{"orpha":97364,"name":"Bilateral multicystic dysplastic kidney","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Bilateral MCDK","Bilateral multicystic renal dysplasia"],"definition":"A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97364/","orphanet_url":"https://www.orpha.net/en/disease/detail/97364","names":{"fr":{"name":"Dysplasie rénale multikystique bilatérale","synonyms":["MCDK, forme bilatérale"],"definition":"Forme rare de dysplasie rénale multikystique (MCDK), entrant dans le cadre des anomalies congénitales du rein et des voies urinaires (CAKUT pour congenital anomaly of the kidney and urinary tract), qui se caractérise par deux gros reins distendus non fonctionnels, comportant de nombreux kystes non communicants."},"de":{"name":"Nierendysplasie, multizystische, bilaterale Form","synonyms":["Bilaterale multizystische renale Dysplasie","MCDK, bilateral"],"definition":"Bei der multizystischen dysplastischen Niere (MCDK) handelt es sich um eine seltene, tödlich verlaufende angeborene Anomalie der Niere und der ableitenden Harnwege (CAKUT), bei der beide Nieren vergößert, durch nicht miteinander kommunizierende multiple Zysten ausgedehnt und funktionslos sind."},"es":{"name":"Riñón displásico multiquístico bilateral","synonyms":["Displasia renal multiquística bilateral","MCDK bilateral"],"definition":"Es una forma letal poco frecuente de riñón displásico multiquístico (RDMQ), una anomalía congénita del riñón y del tracto urinario (CAKUT), que se presenta con ambos riñones agrandados, distendidos por múltiples quistes no comunicantes y no funcionales."},"it":{"name":"Rene displastico multicistico bilaterale","synonyms":["Displasia renale multicistica bilaterale","MCDK bilaterale"],"definition":"Si tratta di una forma rara e letale di displasia renale multicistica (MCDK), un'anomalia congenita dei reni e delle vie urinarie (CAKUT), nella quale entrambi i reni sono aumentati di volume, non funzionanti, e presentano cisti multiple non comunicanti."},"nl":{"name":"Bilaterale multicystische dysplastische nier","synonyms":["Bilaterale MCDK","Bilaterale multicystische nierdysplasie","Bilaterale multicystische renale dysplasie"],"definition":"Een zeldzame, letale vorm van multicystische dysplastische nier (MCDK), een congenitale anomalie van nier en urinewegen (CAKUT), waarbij één of beide nieren groot, opgezwollen door meerdere niet-communicerende cystes, en niet functioneel zijn."},"pt":{"name":"Displasia renal, multiquística, bilateral"},"pl":{"name":"Obustronna wielotorbielowata nerka dysplastyczna","synonyms":["Obustronna MCDK","Obustronna wielotorbielowata dysplazja nerki"]},"cs":{"name":"Bilaterální multicystická dysplázie ledvin","synonyms":["Bilaterální MCDK","Bilaterální multicystická renální dysplázie"]},"uk":{"name":"Двостороння мультикістозна диспластична нирка","synonyms":["Двосторонній MCDK","Двобічна мультикістозна дисплазія нирок"],"definition":"A rare lethal form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which both kidneys are large, distended by non-communicating multiple cysts and non-functional."},"zh":{"name":"多囊性双侧肾发育不全","synonyms":["双侧多囊肾发育不良"],"definition":"一种罕见的致死性多囊发育不良肾(MCDK)，是一种先天性肾和尿路畸形(CAKUT)，双侧肾脏较大，内部有多个非交通性的肿胀囊肿，且丧失功能。"},"tr":{"name":"Bilateral multikistik displastik böbrek","synonyms":["Bilateral MCDK","Bilateral multikistik böbrek displazisi"]}},"xrefs":[{"source":"ICD-10","code":"Q61.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB30.9","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"734734699"},{"source":"MONDO","code":"0019982","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537373","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840451","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9517","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":1851,"name":"Multicystic dysplastic kidney","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":"20155289[PMID]_23725647[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}