{"orpha":93172,"name":"Renal dysplasia, unilateral","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Kidney dysplasia, unilateral"],"definition":"A form of renal dysplasia (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93172/","orphanet_url":"https://www.orpha.net/en/disease/detail/93172","names":{"fr":{"name":"Dysplasie rénale unilatérale","definition":"Forme de dysplasie rénale (DR) caractérisée par le développement anormal ou incomplet d'un rein. La DR unilatérale peut être segmentaire, de gravité variable, avec une forme extrême correspondant à l'aplasie rénale. Les patients peuvent être asymptomatiques si le rein controlatéral est fonctionnel. Même en cas de DR unilatérale extrême, c'est-à-dire d'aplasie rénale, le risque d'insuffisance rénale dans l'enfance est minime ; cependant, les patients peuvent développer une hypertension, une protéinurie et une insuffisance rénale à l'âge adulte."},"de":{"name":"Nierendysplasie, unilaterale","synonyms":["Unilaterale renale Dysplasie"],"definition":"Eine Form der Nierendysplasie (RD), die durch eine abnorme oder unvollständige Entwicklung einer Niere gekennzeichnet ist. Die einseitige RD kann segmental und von unterschiedlichem Schweregrad sein, wobei eine Nierenaplasie einer extremen RD entspricht. Die Patienten können asymptomatisch sein, wenn die kontralaterale Niere funktionsfähig ist. Selbst bei schwerer unilateraler RD, d. h. Nierenaplasie, ist das Risiko eines Nierenversagens im Kindesalter minimal; allerdings können die Patienten im Erwachsenenalter Bluthochdruck, Proteinurie und Nierenversagen entwickeln."},"es":{"name":"Displasia renal unilateral","synonyms":["Displasia de riñón unilateral"],"definition":"Es una forma de displasia renal (DR) caracterizada por el desarrollo anómalo o incompleto de un riñón. La DR unilateral puede ser segmentaria y de gravedad variable, correspondiendo la aplasia renal a la DR extrema. Los pacientes pueden estar asintomáticos si el riñón contralateral es funcional. Incluso en casos de RD unilateral grave, es decir, aplasia renal, el riesgo de insuficiencia renal en la infancia es mínimo; sin embargo, los pacientes pueden desarrollar hipertensión, proteinuria e insuficiencia renal en la edad adulta."},"it":{"name":"Displasia renale monolaterale","definition":"Si tratta di una forma di displasia renale (DR), caratterizzata da uno sviluppo anomalo o incompleto di un rene. La DR monolaterale può essere segmentale e di gravità variabile; la forma più grave della malattia è caratterizzata dall'aplasia renale. I pazienti possono essere asintomatici se la funzione del rene controlaterale è normale. Anche nei pazienti con DR monolaterale grave (aplasia renale), la probabilità di insufficienza renale durante l'infanzia è minima; tuttavia, i pazienti possono sviluppare ipertensione, proteinuria e insufficienza renale nell'età adulta."},"nl":{"name":"Renale dysplasie, unilateraal","synonyms":["Nierdysplasie, unilateraal","Unilaterale dysplasie van nier"],"definition":"Een vorm van nierdysplasie (RD), gekenmerkt door abnormale of onvolledige ontwikkeling van één nier. Unilaterale RD kan segmentaal zijn, en variabele gradaties van ernst vertonen, waarbij aplasie van nier overeenkomt met extreme RD. Patiënten kunnen asymptomatisch zijn indien de contralaterale nier functioneel is. Zelfs in geval van ernstige unilaterale RD, i.e. nieraplasie, is het risico op nierfalen in de kindertijd minimaal; als volwassenen kunnen patiënten echter hypertensie, proteïnurie en nierfalen ontwikkelen."},"pt":{"name":"Displasia renal, unilateral","definition":"Forma de displasia renal (DR) caracterizada pelo desenvolvimento anómalo ou incompleto de um rim. A DR unilateral pode ser segmentar e de gravidade variável, a aplasia renal corresponde à forma extrema. Os doentes podem ser assintomáticos se o rim contralateral estiver funcional. Mesmo em casos de DR unilateral grave, ou seja, aplasia renal, o risco de insuficiência renal na infância é mínimo; no entanto, os doentes podem desenvolver hipertensão, proteinúria e insuficiência renal na idade adulta."},"pl":{"name":"Dysplazja nerki, jednostronna","synonyms":["Kidney dysplasia, unilateral"]},"cs":{"name":"Renální/Ledvinná dysplázie, jednostranná","synonyms":["Kidney dysplasia, unilateral"]},"uk":{"name":"Дисплазія нирок, одностороння","synonyms":["Дисплазія нирок, одностороння"],"definition":"A form of renal dysplasia (RD) characterized by abnormal or incomplete development of one kidney. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD. Patients may be asymptomatic if the contralateral kidney is functional. Even in cases of severe unilateral RD, i.e. renal aplasia, the risk of renal failure in childhood is minimal; however, patients may develop hypertension, proteinuria and renal failure as adults."},"zh":{"name":"单侧肾发育不良","synonyms":["Kidney dysplasia, unilateral"],"definition":"单侧肾发育不良是肾发育不良（RD；见该词条）的一种形式，是指一侧肾发育异常和不完整的一种肾流出道畸形。单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, tek taraflı","synonyms":["Kidney dysplasia, unilateral"]}},"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":"1984593423"},{"source":"MONDO","code":"0019644","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431697","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":"Prevalence at birth","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies[OTHER]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies[OTHER]_ORPHANET"}],"phenotypes":null}