patients peuvent être asymptomatiques en l'absence d'insuffisance du fonctionnement résiduel du rein. En cas de DR bilatérale sévère, le risque d'insuffisance rénale pendant l'enfance est élevé."},"de":{"name":"Nierendysplasie, bilaterale","synonyms":["Bilaterale renale Dysplasie"],"definition":"Eine Form der renalen Dysplasie (RD), eine Fehlbildung der Nierenwege, die durch eine abnorme oder unvollständige Entwicklung beider Nieren gekennzeichnet ist. Die beidseitige RD kann segmental und von unterschiedlichem Schweregrad sein, wobei eine Nierenaplasie einer extremen RD entspricht. Die Patienten können asymptomatisch sein, wenn die Restfunktion der Nieren ausreichend ist. Bei schwerer bilateraler RD ist das Risiko eines Nierenversagens im Kindesalter hoch."},"es":{"name":"Displasia renal bilateral","synonyms":["Displasia de riñón bilateral"],"definition":"Es una forma de displasia renal (DR), una malformación del tracto renal, caracterizada por un desarrollo anómalo o incompleto de ambos riñones. La DR bilateral puede ser segmentaria y de gravedad variable, correspondiendo la aplasia renal a la DR extrema. Los pacientes pueden estar asintomáticos si la función renal residual es suficiente. En los casos de DR bilateral grave, el riesgo de insuficiencia renal en la infancia es elevado."},"it":{"name":"Displasia renale bilaterale","definition":"Si tratta di una forma di displasia renale (DR), una malformazione del tratto renale, caratterizzata da uno sviluppo anomalo o incompleto di entrambi i reni. La DR bilaterale può essere segmentale e di gravità variabile; la forma più grave della DR è l'aplasia renale. I pazienti possono essere asintomatici se la funzione renale residua è sufficiente. Nei pazienti con DR bilaterale grave, la probabilità di insufficienza renale durante l'infanzia è elevata."},"nl":{"name":"Renale dysplasie, bilateraal","synonyms":["Bilaterale dysplasie van nier","Nierdysplasie, bilateraal"],"definition":"Een vorm van nierdysplasie (RD), een malformatie van urinewegen, gekenmerkt door abnormale of onvolledige ontwikkeling van beide nieren. Bilaterale RD kan segmentaal zijn, en variabele gradaties van ernst vertonen, waarbij aplasie van nier overeenkomt met extreme RD. Patiënten kunnen asymptomatisch zijn indien de resterende nierfunctie volstaat. In geval van ernstige bilaterale RD is het risico op nierfalen in de kindertijd hoog."},"pt":{"name":"Displasia renal, bilateral","definition":"Forma de displasia renal (DR), malformação do trato renal, caracterizada pelo desenvolvimento anómalo ou incompleto de ambos os rins. A DR bilateral pode ser segmentar e de gravidade variável, sendo que a aplasia renal corresponde ao extremo do espectro clínico. Os doentes podem ser assintomáticos caso a função renal residual seja suficiente. Nos casos de DR bilateral grave, o risco de insuficiência renal na infância é elevado."},"pl":{"name":"Dysplazja nerki, obustronna","synonyms":["Kidney dysplasia, bilateral"]},"cs":{"name":"Renální/ledvinná dysplázie, oboustranná","synonyms":["Kidney dysplasia, bilateral"]},"uk":{"name":"Дисплазія нирок, двостороння","synonyms":["Дисплазія нирок, двостороння"],"definition":"A form of renal dysplasia (RD), a renal tract malformation, characterized by abnormal or incomplete development of both kidneys. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the residual kidney function is sufficient. In cases of severe bilateral RD, the risk of renal failure in childhood is high."},"zh":{"name":"双侧肾发育不良","synonyms":["Kidney dysplasia, bilateral"],"definition":"双侧肾发育不良是肾发育不良（RD；见该词条）的一种形式，是指双侧肾发育异常和不完整的肾道畸形。双侧肾发育不良可以是节段性的，严重程度多变，肾不发育相当于极端的肾发育不良。"},"tr":{"name":"Böbrek displazisi, iki taraflı","synonyms":["Kidney dysplasia, bilateral"]}},"xrefs":[{"source":"ICD-10","code":"Q61.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB30.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"404654444"},{"source":"MONDO","code":"0019645","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431698","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93108,"name":"Renal dysplasia","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28566479[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}