{"orpha":439224,"name":"ALECT2 amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Leukocyte chemotactic factor-2 amyloidosis"],"definition":"A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-439224/","orphanet_url":"https://www.orpha.net/en/disease/detail/439224","names":{"fr":{"name":"Amylose ALECT2","synonyms":["Amylose à Leucocyte chemotactic factor-2"],"definition":"Amylose systémique rare caractérisée par une maladie rénale à progression lente, se manifestant par une protéinurie, une hypertension et une diminution du taux de filtration glomérulaire, entraînant une insuffisance rénale progressive. L'examen histologique révèle des dépôts amyloïdes de la protéine ALECT2 (leukocyte chemotactic factor-2 protein) dans l'interstitium cortical du rein, la membrane basale des tubules rénaux, les glomérules et les parois des vaisseaux. Des dépôts extra-rénaux peuvent être visibles dans le foie, les poumons, la rate et les glandes surrénales."},"de":{"name":"ALECT2-Amyloidose","synonyms":["ALECT2","Leukozyten-chemotaktischer-Faktor 2-Amyloidose"],"definition":"Eine seltene systemische Form der Amyloidose, die durch eine langsam fortschreitende Nierenerkrankung mit Proteinurie, Bluthochdruck und verminderter glomerulärer Filtrationsrate gekennzeichnet ist, die zu fortschreitendem Nierenversagen führt. Die Histologie zeigt Amyloidablagerungen des Proteins Leukozytenchemotaktischer Faktor 2 im Interstitium der Nierenrinde, in den tubulären Basalmembranen, in den Glomeruli und in den Gefäßwänden. Außerhalb der Nieren können Ablagerungen in der Leber, der Lunge, der Milz und den Nebennieren beobachtet werden."},"es":{"name":"Amiloidosis ALECT2","synonyms":["Amiloidosis de leucocitos quimiotácticos factor-2"],"definition":"Es una amiloidosis sistémica poco frecuente caracterizada por enfermedad renal de progresión lenta que se manifiesta con proteinuria, hipertensión y disminución de la tasa de filtración glomerular, conduciendo a insuficiencia renal progresiva. La histología revela depósitos amiloides del factor quimiotáctico de leucocitos 2 en el intersticio cortical renal, las membranas basales tubulares, los glomérulos y las paredes de los vasos. También se pueden observar depósitos extra-renales en hígado, pulmones, bazo y glándulas suprarrenales."},"it":{"name":"Amiloidosi ALECT2","synonyms":["Amiloidosi da fattore chemiotattico 2 leucocitario"],"definition":"È un'amiloidosi sistemica rara, caratterizzata da una malattia renale a progressione lenta, che esordisce con proteinuria, ipertensione e riduzione del filtrato glomerulare che esita in un'insufficienza renale progressiva. Gli esami istologici evidenziano la presenza di depositi di amiloide della proteina del fattore 2 chemiotattico dei leucociti nell'interstizio della corticale renale, nelle membrane basali tubulari, nei glomeruli e nelle pareti dei vasi. Possono essere presenti depositi extra-renali nel fegato, nei polmoni e nelle ghiandole surrenali."},"nl":{"name":"ALECT2-amyloïdose","synonyms":["Leukocyt chemotactische factor 2-amyloïdose"],"definition":"Een zeldzame, systemische amyloïdose gekarakteriseerd door traag progressieve nierziekte die zich presenteert met proteïnurie, hypertensie en verminderde glomerulaire filtratiesnelheid, wat leidt tot progressief nierfalen. Histologisch onderzoek toont afzetting van amyloïd van het proteïne leukocyt-chemotactische factor-2 in het renale corticale interstitium, de tubulaire basale membranen, de glomeruli en de vaatwanden. Extra-renale afzettingen kunnen waargenomen worden in de lever, longen, milt en bijnieren."},"pt":{"name":"Amiloidose ALECT2"},"pl":{"name":"Amyloidoza ALECT2","synonyms":["Amyloidoza czynnika-2 chemotaktycznego leukocytów"]},"cs":{"name":"ALECT2 amyloidóza","synonyms":["Leukocyte chemotactic factor-2 amyloidosis","Získaná renální amyloidóza","Amyloidóza leukocytárního chemotaktického faktoru-2"]},"uk":{"name":"Амілоїдоз ALECT2","synonyms":["Амілоїдоз лейкоцитарного хемотаксичного фактора-2"],"definition":"A rare, systemic amyloidosis characterized by slowly progressive renal disease presenting with proteinuria, hypertension and decreased glomerular filtration rate leading to progressive renal failure. Histology reveals amyloid deposits of leukocyte chemotactic factor-2 protein in the renal cortical interstitium, tubular basement membranes, glomeruli and the vessel walls. Extra-renal deposits can be seen in the liver, lungs, spleen and adrenal glands."},"zh":{"name":"ALECT2淀粉样变性","synonyms":["白细胞趋化因子2淀粉样变性"],"definition":"一种罕见的全身性淀粉样变性病，特征是缓慢进行性肾脏疾病，伴有蛋白尿，高血压和肾小球滤过率降低，导致进行性肾衰竭。组织学显示肾皮质间质、肾小管基底膜、肾小球和血管壁中有白细胞趋化因子-2蛋白的淀粉样沉积。在肝，肺，脾和肾上腺中也可见沉积物。"},"tr":{"name":"ALECT2 amiloidoz","synonyms":["Lökosit kemotaktik faktör-2 amiloidozis"]}},"xrefs":[{"source":"ICD-10","code":"E85.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1363099940"},{"source":"MONDO","code":"0018588","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680047","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98023,"name":"Rare systemic or rheumatologic disease"},"parents":[{"orpha":69,"name":"Amyloidosis","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-12","source":"34848562[PMID]_36370056[PMID]","terms":[{"hpo":"HP:0012280","label":"Hepatic amyloidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001917","label":"Renal amyloidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003259","label":"Elevated circulating creatinine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0033247","label":"Pulmonary amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012145","label":"Abnormality of multiple cell lineages in the bone marrow","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000815","label":"Amyloid goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002907","label":"Microscopic hematuria","frequency":"Very rare (<4-1%)","criteria":null}]}}