{"orpha":34149,"name":"Autosomal dominant tubulointerstitial kidney disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ADTKD","Familial juvenile hyperuricemic nephropathy","MCKD","Medullary cystic kidney disease"],"definition":"A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-34149/","orphanet_url":"https://www.orpha.net/en/disease/detail/34149","names":{"fr":{"name":"Néphropathie tubulo-interstitielle autosomique dominante","synonyms":["MCKD","Maladie des kystes médullaires rénaux","Nephropathie hyperuricémique juvénile familiale"],"definition":"Néphropathie tubulaire génétique rare caractérisée par des lésions tubulaires et une fibrose interstitielle en l'absence de lésions glomérulaires, se manifestant sur le plan clinique par une insuffisance rénale chronique (IRC) et une lente progression vers l'insuffisance rénale terminale (IRT)."},"de":{"name":"Nierenkrankheit, tubulointerstitielle, autosomal-dominante","synonyms":["ADTKD","MCKD","Nephropathie, familiäre hyperurikämische juvenile","Nierenkrankheit, medulläre zystische, autosomal-dominante"],"definition":"Eine seltene, genetisch bedingte tubuläre Nierenerkrankung, die durch tubuläre Schädigung und interstitielle Fibrose ohne glomeruläre Läsionen gekennzeichnet ist. Sie manifestiert sich klinisch in einer chronischen Nierenerkrankung (<I>chronic kidney disease</I>, CKD), die langsam zu einer Nierenerkrankung im Endstadium (ESKD) fortschreitet."},"es":{"name":"Enfermedad renal tubulointersticial autosómica dominante","synonyms":["ADTKD","Enfermedad renal quística medular","MCKD","Nefropatía hiperuricémica juvenil familiar"],"definition":"Es una enfermedad tubular renal de origen genético poco frecuente caracterizada por daño tubular y fibrosis intersticial en ausencia de lesiones glomerulares y que se manifiesta clínicamente con enfermedad renal crónica (ERC) y progresión lenta a enfermedad renal terminal (ERT)."},"it":{"name":"Malattia renale tubulointerstiziale autosomica dominante","synonyms":["ADTKD","MCKD","Malattia cistica della midollare renale","Nefropatia iperuricemica giovanile familiare"],"definition":"Si tratta di una malattia genetica rara dei tubuli renali, caratterizzata da danno tubulare e fibrosi interstiziale, in assenza di lesioni glomerulari. Dal punto di vista clinico, si manifesta con una malattia renale cronica (CKD) che progredisce lentamente verso la malattia renale terminale (ESKD)."},"nl":{"name":"Autosomaal dominante tubulo-interstitiële nierziekte","synonyms":["ADTKD","Familiale juveniele hyperurikemische nefropathie","MCKD","Medullaire cystische nierziekte"],"definition":"Een zeldzame, genetische tubulaire nierziekte, gekenmerkt door beschadiging van niertubuli en interstitiële fibrose in afwezigheid van glomerulaire laesies, en met chronische nierziekte (CKD) en trage progressie naar terminaal nierfalen (ESRD) als klinische manifestaties."},"pt":{"name":"Doença renal tubulointersticial autossómica dominante","synonyms":["Doença renal quística medular","Nefropatia hiperuricémica juvenil familiar"],"definition":"Doença tubular renal genética rara caracterizada por lesão tubular e fibrose intersticial na ausência de lesões glomerulares e que se manifesta clinicamente com doença renal crónica (DRC) e progressão lenta para doença renal terminal (DRT)."},"pl":{"name":"Autosomalna dominująca torbielowatość rdzenia nerek z lub bez hiperurykemii","synonyms":["Autosomalna dominująca kanalikowo-śródmiąższowa choroba nerek"]},"cs":{"name":"Autozomálně dominantně tubulointersticiální onemocnění ledvin","synonyms":["Autozomálně dominantně dědičná medulární cystická choroba ledvin s nebo bez hyperurikémie"]},"uk":{"name":"Аутосомно-домінантне тубулоінтерстиціальне захворювання нирок","synonyms":["ADTKD","Сімейна ювенільна гіперурикемічна нефропатія","MCKD","Медулярно-кістозна хвороба нирок"],"definition":"A rare, genetic renal tubular disease characterized by tubular damage and interstitial fibrosis in absence of glomerular lesions and clinically manifesting with chronic kidney disease (CKD) and slow progression to end-stage kidney disease (ESKD)."},"zh":{"name":"常染色体显性遗传性肾小管间质性肾病","synonyms":["常染色体显性遗传髓质囊性肾病"]},"tr":{"name":"Otozomal dominant tubulointerstisyel böbrek hastalığı","synonyms":["MCKD","ADTKD","Otozomal dominant medüller kistik böbrek hastalığı"]}},"xrefs":[{"source":"OMIM","code":"137920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"162000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"174000","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.5","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"GB82","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"216863438"},{"source":"MONDO","code":"0008264","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"8264","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4511620","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10801","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":183592,"name":"Genetic renal tubular disease","classifications":[156]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]}],"children":[{"orpha":93111,"name":"HNF1B-related autosomal dominant tubulointerstitial kidney disease","type":"Clinical subtype"},{"orpha":88949,"name":"MUC1-related autosomal dominant tubulointerstitial kidney disease","type":"Clinical subtype"},{"orpha":217330,"name":"REN-related autosomal dominant tubulointerstitial kidney disease","type":"Clinical subtype"},{"orpha":88950,"name":"UMOD-related autosomal dominant tubulointerstitial kidney disease","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":"21844708[PMID]_22498247[PMID]","hgnc":"11630","ensembl":"ENSG00000275410","omim":"189907","loci":["17q12"],"via":{"orpha":93111,"name":"HNF1B-related autosomal dominant tubulointerstitial kidney disease"}},{"symbol":"MUC1","name":"mucin 1, cell surface associated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23396133[PMID]_24509297[PMID]","hgnc":"7508","ensembl":"ENSG00000185499","omim":"158340","loci":["1q22"],"via":{"orpha":88949,"name":"MUC1-related autosomal dominant tubulointerstitial kidney disease"}},{"symbol":"REN","name":"renin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21473025[PMID]","hgnc":"9958","ensembl":"ENSG00000143839","omim":"179820","loci":["1q32.1"],"via":{"orpha":217330,"name":"REN-related autosomal dominant tubulointerstitial kidney disease"}},{"symbol":"UMOD","name":"uromodulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301530[PMID]","hgnc":"12559","ensembl":"ENSG00000169344","omim":"191845","loci":["16p12.3"],"via":{"orpha":88950,"name":"UMOD-related autosomal dominant tubulointerstitial kidney disease"}}],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":121.0,"area":"Worldwide","status":"Validated","source":"12234310[PMID]_23396133[PMID]_29784615[PMID]_32450155[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"11241491[PMID]_15384011[PMID]_29784615[PMID]_ORPHANET"}],"phenotypes":null}