{"orpha":1309,"name":"Medullary sponge kidney","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Cacchi-Ricci disease","MSK","Precalicial canalicular ectasia"],"definition":"A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1309/","orphanet_url":"https://www.orpha.net/en/disease/detail/1309","names":{"fr":{"name":"Ectasie canaliculaire précalicielle","synonyms":["MSK","Maladie de Cacchi-Ricci"],"definition":"Malformation rare du rein caractérisée par une dilatation (généralement bilatérale) du segment médullaire des tubes collecteurs, associée à la formation de calculs rénaux, des coliques néphrétiques, une hématurie, une infection urinaire, une néphrocalcinose, une néphrolithiase calcique, une pyélonéphrite, une hypercalciurie et une hypocitraturie. La maladie est associée à un dysfonctionnement du tube contourné distal du tubule rénal."},"de":{"name":"Markschwammniere","synonyms":["Cacchi-Ricci-Krankheit","MSK"],"definition":"Eine seltene Fehlbildung der Nierenkanäle, die durch eine dilatierte Fehlbildung der medullären Sammelkanäle (typischerweise beidseitig) gekennzeichnet ist und mit Steinbildung, Nierenkoliken, Hämaturie, Harnwegsinfektionen, Nephrokalzinose, Kalziumnephrolithiasis, Pyelonephritis, Hyperkalziurie und Hypocitraturie einhergeht. Die Krankheit geht mit einer Störung der distalen Tubulusfunktionen einher."},"es":{"name":"Riñón esponjoso medular","synonyms":["Ectasia canalicular precalicial","Enfermedad de Cacchi-Ricci","Nefropatía medular quística"],"definition":"Es un trastorno poco frecuente del tracto renal caracterizado por una malformación dilatada de los túbulos colectores medulares (típicamente bilateral), y asociado a la formación de cálculos, cólicos renales, hematuria, infección del tracto urinario, nefrocalcinosis, nefrolitiasis cálcica, pielonefritis, hipercalciuria e hipocitraturia. La enfermedad se asocia con anomalías de la función tubular distal."},"it":{"name":"Rene con midollare a spugna","synonyms":["Ectasia canalicolare precaliceale","MSK","Malattia di Cacchi-Ricci"],"definition":"Il rene con midollare a spugna (MSK) è una malformazione rara dell'apparato renale, caratterizzata dalla dilatazione dei dotti collettori midollari (di solito bilaterale), associata alla formazione di calcoli, coliche renali, ematuria, infezioni delle vie urinarie, nefrocalcinosi, nefrolitiasi calcica, pielonefrite, ipercalciuria e ipocitraturia. La malattia si associa ad anomalie funzionali dei tubuli distali."},"nl":{"name":"Medullaire sponsnier","synonyms":["Precaliciële canaliculaire ectasie","Ziekte van Cacchi-Ricci","MSK"],"definition":"Een zeldzame malformatie van urinewegstelsel, gekenmerkt door gedilateerde malformatie van de medullaire verzamelbuisjes (typisch bilateraal), en geassocieerd met steenvorming, nierkolieken, hematurie, urineweginfectie, nefrocalcinose, calcium nefrolithiasis, pyelonefritis, hypercalciurie, en hypocitraturie. De ziekte is geassocieerd met abnormale functies van distale tubuli."},"pt":{"name":"Rim espongiforme medular","synonyms":["Doença Cacchi-Ricci","Ectasia canalicular pré-calicial","MSK"]},"pl":{"name":"Gąbczastość rdzenia nerki","synonyms":["Choroba Cacchi i Ricciego","MSK"]},"cs":{"name":"Medulární houbovitá ledvina","synonyms":["Cacchiho-Ricciho nemoc","MSK","Cacchi-Ricciho nemoc"]},"uk":{"name":"Губчаста нирка","synonyms":["Хвороба Какі-Річчі","MSK","Прекаріальна ектазія каналів"],"definition":"A rare renal tract malformation characterized by dilated malformation of the medullary collecting ducts (typically bilateral), and associated with stone formation, renal colic, hematuria, urinary tract infection, nephrocalcinosis, calcium nephrolithiasis, pyelonephritis, hypercalciuria and hypocitraturia. The disease is associated with abnormal distal tubular functions."},"zh":{"name":"髓质海绵肾","synonyms":["髓质海绵肾"]},"tr":{"name":"Medüller sünger böbrek","synonyms":["MSK","Cacchi-Ricci hastalığı","Prekalis kanaliküler ektazi"]}},"xrefs":[{"source":"ICD-10","code":"Q61.5","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB30.8","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1723148250"},{"source":"MONDO","code":"0015268","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D007691","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0022681","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"232","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10027104","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"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":[],"genes":[{"symbol":"HNF1B","name":"HNF1 homeobox B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33305128[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult","Childhood"],"prevalence":[{"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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008341","label":"Distal renal tubular acidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000790","label":"Hematuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001528","label":"Hemihypertrophy","frequency":"Occasional (29-5%)","criteria":null}]}}