{"orpha":1851,"name":"Multicystic dysplastic kidney","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["MCDK","Multicystic renal dysplasia"],"definition":"A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1851/","orphanet_url":"https://www.orpha.net/en/disease/detail/1851","names":{"fr":{"name":"Dysplasie rénale multikystique","synonyms":["MCDK"],"definition":"Malformation congénitale rare du rein et de l'appareil urinaire (CAKUT) dans laquelle l'un ou les deux reins (respectivement MCDK unilatéral ou bilatéral) sont volumineux, distendus par de multiples kystes et non fonctionnels. Le MCDK unilatéral est généralement asymptomatique si le second rein est pleinement fonctionnel, mais le patient peut parfois présenter des signes d'obstruction abdominale lorsque les kystes deviennent trop volumineux. Le MCDK bilatéral est considéré comme une maladie létale et les nouveau-nés présentent les signes cliniques de la séquence de Potter, une hypoplasie pulmonaire sévère et une insuffisance rénale sévère, le décès survient généralement peu après la naissance."},"de":{"name":"Nierendysplasie, multizystische","synonyms":["MCDK","Multizystische renale Dysplasie","Nierendysplasie, diffuse"],"definition":"Eine seltene angeborene Anomalie der Niere und der ableitenden Harnwege (CAKUT), bei der eine oder beide Nieren (unilaterale bzw. bilaterale multizystische dysplastische Nieren (MCDK)) groß, durch zahlreiche Zysten vergrößert und funktionslos sind. Die unilaterale MCDK ist in der Regel asymptomatisch, wenn die andere Niere voll funktionsfähig ist, kann aber gelegentlich mit abdominalen Obstruktionszeichen einhergehen, wenn die Zysten zu groß werden. Die bilaterale MCDK gilt als tödlich, und die Neugeborenen weisen Merkmale der Potter-Sequenz, eine schwere pulmonale Hypoplasie und ein schweres Nierenversagen auf und sterben im Allgemeinen kurz nach der Geburt."},"es":{"name":"Riñón displásico multiquístico","synonyms":["Displasia renal multiquística","MCDK"],"definition":"Es una anomalía congénita poco frecuente del riñón y del tracto urinario (CAKUT) en la que uno o ambos riñones (MCDK unilateral o bilateral, respectivamente) están agrandados y distendidos a consecuencia de la presencia de múltiples quistes y no son funcionales. La MCDK unilateral es típicamente asintomática cuando el segundo riñón es completamente funcional, pero en ocasiones puede presentarse con signos de obstrucción abdominal cuando los quistes alcanzan gran tamaño. La MCDK bilateral se considera una entidad letal y los recién nacidos presentan características de la secuencia de Potter, hipoplasia pulmonar grave e insuficiencia renal grave y, por lo general, fallecen poco después del nacimiento."},"it":{"name":"Rene displastico multicistico","synonyms":["Displasia renale multicistica","MCDK"]},"nl":{"name":"Multicystische dysplastische nier","synonyms":["MCDK","Multicystische nierdysplasie"],"definition":"Een zeldzame congenitale anomalie van nier en urinewegstelsel (CAKUT) waarbij een of beide nieren (respectievelijk unilaterale of bilaterale MCDK) groot, opgezwollen door meerdere multiple cysten, en niet-functioneel zijn. Unilaterale MCDK is doorgaans asymptomatisch als de andere nier volledig functioneel is, maar kan soms verschijnselen van darmobstructie vertonen wanneer de cysten te groot worden. Bilaterale MCDK wordt als letale entiteit beschouwd, en neonaten vertonen kenmerken van Potter-sequentie, ernstige pulmonale hypoplasie en ernstig nierfalen en overlijden kort na de geboorte."},"pt":{"name":"Displasia renal quística difusa","synonyms":["Displasia renal difusa, forma autossómica recessiva"]},"pl":{"name":"Nerka dysplastyczna wielotorbielowata","synonyms":["Dysplazja wielotorbielowata nerki","MCDK"]},"cs":{"name":"Multicystická dysplázie ledvin","synonyms":["MCDK","Multicystická renální dysplázie"]},"uk":{"name":"Мультикістозна диспластична нирка","synonyms":["MCDK","Мультикістозна дисплазія нирок"],"definition":"A rare congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional. Unilateral MCDK is typically asymptomatic if the other kidney is fully functional but may occasionally present with abdominal obstructive signs when the cysts become too large. Bilateral MCDK is considered a lethal entity and neonates present with features of the Potter sequence, severe pulmonary hypoplasia and severe renal failure, and generally die shortly after birth."},"zh":{"name":"多囊性肾发育不良","synonyms":["多囊性肾发育不良"]},"tr":{"name":"Multikistik displastik böbrek","synonyms":["MCDK","Multikistik böbrek displazisi"]}},"xrefs":[{"source":"ICD-10","code":"Q61.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB30.9","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1178642763"},{"source":"MONDO","code":"0015988","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D021782","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3714581","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":357506,"name":"Genetic non-syndromic renal or urinary tract malformation","classifications":[156]},{"orpha":93546,"name":"Non-syndromic renal or urinary tract malformation","classifications":[147,188,233]}],"children":[{"orpha":97364,"name":"Bilateral multicystic dysplastic kidney","type":"Clinical subtype"},{"orpha":97363,"name":"Unilateral multicystic dysplastic kidney","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"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"],"via":{"orpha":97363,"name":"Unilateral multicystic dysplastic kidney"}},{"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"],"via":{"orpha":97364,"name":"Bilateral multicystic dysplastic kidney"}}],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":23.26,"area":"Worldwide","status":"Validated","source":"19171687[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-10-05","source":"26255066[PMID]_34538561[PMID]_34507790[PMID]","terms":[{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031500","label":"Abdominal mass","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000105","label":"Enlarged kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000122","label":"Unilateral renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000070","label":"Ureterocele","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000074","label":"Ureteropelvic junction obstruction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030735","label":"Ureterovesical junction obstruction","frequency":"Very rare (<4-1%)","criteria":null}]}}