{"orpha":93557,"name":"Light and heavy chain deposition disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["LHCDD"],"definition":"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93557/","orphanet_url":"https://www.orpha.net/en/disease/detail/93557","names":{"fr":{"name":"Maladie de dépôt des chaînes légères et lourdes","definition":"Maladie rare des dépôts d'immunoglobuline monoclonale non amyloïde caractérisée par la sécrétion de chaînes légères et lourdes anormales, qui forment des dépôts dans les tissus et qui sont à l'origine d'un dysfonctionnement des organes, mais sans organisation en feuillets bêta-amyloïdes et sans composant-P amyloïde. Dans la plupart des cas, la maladie est associée à un myélome multiple et touche le plus souvent les reins (dont les signes cliniques sont un syndrome néphrotique et une insuffisance rénale). Le foie, le coeur, les nerfs périphériques, les vaisseaux sanguins et les articulations peuvent toutefois être également atteints."},"de":{"name":"Leichtketten- und Schwerketten-Speicherkrankheit","synonyms":["LHCDD"],"definition":"Eine nicht-amyloide monoklonale Immunglobulin-Speicherkrankheit, die durch die Sekretion abnormaler leichter und schwerer Ketten gekennzeichnet ist, die sich im Gewebe ablagern und Organdysfunktionen verursachen, aber keine Amyloid-Beta-Faltblätter bilden oder eine Amyloid-P-Komponente enthalten. Die Erkrankung tritt am häufigsten in Verbindung mit dem Multiplen Myelom auf. Am häufigsten sind die Nieren betroffen (klinisch manifestiert sich dies als nephrotisches Syndrom und Nierenversagen), aber auch Leber, Herz, periphere Nerven, Blutgefäße und Gelenke können betroffen sein."},"es":{"name":"Enfermedad por depósito de cadenas pesadas y ligeras","definition":"Es una enfermedad poco frecuente por depósito de inmunoglobulina monoclonal no amiloide que se caracteriza por la secreción de cadenas ligeras y pesadas anómalas, que se depositan en los tejidos y causan disfunción orgánica, pero que no forman láminas plegadas de beta amiloide ni contienen un componente P amiloide. La afección se presenta con mayor frecuencia en asociación con mieloma múltiple. El riñón es el órgano más comúnmente afectado (que se manifiesta clínicamente como síndrome nefrótico e insuficiencia renal), pero también pueden estar afectados el hígado, el corazón, los nervios periféricos, los vasos sanguíneos y las articulaciones."},"it":{"name":"Malattia da deposito di catene leggere e pesanti","synonyms":["LHCDD"],"definition":"Si tratta di una malattia rara da deposito di immunoglobuline monoclonali non amiloidi, caratterizzata dalla secrezione di catene anomale leggere e pesanti, che si depositano nei tessuti causando la disfunzione d'organo, ma non formano foglietti beta pieghettati né contengono una componente amiloide P. Di solito la malattia si associa al mieloma multiplo e in genere colpisce i reni (sotto forma di sindrome nefrosica e insufficienza renale), ma può interessare anche il fegato, il cuore, i nervi periferici, i vasi sanguigni e le articolazioni."},"nl":{"name":"Lichte- en zwareketendepositieziekte","synonyms":["LHCDD"],"definition":"Een zeldzame aandoening met depositie van niet-amyloïde monoklonale immunoglobulinen, gekenmerkt door secretie van abnormale lichte en zware ketens, die worden afgezet in weefsels en orgaandisfunctie veroorzaken, maar die geen amyloïde bèta-platen vormen of een amyloïd P-component bevatten. De aandoening komt het vaakst voor in associatie met multipel myeloom. Doorgaans worden de nieren aangetast (wat zich klinisch manifesteert als nefrotisch syndroom en nierfalen), maar lever, hart, perifere zenuwen, bloedvaten, en gewrichten kunnen ook betrokken zijn."},"pt":{"name":"Doença de deposição de cadeias leves e pesadas","definition":"Doença rara de deposição de imunoglobulina monoclonal não amilóide caracterizada pela secreção de cadeias leves e pesadas anómalas que surgem em depósitos nos tecidos e causam disfunção orgânica, mas não formam lâminas pregueadas de beta amilóide ou contêm um componente P amilóide. A doença ocorre com mais frequência em associação com mieloma múltiplo. Os rins habitualmente estão afetados (manifestando-se clinicamente como síndrome nefrótica e insuficiência renal), no entanto o fígado, coração, nervos periféricos, vasos sanguíneos e articulações também podem estar envolvidos."},"pl":{"name":"Choroba deponowania łańcuchów lekkich i ciężkich","synonyms":["LHCDD"]},"cs":{"name":"Nemoc z depozice lehkých a těžkých řetězců","synonyms":["LHCDD"]},"uk":{"name":"Хвороба відкладення легких та важких ланцюгів","synonyms":["LHCDD"],"definition":"A rare non-amyloid monoclonal immunoglobulin deposition disease characterized by secretion of abnormal light and heavy chains, which are deposited in tissues and cause organ dysfunction, but do not form amyloid beta-pleated sheets or contain an amyloid P component. The condition most frequently occurs in association with multiple myeloma. The kidneys are most commonly affected (clinically manifesting as nephrotic syndrome and renal failure), but liver, heart, peripheral nerves, blood vessels, and joints may also be involved."},"zh":{"name":"轻-重链沉积病","synonyms":["LHCDD"]},"tr":{"name":"Hafif ve ağır zincir birikimi hastalığı","synonyms":["LHCDD"]}},"xrefs":[{"source":"ICD-10","code":"D89.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2A83.51","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1815409370"},{"source":"MONDO","code":"0019729","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5204117","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":86861,"name":"Non-amyloid monoclonal immunoglobulin deposition disease","classifications":[188,194,202,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}