{"orpha":98872,"name":"Primary acquired pure red cell aplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Primary acquired PRCA"],"definition":"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98872/","orphanet_url":"https://www.orpha.net/en/disease/detail/98872","names":{"fr":{"name":"Aplasie pure des globules rouges","synonyms":["Aplasie primaire acquise pure des globules rouges"],"definition":"Anémie aplasique acquise rare caractérisée par une anémie normocytaire sévère avec une numération plaquettaire et un nombre de leucocytes périphériques normaux, une réticulocytopénie, des taux sériques de ferritine élevés et une augmentation de la saturation de transferrine, ainsi qu'une absence isolée, quasi-complète d'érythroblastes dans la moelle osseuse avec une granulopoïèse et une mégacaryopoïèse normales. La maladie se manifeste par des signes d'anémie sévère (fatigue, léthargie, pâleur, intolérance à l'exercice physique et dyspnée d'effort), en l'absence de symptômes hémorragiques."},"de":{"name":"Primäre erworbene reine Aplasie der roten Blutkörperchen","synonyms":["Erworbene reine Erythrozyten-Aplasie","Isolierte aplastische Anämie"],"definition":"Eine seltene erworbene aplastische Anämie, die durch eine schwere normozytäre Anämie mit normalen peripheren Leukozyten- und Thrombozytenzahlen, Retikulozytopenie, hohen Serumferritin- und Transferrinsättigungswerten und isoliertem, fast vollständigem Fehlen von Erythroblasten im Knochenmark mit normaler Granulopoese und Megakaryopoese gekennzeichnet ist. Sie präsentiert sich mit Anzeichen einer schweren Anämie (Müdigkeit, Lethargie, Blässe, Intoleranz gegenüber körperlicher Anstrengung und Belastungsdyspnoe) in Abwesenheit von hämorrhagischen Symptomen."},"es":{"name":"Aplasia de glóbulos rojos pura primaria adquirida","synonyms":["PRCA primaria adquirida"],"definition":"Es una anemia aplásica adquirida poco frecuente caracterizada por anemia normocítica grave con recuentos normales de leucocitos y plaquetas periféricos, reticulocitopenia, niveles elevados de ferritina sérica y de saturación de la transferrina y ausencia aislada, casi completa, de eritroblastos en la médula ósea, con granulopoyesis y megacariopoyesis normales. Se presenta con signos de anemia grave (fatiga, letargia, palidez, intolerancia al ejercicio físico y disnea de esfuerzo) en ausencia de síntomas hemorrágicos."},"it":{"name":"Aplasia eritrocitaria pura primitiva acquisita","synonyms":["PRCA primitiva acquisita"],"definition":"L'aplasia pura eritrocitaria dell'adulto è un'anemia aplastica acquisita rara, caratterizzata da anemia normocitica grave, con leucociti e piastrine numericamente normali nel sangue periferico, reticolocitopenia, livelli elevati di ferritina nel siero e di saturazione della transferrina e assenza pressoché completa degli eritroblasti nel midollo osseo, con normale granulopoiesi e magacariopoiesi. La malattia esordisce con i segni clinici caratteristici dell'anemia grave (affaticamento, letargia, pallore, intolleranza all'esercizio fisico e dispnea da sforzo), in assenza di sintomi emorragici."},"nl":{"name":"Primaire verworven zuivere erytrocytaire aplasie","synonyms":["Primaire verworven PRCA","Primaire verworven zuivere aplasie van rode bloedcel"],"definition":"Een zeldzame, verworven aplastische anemie, gekarakteriseerd door een ernstige normocytaire anemie met normale hoeveelheden perifere leukocyten en bloedplaatjes, reticulocytopenie, hoge gehaltes van ferritine en transferrinesaturatie in serum, en geïsoleerde, bijna volledige afwezigheid van erytroblasten in beenmerg met normale granulopoëse en megakaryopoëse. Het manifesteert zich met tekenen van ernstige anemie (vermoeidheid, lethargie, bleekheid, inspanningsintolerantie en inspanningsdyspneu) in afwezigheid van hemorragische symptomen."},"pt":{"name":"Aplasia pura primária adquirida dos glóbulos vermelhos"},"pl":{"name":"Pierwotna izolowana nabyta aplazja układu czerwonokrwinkowego dorosłych","synonyms":["Primary acquired PRCA"],"definition":"*Pierwotna izolowana nabyta aplazja układu czerwonokrwinkowego dorosłych jest rzadką nabytą niedokrwistością aplastyczną, która charakteryzuje się ciężką anemią normocytarną z prawidłową liczbą leukocytów i płytek krwi, retikulocytopenią, wysokim poziomem ferrytyny i transferyny w surowicy oraz izolowanym, prawie całkowitym brakiem erytroblastów w szpiku kostnym z prawidłową granulo- i megakariopoezą. Objawia się ciężką niedokrwistością (zmęczenie, senność, bladość, nietolerancja wysiłku i duszność wysiłkowa), przy braku objawów skazy krwotocznej."},"cs":{"name":"Čistá aplázie červené řady u dospělých","synonyms":["Primary acquired PRCA"]},"uk":{"name":"Первинна набута чиста еритроцитарна аплазія","synonyms":["Первинна набута PRCA"],"definition":"A rare acquired aplastic anemia characterized by a severe normocytic anemia with normal peripheral leukocyte and platelet counts, reticulocytopenia, high serum ferritin and transferrin saturation levels and isolated, almost complete absence of erythroblasts in the bone marrow with normal granulopoesis and megakaryopoesis. It presents with signs of severe anemia (fatigue, lethargy, pallor, intolerance of physical exercise and exertional dyspnea) in the absence of hemorrhagic symptoms."},"zh":{"name":"成人单纯红细胞再生障碍","synonyms":["Primary acquired PRCA"],"definition":"该病是一种罕见的获得性再生障碍性贫血，特征是外周血白细胞和血小板计数正常，网织红细胞减少，血清铁蛋白和转铁蛋白饱和度高，骨髓中几乎完全没有红细胞，粒细胞和巨核细胞正常。在没有出血症状的情况下，患者出现严重贫血的迹象(乏力、嗜睡、脸色苍白、不耐受体育锻炼和劳力性呼吸困难)。"},"tr":{"name":"Yetişkin saf kırmızı hücre aplazisi","synonyms":["Primary acquired PRCA"]}},"xrefs":[{"source":"ICD-10","code":"D60.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A61","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"45753120"},{"source":"UMLS","code":"C4707560","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10898","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98421,"name":"Primary acquired red cell aplasia","classifications":[194,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}