A proteína de Bence Jones é uma proteína monoclonal ou imunoglobulina de cadeia leve encontrado na urina, com um peso molecular de 22 a 24 kDa. A presença da proteína de Bence Jones na urina pode ser sugestiva de mieloma múltiplo ou Macroglobulinemia de Waldenstrom.
Introdução
O que você precisa saber de cara
Doença rara caracterizada pelo acúmulo de amiloide (proteína anormal) em órgãos e tecidos, levando a disfunção progressiva. Afeta múltiplos sistemas, como coração, rins e nervos, com sintomas variados.
Tem tratamento?
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Amiloidose sistêmica primária
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Publicações mais relevantes
Cutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
Amyloidosis is formed following deposition of protein aggregates and is classified by systemic or cutaneous deposition. These aggregates can be distributed in different organs such as the heart, liver, lungs, kidneys, and skin. Primary cutaneous amyloidosis has been classified into three groups: macular, lichen, and nodular, the former two being one often overlapping process, and the latter a localized plasma dyscrasia with a small risk of representing a systemic disease. Historically, cutaneous amyloidosis has been misdiagnosed, and most treatment regimens have been ineffective or only provide supportive management, such as decreasing pruritus. The current standard of care, high-potency corticosteroids, can provide symptomatic relief. Newer therapies may decrease amyloid deposition and progression of disease.
Heavy Chains, Heavy Consequences: A Case of Concomitant Heavy Chain Amyloidosis and Heavy Chain Deposition Disease.
Heavy chain (AH) amyloidosis is a rare form of primary systemic amyloidosis that predominantly affects the kidneys and can lead to nephrotic syndrome. It is marked by the deposition of amyloid fibrils derived from immunoglobulin (Ig)-heavy chains. Monoclonal immunoglobulin deposition disease is a similarly rare disorder involving deposition of nonfibrillar and Congo red-negative monotypic Ig molecules in basement membranes. It can be derived from Ig light chains, Ig heavy chains, or Ig light and heavy chains. Cases of combined amyloidosis and monoclonal immunoglobulin deposition disease are exceedingly rare. Only a handful of concomitant amyloidosis and heavy chain deposition disease have been previously reported, and the spectrum of such diagnoses is poorly described. We describe a case of concomitant IgG4-type AH amyloidosis and heavy chain deposition disease in an 83-year-old man with a history of Agent Orange exposure who developed nephrotic syndrome resulting in diuretic-resistant anasarca. A subsequent bone marrow biopsy demonstrated a λ-restricted plasma cell population. The patient was initiated on hemodialysis and chemotherapy, resulting in clinical stabilization. This case report also contrasts AH amyloidosis with other forms of amyloidosis, emphasizing its unique clinical features, diagnostic challenges, and management considerations.
Amyloid associated alopecia: A case report and review of the literature.
Primary systemic amyloidosis is a condition marked by the extracellular deposition of amyloid proteins within various organ systems in the body. Although cutaneous involvement is well-described, scalp involvement in the form of alopecia is rarely reported. We report a case of amyloid associated alopecia confirmed by histologic analysis to highlight this rare scalp manifestation associated with systemic amyloidosis.
Primary Systemic Amyloidosis Characterized by Multiple Keratinous Cysts: A Case Report.
A 67-year-old male presented with plaques around the orbit and ecchymosis on the neck and back of hands for 2 years. Physical examination showed seborrheic-keratosis-like plaques around the orbit, ecchymosis on the neck and back of hands, as well as nail dystrophy. Serum λ light chain was positive. Histopathological examination demonstrated multiple keratinous cysts in the dermis and eosinophilic homogeneous material in the dermis, which was positive for Congo red with apple-green birefringence on polarized light. Kidney biopsy showed deposition of acellular eosinophilic material in the arteriole wall. Congo red staining was positive. A bone marrow biopsy revealed multiple myeloma. The diagnosis of primary systemic amyloidosis with multiple myeloma was made.
Primary systemic amyloidosis: A brief overview.
Primary systemic amyloidosis, or light chain (AL) amyloidosis, is a rare lymphoproliferative disorder in which aberrant light-chain immunoglobulins secreted into the bloodstream aggregate into fibrils and deposit into tissues, causing widespread organ damage and, if not treated, death. This review provides a comprehensive summary of the pathophysiology and manifestations of AL amyloidosis; standard-of-care diagnostic approach; typical treatment regimens; and areas of active investigation.
Publicações recentes
Cutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
Heavy Chains, Heavy Consequences: A Case of Concomitant Heavy Chain Amyloidosis and Heavy Chain Deposition Disease.
Amyloid associated alopecia: A case report and review of the literature.
Pinch Purpura: A Clinical Clue to Primary Systemic Amyloidosis.
Primary Systemic Amyloidosis Characterized by Multiple Keratinous Cysts: A Case Report.
📚 EuropePMC333 artigos no totalmostrando 65
Cutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
Dermatology (Basel, Switzerland)Heavy Chains, Heavy Consequences: A Case of Concomitant Heavy Chain Amyloidosis and Heavy Chain Deposition Disease.
Kidney medicineAmyloid associated alopecia: A case report and review of the literature.
Dermatology online journalPinch Purpura: A Clinical Clue to Primary Systemic Amyloidosis.
Indian dermatology online journalPrimary Systemic Amyloidosis Characterized by Multiple Keratinous Cysts: A Case Report.
Journal of cutaneous pathologyPrimary systemic amyloidosis: A brief overview.
Presse medicale (Paris, France : 1983)[MOTOR NEUROPATHY PRECEDING PRIMARY SYSTEMIC AMYLOIDOSIS].
HarefuahPrimary Systemic Amyloidosis with Multisystem Involvement: A Case Report.
Indian dermatology online journalPrimary Systemic Amyloidosis: A Case Report.
JNMA; journal of the Nepal Medical AssociationSpontaneous ecchymoses and conjunctival deposits in primary systemic amyloidosis.
Indian journal of dermatology, venereology and leprologyHepatic Involvement as the Sole Presentation of Systemic Amyloid Light Chain (AL) Amyloidosis: A Diagnostic Challenge.
CureusPinch Purpura in Adult Colloid Milium-A Case Report.
Indian dermatology online journalA Case of Multiple Myeloma-Associated Systemic Amyloidosis with Multiple Skin Manifestations as the First Symptom.
Clinical, cosmetic and investigational dermatologyCutis Verticis Gyrata Heralding a Diagnosis of Primary Systemic Amyloidosis in a Patient with Cardioembolic Stroke.
Annals of Indian Academy of NeurologyImpact of second primary malignancy post-autologous transplantation on outcomes of multiple myeloma: a CIBMTR analysis.
Blood advancesPlasma cell neoplasms and related entities-evolution in diagnosis and classification.
Virchows Archiv : an international journal of pathologyMyocardial Uptake of 68Ga-Pentixafor in a Patient With Systemic Amyloidosis.
Clinical nuclear medicinePersistent diarrhea with petechial rash - unusual pattern of light chain amyloidosis deposition on skin and gastrointestinal biopsies: A case report.
World journal of clinical casesPrimary Systemic Amyloidosis With Cardiac and Renal Involvement.
CureusMacroglossia Associated With Primary Systemic Amyloidosis - Case Report With Unusual Clinical Presentation.
Journal of Ayub Medical College, Abbottabad : JAMCPrimary Systemic Amyloidosis.
Journal of cutaneous medicine and surgery[Dermatological manifestations of monoclonal gammopathies].
Revista medica de Chile[Daratumumab for the treatment of primary systemic amyloidosis: a multicenter retrospective analysis].
Zhonghua nei ke za zhiEarly Dermoscopic Signs Leading to Primary Systemic Amyloidosis' Diagnosis: A Case Report.
Dermatology practical & conceptualAutopsy findings in a patient with primary systemic AL (kappa light chain) amyloidosis.
Autopsy & case reportsNon-variceal upper gastrointestinal bleed as first presentation of primary systemic amyloidosis - A case report.
International journal of health sciencesDrooping shoulders: A rare manifestation of an uncommon disease.
The National medical journal of IndiaLocalized Immunoglobulin Light-Chain Amyloidosis of the Ulnar Nerve.
Case reports in neurologyHepatocyte Growth Factor and Primary Systemic Amyloidosis.
Journal of UOEHUsefulness of dermoscopy in identifying amyloid purpura.
The Journal of dermatologySpontaneous bilateral peri-orbital purpura: an important clinical sign of primary systemic amyloidosis.
BMJ case reportsPeripheral Nervous System Involvement.
Hematology/oncology clinics of North AmericaTraumatic Avulsion of Upper Eyelid Skin Following Surgery in a Patient With Multiple Myeloma and Amyloid Light-chain Amyloidosis.
Wound management & preventionCutaneous amyloidosis as the first presentation of Waldenstrom macroglobulinemia.
Caspian journal of internal medicineA Case of Primary Systemic Amyloidosis Involving the Sinonasal Tract.
Ear, nose, & throat journalPrimary Localized Conjunctival Amyloidosis Presenting Corneal Whorl-like Opacity Patterns.
CorneaMultiple myeloma with primary amyloidosis presenting with digestive symptoms: A case report and literature review.
Arab journal of gastroenterology : the official publication of the Pan-Arab Association of GastroenterologyClassic features of primary systemic amyloidosis (AL amyloidosis) leading to diagnosis of plasma cell myeloma.
Dermatology online journalScientific Advances in and Clinical Approaches to Small-Fiber Polyneuropathy: A Review.
JAMA neurologyOccult cardiac amyloidosis: the last chapter of a 2-year long story.
Forensic science, medicine, and pathologyPrimary Systemic Amyloidosis Mimicking Rhinophyma.
Indian dermatology online journalAmyloid-Associated Alopecia: A Reappraisal Including Its Pathophysiology.
The American Journal of dermatopathologyLight chain cardiac amyloidosis - a rare cause of heart failure in a young adult.
Revista da Associacao Medica Brasileira (1992)Improved Treatment Related Mortality in Patients with Primary Systemic Amyloidosis (AL Amyloidosis) undergoing Autologous Hematopoietic Stem Cell Transplant (aHSCT).
Archives of hematology and blood diseasesThermoregulation in neuropathies.
Handbook of clinical neurologySuspected Pericardial Tuberculosis Revealed as an Amyloid Pericardial Mass.
Case reports in hematologyPrimary systemic amyloidosis in patients with Waldenström macroglobulinemia.
LeukemiaPlasma ropivacaine concentration after TAP block in a patient with cardiac and renal failure.
Local and regional anesthesiaExceptional mucocutaneous manifestations with amyloid nephropathy: a case report.
Journal of medical case reportsCutis verticis gyrata - A rare presentation of Primary systemic Amyloidosis.
International journal of trichologyPrimary systemic amyloidosis with skin and cardiac involvement: a case report.
Acta dermatovenerologica Alpina, Pannonica, et AdriaticaMultiple myeloma presenting with acquired cutis laxa and primary systemic amyloidosis.
European journal of dermatology : EJDRelapsing bullous amyloidosis of the oral mucosa and acquired cutis laxa in a patient with multiple myeloma: a rare triple association.
Clinical and experimental dermatologyPrimary systemic amyloidosis: imaging interpretation of this complex multisystemic disease.
BJR case reports[Hepatic amyloidosis as a rare differential diagnosis of progressive liver failure].
Deutsche medizinische Wochenschrift (1946)Primary Systemic Amyloidosis Involving the Lacrimal Sac.
Korean journal of ophthalmology : KJOPrimary Systemic Amyloidosis with Unusual Dermatological Manifestations: A Rare Case Report.
Indian journal of dermatologyMyeloma Associated Primary Systemic Amyloidosis.
Indian journal of dermatology[Primary localized cutaneous nodular amyloidosis: A diagnostic and therapeutic challenge].
Annales de dermatologie et de venereologieOral purpura as the first manifestation of primary systemic amyloidosis.
The British journal of oral & maxillofacial surgeryAutologous Stem Cell Transplantation in Patients With Primary Systemic Amyloidosis: Experience of a Tertiary Hospital.
Transplantation proceedingsPrimary systemic amyloidosis initially presenting with digestive symptoms: a case report and review of the literature.
Diagnostic pathologyUrinary retinol binding protein is a potential biomarker for renal function in primary systemic amyloidosis: A retrospective study.
Leukemia & lymphomaOsteoprotegerin is a significant prognostic factor for overall survival in patients with primary systemic amyloidosis independent of the Mayo staging.
Blood cancer journalBladder perforation secondary to primary systemic amyloidosis.
Case reports in urologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Cutaneous Amyloidosis: An Updated Approach Focusing on Macular Amyloidosis.
- Heavy Chains, Heavy Consequences: A Case of Concomitant Heavy Chain Amyloidosis and Heavy Chain Deposition Disease.
- Amyloid associated alopecia: A case report and review of the literature.
- Primary Systemic Amyloidosis Characterized by Multiple Keratinous Cysts: A Case Report.
- Primary systemic amyloidosis: A brief overview.
- Pinch Purpura: A Clinical Clue to Primary Systemic Amyloidosis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:314701(Orphanet)
- MONDO:0017816(MONDO)
- GARD:17431(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q7243179(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
