{"orpha":97598,"name":"Congenital renal artery stenosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital renovascular hypoplasia"],"definition":"A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-97598/","orphanet_url":"https://www.orpha.net/en/disease/detail/97598","names":{"fr":{"name":"Sténose congénitale de l'artère rénale","synonyms":["Hypoplasie rénovasculaire congénitale"],"definition":"Maladie rénale rare caractérisée par le rétrécissement congénital, bilatéral ou unilatéral, de l'artère rénale, entraînant une hypertension artérielle sévère et une insuffisance rénale progressive chez le nouveau-né. Les manifestations comprennent une encéphalopathie hypertensive et/ou des signes et symptômes neurologiques dus à une hyponatrémie, une perte d'électrolytes par voie rénale, une protéinurie et une hématurie."},"de":{"name":"Nierenarterienstenose, kongenitale","definition":"Eine seltene Nierenerkrankung, die durch eine angeborene ein- oder beidseitige Verengung der Nierenarterie gekennzeichnet ist und zu schwerem arteriellem Bluthochdruck und fortschreitendem Nierenversagen bei Neugeborenen führt. Zu den Manifestationen gehören hypertensive Enzephalopathie und/oder neurologische Anzeichen und Symptome aufgrund von Hyponatriämie, Polyurie, renalem Elektrolytverlust, Proteinurie und Hämaturie."},"es":{"name":"Estenosis arterial renal congénita","synonyms":["Hipoplasia renovascular congénita","Hipoplasia vascular-renal congénita"],"definition":"Es una enfermedad renal poco frecuente caracterizada por un estrechamiento congénito uni- o bilateral de la arteria renal, resultando en grave hipertensión arterial e insuficiencia renal progresiva en el neonato. Las manifestaciones incluyen encefalopatía hipertensiva y/o signos y síntomas neurológicos a consecuencia de la hiponatremia, poliuria, pérdida renal de electrolitos, proteinuria y hematuria."},"it":{"name":"Stenosi congenita dell'arteria renale","synonyms":["Ipoplasia renovascolare congenita"],"definition":"Si tratta di una nefropatia rara, caratterizzata da un restringimento congenito mono- o bilaterale dell'arteria renale, che esita in una grave ipertensione arteriosa e nell'insufficienza renale progressiva nel neonato. I segni clinici comprendono l'encefalopatia ipertensiva e/o sintomi neurologici secondari all'iponatriemia, alla poliuria, alla perdita di elettroliti attraverso i reni, alla proteinuria e all'ematuria."},"nl":{"name":"Congenitale nierarteriestenose","synonyms":["Congenitale renovasculaire hypoplasie","Congenitale stenose van arteria renalis"],"definition":"Een zeldzame aandoening van nier, gekenmerkt door congenitale unilaterale of bilaterale vernauwing van nierslagader, wat leidt tot ernstige arteriële hypertensie en progressief nierfalen bij neonaten. Manifestaties zijn onder meer hypertensieve encefalopathie en/of neurologische verschijnselen en symptomen ten gevolge van hyponatriëmie, polyurie, verlies van elektrolyten uit de nier, proteïnurie, en hematurie."},"pt":{"name":"Estenose congénita da artéria renal"},"pl":{"name":"Wrodzone zwężenie tętnicy nerkowej","synonyms":["Wrodzona hipoplazja nerkowo-naczyniowa"]},"cs":{"name":"Vrozená stenóza renální arterie","synonyms":["Vrozená renovaskulární hypoplázie"]},"uk":{"name":"Вроджений стеноз ниркової артерії","synonyms":["Вроджена реноваскулярна гіпоплазія"],"definition":"A rare renal disease characterized by congenital unilateral or bilateral narrowing of the renal artery leading to severe arterial hypertension and progressive renal failure in the neonate. Manifestations include hypertensive encephalopathy and/or neurological signs and symptoms due to hyponatremia, polyuria, renal electrolyte loss, proteinuria, and hematuria."},"zh":{"name":"先天性肾动脉狭窄","synonyms":["先天性肾血管发育不良"]},"tr":{"name":"Doğumsal renal arter darlığı","synonyms":["Doğumsal renovasküler hipoplazi"]}},"xrefs":[{"source":"ICD-10","code":"Q27.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LA90.40","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"856359002"},{"source":"MONDO","code":"0019993","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0495523","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93618,"name":"Rare cause of hypertension","classifications":[188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":458844,"name":"Rare vascular malformation of major vessels","classifications":[147,198]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[],"phenotypes":null}