{"orpha":329481,"name":"Lipoprotein glomerulopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["LPG"],"definition":"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-329481/","orphanet_url":"https://www.orpha.net/en/disease/detail/329481","names":{"fr":{"name":"Glomérulopathie lipoprotéinique","synonyms":["LPG","Glomérulopathie à lipoprotéines"],"definition":"Maladie rénale rare d'origine génétique caractérisée par la formation de thromboses lipoprotéiques intraglomérulaires causée par un dépôt de lipides dans les capillaires glomérulaires sévèrement dilatés. Les examens biologiques révèlent des taux lipidiques sériques anormaux, en particulier une apolipoprotéine E nettement élevée. Les signes cliniques sont une protéinurie ou un syndrome néphrotique avec hypertension et une évolution éventuelle vers une insuffisance rénale chronique. Les complications systémiques de la dyslipidémie ne sont pas observées."},"de":{"name":"Lipoprotein-Glomerulopathie","synonyms":["LPG"],"definition":"Eine seltene genetisch bedingte Nierenerkrankung, die durch die Bildung von intraglomerulären Lipoprotein-Thromben aufgrund von Lipidablagerungen in stark erweiterten glomerulären Kapillaren gekennzeichnet ist. Bei der Laboruntersuchung zeigen sich abnorme Serumlipidprofile, insbesondere ein deutlich erhöhtes Apolipoprotein E. Zu den klinischen Manifestationen gehören Proteinurie oder ein nephrotisches Syndrom mit Bluthochdruck und einer möglichen Progression zu chronischem Nierenversagen. Systemische Komplikationen der Dyslipidämie werden nicht beobachtet."},"es":{"name":"Glomerulopatía por lipoproteínas","synonyms":["LPG"],"definition":"Es una enfermedad renal poco frecuente de base genética caracterizada por la formación de trombos de lipoproteínas intraglomerulares causados por depósitos lipídicos en capilares glomerulares gravemente dilatados. Las pruebas de laboratorio muestran perfiles de lípidos séricos anómalos, en particular niveles significativamente elevados de apolipoproteína E. Las manifestaciones clínicas incluyen proteinuria o síndrome nefrótico con hipertensión y una posible progresión a insuficiencia renal crónica. No se observan complicaciones sistémicas derivadas de la dislipidemia."},"it":{"name":"Glomerulopatia da lipoproteine","synonyms":["LPG"],"definition":"Si tratta di una nefropatia genetica rara, caratterizzata dalla formazione di trombi lipoproteici intraglomerulari causati dal deposito di lipidi nei capillari glomerulari marcatamente dilatati. Gli esami di laboratorio evidenziano profili lipidici anomali nel siero, in particolare livelli molto elevati dell'apolipoproteina E. I segni clinici comprendono la proteinuria o la sindrome nefrosica con ipertensione e potenziale progressione verso l'insufficienza renale cronica. I pazienti non presentano le complicanze sistemiche della dislipidemia."},"nl":{"name":"Lipoproteïne-glomerulopathie","synonyms":["LPG"],"definition":"Een zeldzame, genetische aandoening van nier, gekarakteriseerd door vorming van intraglomerulaire trombi uit lipoproteïne als gevolg van afzetting van lipiden in ernstig gedilateerde glomerulaire capillairen. Laboratoriumonderzoek toont abnormaal lipidenprofiel in serum, vooral opvallend verhoogd gehalte van apolipoproteïne E. Klinische manifestaties zijn onder meer proteïnurie of nefrotisch syndroom met hypertensie en potentieel progressie naar chronisch nierfalen. Systemische complicaties van dyslipidemie worden niet waargenomen."},"pt":{"name":"Glomerulopatia por lipoproteínas"},"pl":{"name":"Glomerulopatia lipoproteinowa","synonyms":["LPG"]},"cs":{"name":"Lipoproteinová glomerulopatie","synonyms":["LPG"]},"uk":{"name":"Ліпопротеїдна гломерулопатія","synonyms":["LPG"],"definition":"A rare genetic renal disease characterized by the formation of intraglomerular lipoprotein thrombi due to lipid deposition in severely dilated glomerular capillaries. Laboratory examination reveals abnormal serum lipid profiles, in particular markedly elevated apolipoprotein E. Clinical manifestations include proteinuria or nephrotic syndrome with hypertension and potential progression to chronic renal failure. Systemic complications of dyslipidemia are not observed."},"zh":{"name":"脂蛋白肾小球病","synonyms":["LPG病"]},"tr":{"name":"Lipoprotein glomerülopati","synonyms":["LPG"]}},"xrefs":[{"source":"OMIM","code":"611771","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"N07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"MF82","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"69778702"},{"source":"MONDO","code":"0012725","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567089","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673196","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":183586,"name":"Genetic glomerular disease","classifications":[156]},{"orpha":93548,"name":"Glomerular disease","classifications":[188,233]},{"orpha":181437,"name":"Rare syndromic dyslipidemia","classifications":[150,156,193]}],"children":[],"genes":[{"symbol":"APOE","name":"apolipoprotein E","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21464714[PMID]","hgnc":"613","ensembl":"ENSG00000130203","omim":"107741","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24149835[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"24149835[PMID]"}],"phenotypes":null}