{"orpha":91136,"name":"Acquired monoclonal Ig light chain-associated Fanconi syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Acquired Fanconi syndrome secondary to monoclonal gammopathy","Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome"],"definition":"A rare monoclonal gammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91136/","orphanet_url":"https://www.orpha.net/en/disease/detail/91136","names":{"fr":{"name":"Syndrome de Fanconi acquis associé à la chaine légère des Ig monoclonales","synonyms":["Syndrome de Fanconi acquis associé à la chaine légère des immunoglobulines monoclonales","Syndrome de Fanconi acquis secondaire à une gammapathie monoclonale"],"definition":"Gammapathie monoclonale rare caractérisée par un dysfonctionnement des tubules rénaux proximaux secondaire à des dépôts de chaines légères kappa monoclonales dans les cellules tubulaires. Elle se manifeste par une maladie rénale chronique (MRC) de sévérité variable, une protéinurie de bas poids moléculaire, une aminoacidurie, une hyperphosphaturie, une uricosurie, une bicarbonaturie et une glycosurie normoglycémique. La fuite urinaire de phosphates et d'acide urique peut entraîner une hypophosphatémie et une hypo-uricémie."},"de":{"name":"Erworbenes monoklonales lg-Leichtketten-assoziiertes Fanconi-Syndrom","synonyms":["Sekundäres Fanconi-Syndrom als Folge monoklonaler Gammopathie"],"definition":"Eine monoklonale Gammopathie, die durch eine Dysfunktion des proximalen Nierentubulus gekennzeichnet ist, sekundär zu monoklonalen Kappa-Leichtketten-Ablagerungen in proximalen Tubuluszellen. Die klinische Präsentation ist mit variabler chronischer Nierenerkrankung, niedermolekularer Proteinurie, Aminosäureurie, Hyperphosphaturie, Urikosurie, Bikarbonaturie und nicht-diabetischer Glykosurie. Der renale Phosphat- und Uratverlust kann zu Hypophosphatämie und Hypourikämie führen."},"es":{"name":"Síndrome de Fanconi secundario a gammapatía monoclonal de cadenas ligeras","synonyms":["Síndrome de Fanconi adquirido asociado a Ig monoclonal de cadenas ligeras","Síndrome de Fanconi adquirido asociado a inmunoglobulina monoclonal de cadena ligera","Síndrome de Fanconi adquirido secundario a una gammapatía monoclonal"],"definition":"Es una gammopatía monoclonal poco frecuente caracterizada por disfunción tubular renal proximal secundaria a los depósitos de inmunoglobulina (Ig) monoclonal de cadenas ligeras kappa en la célula tubular proximal. La presentación clínica cursa con enfermedad renal crónica variable, proteinuria de bajo peso molecular, aminoaciduria, hiperfosfaturia, uricosuria, bicarbonaturia y glucosuria no diabética. La pérdida renal de fosfato y urato pueden causar hipofosfatemia e hipouricemia."},"it":{"name":"Sindrome di Fanconi associata alla acquisizione di catene leggere Ig monoclonali","synonyms":["Sindrome di Fanconi associata al mieloma","Sindrome di Fanconi associata alle catene leggere kappa delle Ig monoclonali"],"definition":"Si tratta di una rara discrasia delle plasmacellule, caratterizzata dalla disfunzione dei tubuli renali prossimali, secondaria alla formazione di depositi di catene leggere kappa monoclonali nelle cellule dei tubuli prossimali. Il quadro clinico comprende una malattia renale cronica di grado variabile, la proteinuria a basso peso molecolare, l'aminoaciduria, l'iperfosfaturia, l'uricosuria, la bicarbonaturia e la glicosuria non diabetica. La perdita renale di fosfati e di urati può causare ipofosfatemia e ipouricemia."},"nl":{"name":"Verworven syndroom van Fanconi geassocieerd met monoklonale Ig lichte ketens","synonyms":["Verworven syndroom van Fanconi geassocieerd met monoklonale immunoglobuline lichte ketens","Verworven syndroom van Fanconi secundair aan monoklonale gammopathie"],"definition":"Een zeldzame monoklonale gammopathie, gekarakteriseerd door disfunctie van proximale niertubulus secundair aan afzetting van monoklonale kappa lichte ketens in proximale tubulaire cellen. De klinische presentatie omvat variabele chronische nierziekte, proteïnurie van eiwitten met laag moleculair gewicht, aminoacidurie, hyperfosfaturie, uricosurie, bicarbonaturie, en niet-diabetische glucosurie. Renaal verlies van fosfaat en uraat kan hypofosfatemie en hypo-urikemie veroorzaken."},"pt":{"name":"Síndrome de Fanconi"},"pl":{"name":"Zespół Fanconiego związany z monoklonalnymi lekkimi łańcuchami Ig","synonyms":["Zespół Fanconiego ze szpiczakiem","Zespół Fanconiego związany z lekkimi łańcuchami kappa"]},"cs":{"name":"Získaný Fanconiho syndrom asociovaný s lehkými řetězci monoklonálních imunoglobulinů","synonyms":["Získaný Fanconiho syndrom způsobený monoklonální gamapatií"]},"uk":{"name":"Набутий синдром Фанконі, асоційований з легким ланцюгом моноклонального Ig","synonyms":["Набутий синдром Фанконі, вторинний до моноклональної гамопатії","Набутий моноклональний імуноглобулін легкого ланцюга, асоційований з синдромом Фанконі"],"definition":"A rare monoclonalgammopathy characterized by renal proximal tubule dysfunction secondary to monoclonal kappa light chain deposits in proximal tubular cells. Clinical presentation is with variable chronic kidney disease, low molecular weight proteinuria, aminoaciduria, hyperphosphaturia, uricosuria, bicarbonaturia, and non-diabetic glycosuria. Renal phosphate and urate wasting may cause hypophosphatemia and hypouricaemia."},"zh":{"name":"获得性单克隆免疫球蛋白轻链相关性范科尼综合征","synonyms":["获得性单克隆免疫球蛋白轻链相关的Fanconi综合征"]},"tr":{"name":"Edinsel monoklonal Ig hafif zincir-ilişkili Fanconi sendromu","synonyms":["Monoklonal gammopatiye sekonder edinsel Fanconi sendromu","Edinsel monoklonal immünoglobulin hafif zincir ile ilişkili Fanconi sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E72.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB90.42","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0019604","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510369","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":93603,"name":"Rare renal tubular disease","classifications":[188]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adult","Elderly"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":null}