{"orpha":442582,"name":"AH amyloidosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Heavy chain amyloidosis"],"definition":"A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-442582/","orphanet_url":"https://www.orpha.net/en/disease/detail/442582","names":{"fr":{"name":"Amylose AH","synonyms":["Amylose à chaîne lourde"],"definition":"Amylose rare et systémique caractérisée par l'agrégation et le dépôt de fibrilles amyloïdes composées de fragments de chaînes lourdes d'immunoglobulines monoclonales, généralement produites par un néoplasme plasmocytaire. Ces dépôts s'observent dans divers organes, le plus souvent dans les reins. La maladie touche généralement les patients âgés et les signes et symptômes composant le tableau clinique sont un dysfonctionnement rénal, donnant lieu dans certains cas au syndrome néphrotique et à l'insuffisance rénale terminale. Des atteintes cardiaques, hépatiques et nerveuses ont également été décrites."},"de":{"name":"AH-Amyloidose","synonyms":["Schwerketten-Amyloidose"],"definition":"Eine seltene, systemische Amyloidose, die durch die Aggregation und Ablagerung von Amyloidfibrillen gekennzeichnet ist, die aus monoklonalen Fragmenten der schweren Immunglobulinkette bestehen und in der Regel von Plasmazell-Neoplasien produziert werden. Amyloidfibrillen lagern sich in verschiedenen Organen ab, am häufigsten in den Nieren. In der Regel sind ältere Patienten betroffen, und die klinische Präsentation umfasst Anzeichen und Symptome einer Nierenfunktionsstörung, die manchmal zu einem nephrotischen Syndrom und einer Nierenerkrankung im Endstadium führt. Auch eine Beteiligung von Herz, Leber und Nerven ist beschrieben worden."},"es":{"name":"Amiloidosis AH","synonyms":["Amiloidosis de cadena pesada"],"definition":"Es una amiloidosis sistémica poco frecuente caracterizada por el acúmulo y depósito de fibrillas amiloides compuestas por fragmentos de cadena pesada de inmunoglobulinas monoclonales, por lo general producidos por una neoplasia de células plasmáticas. Las fibrillas amiloides se depositan en varios órganos, siendo los riñones los órganos afectados con mayor frecuencia. Por lo general, afecta a individuos en la edad adulta tardía y la presentación clínica incluye signos y síntomas de disfunción renal que a menudo evoluciona a síndrome nefrótico y a enfermedad renal terminal. También se ha descrito afectación cardíaca, hepática y del sistema nervioso."},"it":{"name":"Amiloidosi AH","synonyms":["Amiloidosi da catene pesanti"],"definition":"Si tratta di un'amiloidosi sistemica rara, caratterizzata dall'aggregazione e dall'accumulo di fibrille di amiloide, composte da frammenti delle catene pesanti dell'immunoglobulina monoclonale, di solito prodotti da una neoplasia delle plasmacellule. Le fibrille di amiloide si depositano in diversi organi, ma soprattutto nei reni. Di solito la malattia colpisce i pazienti anziani. Il quadro clinico comprende i sintomi della disfunzione renale, che talvolta esitano nella sindrome nefrosica e nella malattia renale terminale. I pazienti possono presentare anche un interessamento cardiaco, epatico e del sistema nervoso."},"nl":{"name":"AH-amyloïdose","synonyms":["Zwareketenamyloïdose"],"definition":"Een zeldzame, systemische amyloïdose, gekenmerkt door aggregatie en depositie van amyloïdfibrillen bestaande uit fragmenten van monoklonale zware immunoglobulineketens, doorgaans geproduceerd door een neoplasma van plasmacellen. Amyloïdfibrillen slaan neer in verschillende organen, meestal in de nieren. De ziekte treft doorgaans oudere patiënten, en de klinische presentatie omvat verschijnselen en symptomen van nierdisfunctie, soms met nefrotisch syndroom en terminaal nierfalen tot gevolg. Betrokkenheid van hart, lever en zenuwen werd ook reeds beschreven."},"pt":{"name":"Amiloidose AH","definition":"Amiloidose sistémica rara caracterizada pela agregação e deposição de fibrilhas amilóides compostas por fragmentos de cadeia pesada de imunoglobulina monoclonal, geralmente produzida por uma neoplasia de células plasmáticas. As fibrilas amilóides depositam-se em vários órgãos, em particular nos rins. Habitualmente afeta doentes mais idosos e o quadro clínico inclui sinais e sintomas de disfunção renal, progredindo por vezes para uma síndrome nefrótica e doença renal em estágio terminal. O envolvimento cardíaco, hepático e neuronal também foi descrito."},"pl":{"name":"Amyloidoza AH","synonyms":["Amyloidoza immunoglobulinowa","Amyloidoza łańcuchów ciężkich"]},"cs":{"name":"AH amyloidóza","synonyms":["Amyloidóza těžkých řetězců"]},"uk":{"name":"Амілоїдоз при гіпертонічній хворобі","synonyms":["Амілоїдоз важких ланцюгів"],"definition":"A rare, systemic amyloidosis characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. Amyloid fibrils deposit in various organs, most commonly in the kidneys. It typically affects older patients and clinical presentation includes signs and symptoms of renal dysfunction, sometimes leading to nephrotic syndrome and end stage renal disease. Cardiac, liver and nerves involvement has also been described."},"zh":{"name":"AH淀粉样变性","synonyms":["中联淀粉样变性"],"definition":"罕见的全身性淀粉样变性病，特征在于通常由浆细胞瘤产生的由单克隆免疫球蛋白重链片段组成的淀粉样原纤维的聚集和沉积。淀粉样蛋白原纤维沉积在各种器官中，最常见于肾脏。它通常会影响老年患者，临床表现包括肾功能不全的体征和症状，有时会导致肾病综合征和终末期肾脏疾病。还描述了心脏，肝脏和神经受累。"},"tr":{"name":"AH amiloidoz","synonyms":["Ağır zincir amiloidozu"]}},"xrefs":[{"source":"ICD-10","code":"E85.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5D00.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1511136608"},{"source":"MONDO","code":"0018613","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5204115","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]},{"orpha":567558,"name":"Non-genetic systemic disease with glomerulopathy as a major feature","classifications":[188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"20876678[PMID]_23302715[PMID]_23446254[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_20876678[PMID]_23302715[PMID]_23446254[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-12","source":"38455688[PMID]_33713540[PMID]","terms":[{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100292","label":"Amyloidosis of peripheral nerves","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030843","label":"Cardiac amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031185","label":"Increased circulating NT-proBNP concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031047","label":"Paraproteinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001917","label":"Renal amyloidosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null}]}}