{"orpha":88659,"name":"Autosomal dominant progressive nephropathy with hypertension","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-88659/","orphanet_url":"https://www.orpha.net/en/disease/detail/88659","names":{"fr":{"name":"Néphropathie progressive avec hypertension autosomique dominante","definition":"Hypertension artérielle de cause génétique rare, caractérisée par l'apparition, à l'âge adulte, d'une augmentation de la tension artérielle associée à une néphropathie évoluant vers une insuffisance rénale au stade terminal. La biopsie rénale peut révéler une fibrose interstitielle, une glomérulosclérose et une atrophie tubulaire légère. Une élévation de la créatinine sérique et de la protéinurie a également été rapportée."},"de":{"name":"Nephropathie, progressive mit Hypertension, autosomal-dominante Form","definition":"Eine seltene Form der genetisch bedingten Hypertonie, bei der im Erwachsenenalter ein erhöhter Blutdruck auftritt, der mit einer Nephropathie einhergeht, die zu einer Nierenerkrankung im Endstadium führt. Eine Nierenbiopsie kann interstitielle Fibrose, Glomerulosklerose und leichte tubuläre Atrophie zeigen. Erhöhte Serumkreatininwerte und Proteinurie wurden ebenfalls berichtet."},"es":{"name":"Nefropatía progresiva con hipertensión autosómica dominante","definition":"Es una hipertensión genética y poco frecuente caracterizada por un aumento de la presión arterial de inicio en el adulto asociada a nefropatía que progresa a enfermedad renal terminal. La biopsia renal puede presentar fibrosis intersticial, glomeruloesclerosis y leve atrofia tubular. También se ha descrito un incremento de la creatinina sérica y proteinuria."},"it":{"name":"Nefropatia progressiva con ipertensione autosomica dominante","definition":"È un'ipertensione genetica rara ad esordio nell'età adulta, caratterizzata da un aumento della pressione sanguigna associato a nefropatia che progredisce verso la malattia renale terminale. La biopsia renale evidenzia fibrosi interstiziale, glomerulosclerosi ed atrofia tubolare lieve. Sono stati descritti pazienti con aumento dei livelli di creatina nel siero e proteinuria."},"nl":{"name":"Autosomaal dominante progressieve nefropathie met hypertensie","definition":"Een zeldzame, genetische hypertensie, gekarakteriseerd door aanvang in de volwassenheid van verhoogde bloeddruk geassocieerd met nefropathie die evolueert tot terminaal nierfalen. Analyse van nierbiopten toont mogelijk interstitiële fibrose, glomerulosclerose en milde tubulaire atrofie. Een verhoogd creatininegehalte in serum en proteïnurie werden ook reeds gerapporteerd."},"pt":{"name":"Nefropatia progressiva com hipertensão autossómica dominante"},"pl":{"name":"Autosomalna dominująca prostępująca nefropatia z nadciśnieniem"},"cs":{"name":"Autozomálně dominantní progresivní nefropatie s hypertenzí"},"uk":{"name":"Аутосомно-домінантна прогресуюча нефропатія з гіпертензією","definition":"A rare, genetic hypertension characterized by an adult onset of increased blood pressure associated with nephropathy progressing to end-stage renal disease. Renal biopsy may show interstitial fibrosis, glomerulosclerosis and mild tubular atrophy. Increased serum creatinine and proteinuria have also been reported."},"zh":{"name":"常染色体显性遗传进行性肾病伴高血压"},"tr":{"name":"Hipertansiyon ile seyreden otozomal dominant ilerleyici nefropati"}},"xrefs":[{"source":"OMIM","code":"161900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"I15.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"BA04.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1997246041"},{"source":"MONDO","code":"0008071","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3839782","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156629,"name":"Rare genetic cause of hypertension","classifications":[156,188]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"10930359 [PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_10930359 [PMID]"}],"phenotypes":null}