Amiloidose hereditária é um grupo de doenças genéticas (passadas de pais para filhos) que fazem parte dos diferentes tipos de amiloidose. Ela é caracterizada pelo acúmulo de uma proteína anormal chamada amiloide em vários órgãos do corpo, em lugares onde não deveria estar. Esse acúmulo atrapalha a estrutura e o funcionamento normal desses órgãos. Na amiloidose hereditária, os depósitos de amiloide atingem principalmente os tecidos do coração, dos rins e do sistema nervoso. Embora os sintomas da amiloidose hereditária possam surgir na infância, a maioria das pessoas só apresenta sintomas na vida adulta. Existem vários tipos de amiloidose hereditária, ligados a diferentes alterações genéticas (mutações) e proteínas anormais. O tipo mais comum de amiloidose hereditária é a amiloidose por transtirretina (ATTR), uma condição em que os depósitos de amiloide são formados, na maioria das vezes, pela proteína transtirretina, que é produzida no fígado. Outros exemplos de amiloidose hereditária incluem, entre outros: amiloidose por apolipoproteína AI (A ApoAI), amiloidose por gelsolina (A Gel), amiloidose por lisozima (A Lys), amiloidose por cistatina C (A Cys), amiloidose por cadeia alfa de fibrinogênio (A Fib) e amiloidose por apolipoproteína AII (A ApoAII). A maioria dos tipos de amiloidose hereditária é transmitida de forma autossômica dominante, o que significa que basta herdar uma cópia do gene alterado de um dos pais para desenvolver a doença. O tratamento busca lidar com os sintomas causados pelos danos aos órgãos e, quando possível, reduzir a produção de amiloide por meio de métodos como transplantes de fígado.
Introdução
O que você precisa saber de cara
Amiloidose hereditária é um grupo de doenças genéticas (passadas de pais para filhos) que fazem parte dos diferentes tipos de amiloidose. Ela é caracterizada pelo acúmulo de uma proteína anormal chamada amiloide em vários órgãos do corpo, em lugares onde não deveria estar. Esse acúmulo atrapalha a estrutura e o funcionamento normal desses órgãos. Na amiloidose hereditária, os depósitos de amiloide atingem principalmente os tecidos do coração, dos rins e do sistema nervoso. Embora os sintomas da amiloidose hereditária possam surgir na infância, a maioria das pessoas só apresenta sintomas na vida adulta. Existem vários tipos de amiloidose hereditária, ligados a diferentes alterações genéticas (mutações) e proteínas anormais. O tipo mais comum de amiloidose hereditária é a amiloidose por transtirretina (ATTR), uma condição em que os depósitos de amiloide são formados, na maioria das vezes, pela proteína transtirretina, que é produzida no fígado. Outros exemplos de amiloidose hereditária incluem, entre outros: amiloidose por apolipoproteína AI (A ApoAI), amiloidose por gelsolina (A Gel), amiloidose por lisozima (A Lys), amiloidose por cistatina C (A Cys), amiloidose por cadeia alfa de fibrinogênio (A Fib) e amiloidose por apolipoproteína AII (A ApoAII). A maioria dos tipos de amiloidose hereditária é transmitida de forma autossômica dominante, o que significa que basta herdar uma cópia do gene alterado de um dos pais para desenvolver a doença. O tratamento busca lidar com os sintomas causados pelos danos aos órgãos e, quando possível, reduzir a produção de amiloide por meio de métodos como transplantes de fígado.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 78 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 247 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
13 genes identificados com associação a esta condição.
Could be a melanogenic enzyme
Cell membraneMelanosome membraneEarly endosome membrane
Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain
SecretedCytoplasm
Amyloidosis, hereditary systemic 1
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD1 is an autosomal dominant form due to transthyretin amyloid deposition. Protein fibrils can form in different tissues leading to amyloid polyneuropathies, amyloidotic cardiomyopathy, carpal tunnel syndrome, systemic senile amyloidosis. The disease includes leptomeningeal amyloidosis that is characterized by primary involvement of the central nervous system. Neuropathologic examination shows amyloid in the walls of leptomeningeal vessels, in pia arachnoid, and subpial deposits. Some patients also develop vitreous amyloid deposition that leads to visual impairment (oculoleptomeningeal amyloidosis). Clinical features include seizures, stroke-like episodes, dementia, psychomotor deterioration, variable amyloid deposition in the vitreous humor.
Lysozymes have primarily a bacteriolytic function; those in tissues and body fluids are associated with the monocyte-macrophage system and enhance the activity of immunoagents
Secreted
Amyloidosis, hereditary systemic 5
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD5 primarily affects the viscera, and the predominant clinical features are renal dysfunction of varying severity, and intra-abdominal bleeding. Inheritance is autosomal dominant.
May stabilize HDL (high density lipoprotein) structure by its association with lipids, and affect the HDL metabolism
Secreted
Plays a regulatory role in the processing of the amyloid-beta A4 precursor protein (APP) and acts as an inhibitor of the amyloid-beta peptide aggregation and fibrils deposition. Plays a role in the induction of neurite outgrowth. Functions as a protease inhibitor by blocking access of secretases to APP cleavage sites Mature BRI2 (mBRI2) functions as a modulator of the amyloid-beta A4 precursor protein (APP) processing leading to a strong reduction in the secretion of secretase-processed amyloid-
Golgi apparatus membraneCell membraneEndosome membraneSecreted
Cerebral amyloid angiopathy, ITM2B-related 1
A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity.
Associates with IL31RA to form the IL31 receptor. Binds IL31 to activate STAT3 and possibly STAT1 and STAT5. Capable of transducing OSM-specific signaling events
Membrane
Amyloidosis, primary localized cutaneous, 1
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility
Secreted
Hypoalphalipoproteinemia, primary, 2
An autosomal recessive disorder of lipoprotein metabolism, biochemically characterized by severe apoA-I deficiency and severely reduced serum high-density lipoprotein cholesterol (HDL-C). Affected individuals have undetectable serum levels of apoA-I, and develop xanthomas and corneal opacities. The disease is generally associated with atherosclerosis and markedly increased cardiovascular risk.
Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using an
Secreted
Congenital afibrinogenemia
Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen.
Functions as a cell surface receptor and performs physiological functions on the surface of neurons relevant to neurite growth, neuronal adhesion and axonogenesis. Interaction between APP molecules on neighboring cells promotes synaptogenesis (PubMed:25122912). Involved in cell mobility and transcription regulation through protein-protein interactions. Can promote transcription activation through binding to APBB1-KAT5 and inhibits Notch signaling through interaction with Numb. Couples to apoptos
Cell membraneMembranePerikaryonCell projection, growth coneMembrane, clathrin-coated pitEarly endosomeCytoplasmic vesicleEndoplasmic reticulumGolgi apparatusSecretedCell surfaceNucleusCytoplasm
Alzheimer disease 1
A form of Alzheimer disease, a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. It can be associated with cerebral amyloid angiopathy. Alzheimer disease can be associated with cerebral amyloid angiopathy.
Associates with OSMR to form the interleukin-31 receptor which activates STAT3 and to a lower extent STAT1 and STAT5 (PubMed:11877449, PubMed:14504285, PubMed:15194700, PubMed:15627637). May function in skin immunity (PubMed:15184896). Mediates IL31-induced itch, probably in a manner dependent on cation channels TRPA1 and TRPV1 (By similarity). Positively regulates numbers and cycling status of immature subsets of myeloid progenitor cells in bone marrow in vivo and enhances myeloid progenitor ce
Cell membranePresynaptic cell membraneCell projection, axon
Amyloidosis, primary localized cutaneous, 2
A primary amyloidosis characterized by localized cutaneous amyloid deposition. This condition usually presents with itching (especially on the lower legs) and visible changes of skin hyperpigmentation and thickening that may be exacerbated by chronic scratching and rubbing. Primary localized cutaneous amyloidosis is often divided into macular and lichen subtypes although many affected individuals often show both variants coexisting. Lichen amyloidosis characteristically presents as a pruritic eruption of grouped hyperkeratotic papules with a predilection for the shins, calves, ankles and dorsa of feet and thighs. Papules may coalesce to form hyperkeratotic plaques that can resemble lichen planus, lichen simplex or nodular prurigo. Macular amyloidosis is characterized by small pigmented macules that may merge to produce macular hyperpigmentation, sometimes with a reticulate or rippled pattern. In macular and lichen amyloidosis, amyloid is deposited in the papillary dermis in association with grouped colloid bodies, thought to represent degenerate basal keratinocytes. The amyloid deposits probably reflect a combination of degenerate keratin filaments, serum amyloid P component, and deposition of immunoglobulins.
Component of the class I major histocompatibility complex (MHC). Involved in the presentation of peptide antigens to the immune system. Exogenously applied M.tuberculosis EsxA or EsxA-EsxB (or EsxA expressed in host) binds B2M and decreases its export to the cell surface (total protein levels do not change), probably leading to defects in class I antigen presentation (PubMed:25356553)
SecretedCell surface
Immunodeficiency 43
A disorder characterized by marked reduction in serum concentrations of immunoglobulins and albumin, and hypoproteinemia due to hypercatabolism. Patients may suffer from recurrent respiratory tract infections and severe skin disease.
Calcium-regulated, actin-modulating protein that binds to the plus (or barbed) ends of actin monomers or filaments, preventing monomer exchange (end-blocking or capping). It can promote the assembly of monomers into filaments (nucleation) as well as sever filaments already formed (PubMed:19666512). Plays a role in ciliogenesis (PubMed:20393563)
Cytoplasm, cytoskeletonSecreted
Amyloidosis, hereditary systemic 4, Finnish type
A form of hereditary systemic amyloidosis, a disorder characterized by amyloid deposition in multiple tissues resulting in a wide clinical spectrum. AMYLD4 is due to gelsolin amyloid deposition and is typically characterized by cranial neuropathy and lattice corneal dystrophy. Most patients have modest involvement of internal organs, but severe systemic disease can develop in some individuals causing peripheral polyneuropathy, amyloid cardiomyopathy, and nephrotic syndrome leading to renal failure. AMYLD4 is usually inherited in an autosomal dominant pattern. However, homozygotes with a more severe phenotype have also been reported.
As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity
Secreted
Cerebral amyloid angiopathy, CST3-related
An autosomal dominant disorder characterized by cystatin C amyloid accumulation in the walls of arteries, arterioles, and sometimes capillaries and veins of the brain, and in various organs including lymphoid tissue, spleen, salivary glands, and seminal vesicles. Amyloid deposition in the cerebral vessels results in intracranial hemorrhage and premature stroke. Cystatin C levels in the cerebrospinal fluid are abnormally low.
Medicamentos e terapias
Mecanismo: Transthyretin mRNA RNAi inhibitor
Mecanismo: Transthyretin mRNA rnai inhibitor
Mecanismo: Transthyretin mRNA antisense inhibitor
Mecanismo: Transthyretin mRNA rnai inhibitor
Mecanismo: Transthyretin mRNA RNAi inhibitor
Mecanismo: Transthyretin mRNA antisense inhibitor
Mecanismo: Transthyretin mRNA antisense inhibitor
Mecanismo: Transthyretin stabiliser
Mecanismo: Transthyretin stabiliser
Mecanismo: Transthyretin mRNA RNAi inhibitor
Variantes genéticas (ClinVar)
292 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
68 vias biológicas associadas aos genes desta condição.
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 hereditária
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
9 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
229 ensaios clínicos encontrados, 12 ativos.
Publicações mais relevantes
Therapeutic Efficacy and Safety Profile of Eplontersen in Hereditary Transthyretin-Mediated Amyloidosis: A Systematic Review.
Hereditary transthyretin-mediated amyloidosis (hATTR) is a disorder that affects several body systems and can result in life-threatening conditions like cardiomyopathy and polyneuropathy. For treatment of hATTR in the new medical realm, there is a breakthrough discovery of a medicine called Eplontersen, which targets the underlying genetic mutation causing the condition. This review aims to summarize Eplontersen's mechanism of action, efficacy, safety profile, and ongoing clinical trials. A systematic review of the literature was conducted following PRISMA guidelines. Databases searched included PubMed, Cochrane, and Science Direct using terms related to Eplontersen and hereditary amyloidosis. Studies were selected based on defined inclusion and exclusion criteria. Eplontersen was approved by the FDA after the NEURO-TTRansform phase 3 trial showed substantial safety and efficacy. The drug demonstrated a significant reduction in serum TTR levels and improvements in neurological function and quality of life in patients with hATTR. The review also explored contraindications, dosing, safety monitoring, and patient support programs. Although data gaps remain, Eplontersen represents a promising advancement in the treatment of hATTR-induced polyneuropathy. Future research is needed on long-term safety, early diagnosis, personalized treatments, and combination therapies. This drug emphasizes the importance of continued research for optimal patient care and outcomes.
Central Nervous System Manifestations Associated with Hereditary Transthyretin Amyloidosis: a Narrative Review.
Hereditary transthyretin amyloidosis (ATTRv) is a rare, autosomal dominant, inherited disease caused by variants in the gene encoding the transthyretin (TTR) protein. These variants lead to TTR tetramer destabilization, resulting in the formation and progressive deposition of insoluble amyloid fibrils in various tissues, including those of the central nervous system (CNS). Although previously neglected, the recognition of CNS involvement in ATTRv has become progressively relevant due to prolonged patient survival and the ineffectiveness of the current therapies in addressing CNS synthesis of TTR. The first descriptions of the pathological involvement of the CNS in ATTRv date from the 1960s; however, this topic has not been fully explored. In the present article, the main CNS clinical manifestations of ATTRv, such as transient focal neurological episodes, bleeding complications, leptomeningeal amyloidosis, and cognitive impairment, are reviewed, and the phenotypic variability of this condition is highlighted. A literature review of the PubMed/Medline database was conducted using the following keywords: hereditary amyloidosis, transthyretin amyloidosis, familial amyloidosis, central nervous system, neurological manifestations, leptomeningeal amyloidosis, cognition, and cognitive impairment. Studies published in the last 15 years, including review articles, prospective observational studies, experimental studies and clinical trials, were evaluated. Improving our understanding of CNS involvement in ATTRv will enable the early identification of neurological symptoms in this condition, which will enhance the understanding of the pathophysiological mechanisms and boost the advancement of research, expanding potential treatments and improving the quality of life of these individuals.
Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.
Background/Objectives: Hereditary transthyretin amyloidosis (ATTRv) is a heterogeneous multisystem disease caused by pathogenic transthyretin gene (TTR) variants. Increased awareness and availability of disease-modifying therapies have resulted in increased diagnoses, even in previously nonendemic regions. The aim of this study was to update the nationwide Austrian ATTRv registry by characterizing the clinical, genetic, and regional distribution of TTR variants. Methods: This multicenter, observational analysis examined ATTRv cases diagnosed in Austria between 2014 and 2025. Individuals were included according to the presence of pathogenic or likely pathogenic variants or variants of uncertain significance (VUSs) in TTR. Results: In total, 100 individuals were identified, including symptomatic and asymptomatic carriers. Compared with our previously presented data, the number of genetically confirmed ATTRv cases has more than doubled. Twenty-three TTR variants were identified. The most frequent pathologic variants were p.His108Arg (26%), p.Ile127Phe (11%), and p.Thr69Ile (9%), while p.Val113Leu (9%) represented the most frequent VUS. Significant regional clustering of p.His108Arg was documented in Vienna and Lower Austria. Other findings included a rising number of p.Val142Ile carriers and phenotypically relevant VUSs in 20 patients. Conclusions: Our findings revealed an increasing detection rate of ATTRv in a nonendemic European region. These data underscore the importance of multidisciplinary evaluation, cascade testing, and long-term monitoring to improve early diagnosis and timely management in hereditary amyloidosis.
A Cautionary Tale: An Instructive Case of Recognising Non-Amyloid Light Chain Renal Amyloidosis.
Amyloidosis is a group of diseases characterised by tissue deposition of misfolded proteins, leading to organ dysfunction without appropriate therapy. Fibrinogen A α-chain amyloidosis is a rare hereditary amyloidosis that can be difficult to distinguish from other causes of renal amyloidosis. We report on a 66-year-old female who presented with deteriorating kidney function. Serum kappa/lambda free light chain ratio was normal with no detectable paraprotein. Kidney biopsy showed marked glomerular expansion and architectural destruction due to amyloid deposition with no vascular amyloid deposits and moderate kappa staining on immunohistochemistry. Despite bone marrow aspirate and trephine showing no evidence of plasma cell dyscrasia, light chain amyloidosis was diagnosed, and she was treated with chemotherapy, eventually progressing to kidney failure. Subsequent genetic testing revealed the amyloidogenic variant of fibrinogen A α due to mutation Glu526Val, confirming a diagnosis of fibrinogen A α-chain amyloidosis and not light chain amyloidosis. She received a deceased donor kidney transplant and was treated with doxycycline for its anti-fibrillogenesis effect with no amyloid recurrence on post-transplant surveillance biopsies, satisfactory kidney function and no proteinuria 6 years post-transplant. Renal amyloidosis cannot be attributed to the light chain subtype without evidence of plasma cell dyscrasia. Understanding of patterns of amyloid deposition in all renal amyloidosis subtypes is necessary, and genetic testing and mass spectrometry should be considered when immunohistochemistry is inconclusive. Correct subtyping of renal amyloidosis is crucial to avoid unnecessary toxicity from chemotherapy and determine the risk of recurrence for kidney transplantation. A multidisciplinary team approach with amyloidosis expertise is recommended.
Natural variants of apolipoprotein A1 L99P and R173P exhibited a high degree of amyloid fibril formation: Implications for high-density lipoprotein functions and disease pathogenesis.
Apolipoprotein A1 (ApoA1), the primary protein component of high-density lipoprotein (HDL), plays a crucial role in cholesterol transport and cardiovascular protection. However, specific mutations in ApoA1 are associated with hereditary amyloidosis, a condition marked by protein misfolding and deposition of amyloid fibrils in various tissues. This study aimed to experimentally characterize the structural and functional consequences of four disease-associated ApoA1 mutations (G26R, L84P, L99P, and R173P), previously predicted to be amyloidogenic via computational analysis. Recombinant ApoA1 variants were expressed in Bacillus subtilis, purified, and characterized using a combination of biophysical, structural, and cellular assays. The L99P and R173P mutants exhibited significant structural destabilization, increased exposure of hydrophobic surfaces, enhanced β-sheet formation, and a strong tendency to aggregate. These properties were associated with the formation of elongated fibrils and a marked increase in cytotoxicity in HEK293 cells. In contrast, the L84P variant formed spherical aggregates with relatively preserved secondary structure and showed minimal cytotoxic effects, suggesting a distinct, possibly less pathogenic aggregation pathway. G26R displayed intermediate behavior, with notable amyloidogenic potential and cellular toxicity. This study provides experimental validation for the amyloidogenic nature of select ApoA1 mutations and highlights the structural heterogeneity underlying their aggregation behavior.
Publicações recentes
Central Nervous System Manifestations Associated with Hereditary Transthyretin Amyloidosis: a Narrative Review.
Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.
Therapeutic Efficacy and Safety Profile of Eplontersen in Hereditary Transthyretin-Mediated Amyloidosis: A Systematic Review.
A Cautionary Tale: An Instructive Case of Recognising Non-Amyloid Light Chain Renal Amyloidosis.
Natural variants of apolipoprotein A1 L99P and R173P exhibited a high degree of amyloid fibril formation: Implications for high-density lipoprotein functions and disease pathogenesis.
📚 EuropePMC123 artigos no totalmostrando 170
Central Nervous System Manifestations Associated with Hereditary Transthyretin Amyloidosis: a Narrative Review.
Arquivos de neuro-psiquiatriaHereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.
Journal of clinical medicineTherapeutic Efficacy and Safety Profile of Eplontersen in Hereditary Transthyretin-Mediated Amyloidosis: A Systematic Review.
Health science reportsA Cautionary Tale: An Instructive Case of Recognising Non-Amyloid Light Chain Renal Amyloidosis.
Nephrology (Carlton, Vic.)Natural variants of apolipoprotein A1 L99P and R173P exhibited a high degree of amyloid fibril formation: Implications for high-density lipoprotein functions and disease pathogenesis.
International journal of biological macromoleculesGenetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.
Journal of the peripheral nervous system : JPNSPredictors of poor prognosis in a large cohort of patients with hereditary cardiac transthyretin amyloidosis.
Revista espanola de cardiologia (English ed.)Efficacy and safety of patisiran for the treatment of acquired amyloid polyneuropathy in domino liver transplant recipients.
Therapeutic advances in neurological disordersRevolutionizing pediatric gene and cell therapy: The hope for lipid-based nanoparticles in blood disorders.
Current research in translational medicineSixty years of experience with hereditary transthyretin amyloidosis: Insights from the Swedish transthyretin amyloidosis registry.
Journal of internal medicineTransthyretin variant cerebral amyloid angiopathy fulfilling the modified Boston criteria: Retrospective data from the Bicêtre hospital cohort.
Revue neurologiqueThe Structure of the Apolipoprotein A-I Monomer Provides Insights Into Its Oligomerisation and Lipid-binding Mechanisms.
Journal of molecular biologyA mutation in transthyretin gene in a Mexican patient leading to hereditary amyloidosis: a case report.
Journal of medical case reportsIntroducing a revised version of the Kumamoto scale as an easy-to-use clinical tool for monitoring multisystemic changes in hereditary transthyretin amyloidosis.
Orphanet journal of rare diseasesRealizing the therapeutic potential of rapid knockdown of transthyretin via RNA interference in transthyretin amyloidosis.
Molecular therapy. Nucleic acidsScalloped pupil in a patient with hereditary amyloidosis transthyretin.
Medicina clinicaProgress and Criteria in Public Health Applications of Gene Therapy and Gene Editing: Beyond the White Paper.
Public health genomicsATTRV30M amyloidosis post-liver transplant: cognition and long-term survival.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisMultigene panel analysis has limited additional value compared to transthyretin gene analysis in Dutch patients with suspected cardiac amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisExploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights from 123I-mIBG Scintigraphy.
Diagnostics (Basel, Switzerland)Cardiac amyloidosis: A diagnosis made from an ophthalmological finding and suspicion.
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaInsights into the structural and biophysical mechanisms of benzamidine-driven inhibition of human lysozyme aggregation.
International journal of biological macromoleculesHereditary transthyretin amyloidosis (ATTRv).
Current problems in cardiologyHereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.
European journal of neurologyAmyloidosis and Heart Transplantation in a New Era.
Clinical transplantationPrevalence of Pathogenic Transthyretin Gene Variants in the Rocky Mountain Region.
Muscle & nerveClinicopathologic, Proteomic and Outcome Characteristics of Renal Apolipoprotein C-II Amyloidosis: A Case Series.
American journal of kidney diseases : the official journal of the National Kidney FoundationCryo-EM structure of a lysozyme-derived amyloid fibril from hereditary amyloidosis.
Nature communicationsExperience of Hereditary Amyloidosis with Rare Variant in Ecuador: Case Reports.
Medical sciences (Basel, Switzerland)The Role of Neuromuscular Ultrasound in the Diagnosis of Peripheral Neuropathy.
Seminars in neurologyAssessing the effectiveness and safety of Patisiran and Vutrisiran in ATTRv amyloidosis with polyneuropathy: a systematic review.
Frontiers in neurologyHereditary transthyretin amyloidosis with hydrocephalus at 27 years old: A case report.
Journal of cardiology casesRNA Interference Therapeutics for Hereditary Amyloidosis: A Narrative Review of Clinical Trial Outcomes and Future Directions.
CureusHereditary Amyloidosis: Insights Into a Fibrinogen A Variant Protein.
ProteinsNeurofilament light chain as a biomarker for acute hepatic porphyrias.
Frontiers in neurologyUnravelling complexity: A case of progressive cardiac involvement in hereditary amyloidosis after liver transplant.
Kardiologia polskaLate-onset familial amyloidosis polyneuropathy associated with c.186G>C in transthyretin.
Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina)Circulating transthyretin and retinol binding protein 4 levels among middle-age V122I TTR carriers in the general population.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisApolipoprotein C-III amyloidosis in white lions (Panthera leo).
Veterinary pathologyTrypsin-induced aggregation of transthyretin Valine 30 variants associated with hereditary amyloidosis.
The FEBS journalAn ultra performance liquid chromatography method for transthyretin variants screening and heart failure assisting diagnosis.
Clinica chimica acta; international journal of clinical chemistryGeneration of two induced pluripotent stem cell lines from hereditary amyloidosis patients with polyneuropathy carrying heterozygous transthyretin (TTR) mutation.
Stem cell researchReal-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases.
Frontiers in cardiovascular medicineRNA Interference and Neuromuscular Diseases: A Focus on Hereditary Transthyretin Amyloidosis.
Current gene therapyCardiac Amyloid Quantification Using 124I-Evuzamitide (124I-P5+14) Versus 18F-Florbetapir: A Pilot PET/CT Study.
JACC. Cardiovascular imagingComparison of cardiac involvement, extracardiac manifestations and outcomes between homozygote and heterozygote transthyretin p.Val142Ile (V122I) variant in patients with hereditary transthyretin amyloidosis: a cohort study.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisIndirect treatment comparison (ITC) of the efficacy of vutrisiran and tafamidis for hereditary transthyretin-mediated amyloidosis with polyneuropathy.
Expert opinion on pharmacotherapy[Therapeutic Strategies for Hereditary Transthyretin Amyloidosis].
Brain and nerve = Shinkei kenkyu no shinpoHereditary gelsolin amyloidosis: a rare cause of cranial, peripheral and autonomic neuropathies linked to D187N and Y447H substitutions.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisRenal Amyloidosis (AL Kappa Type) With an Uncommon Presentation: A Case Report.
CureusSmall interfering RNA (siRNA)-based therapeutics.
Drug and therapeutics bulletinCorneal confocal microscopy identifies corneal nerve loss and increased Langerhans cells in presymptomatic carriers and patients with hereditary transthyretin amyloidosis.
Journal of neurologyAmyloidosis of the Heart: A Comprehensive Review.
CureusThe value of electrochemical skin conductance measurement by Sudoscan® for assessing autonomic dysfunction in peripheral neuropathies beyond diabetes.
Neurophysiologie clinique = Clinical neurophysiologyNeuropathic pain experience in symptomatic and presymptomatic subjects carrying a transthyretin gene mutation.
Frontiers in neurologyA Comprehensive Multidisciplinary Diagnostic Algorithm for the Early and Efficient Detection of Amyloidosis.
Clinical lymphoma, myeloma & leukemiaSevere Polyneuropathy in Hereditary Transthyretin Amyloidosis Caused by H90D Variant.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesA Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot Study.
International journal of molecular sciencesTrajectories of Kidney Function in Patients with ATTRv Treated with Gene Silencers.
GenesNoncardiac Manifestations of Hereditary Amyloidosis.
The American journal of cardiologyHereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.
BiomedicinesRegression of left ventricular hypertrophy after tafamidis therapy in a patient with transthyretin amyloidosis variant.
The journal of medical investigation : JMIRenal amyloidosis: a new time for a complete diagnosis.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicasGait Characterization and Analysis of Hereditary Amyloidosis Associated with Transthyretin Patients: A Case Series.
Journal of clinical medicineA patient with hereditary transthyretin amyloidosis involving multiple cranial nerves due to a rare p.(Phe84Ser) variant.
Translational neuroscienceThe effect of mutation on an aggregation-prone protein: An in vivo, in vitro, and in silico analysis.
Proceedings of the National Academy of Sciences of the United States of AmericaLysozyme amyloidosis-a report on a large German cohort and the characterisation of a novel amyloidogenic lysozyme gene variant.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisAntisense therapies in neurological diseases.
Brain : a journal of neurologyPatisiran treatment in patients with hereditary transthyretin-mediated amyloidosis with polyneuropathy after liver transplantation.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant SurgeonsAngiographic dark choroid in systemic non-hereditary amyloidosis.
American journal of ophthalmology case reportsThree patients of transthyretin amyloidosis in a Japanese family with amyloidogenic transthyretin Thr49Ser (p.Thr69Ser) variant.
European journal of medical geneticsVitreous involvement as initial presentation of hereditary transthyretin amyloidosis related to the rare TTR Ile107Met (p.Ile127Met) pathogenic variant.
Ophthalmic geneticsA Pilot Study of Rare Renal Amyloidosis Based on FFPE Proteomics.
Molecules (Basel, Switzerland)A Brief Journey through Protein Misfolding in Transthyretin Amyloidosis (ATTR Amyloidosis).
International journal of molecular sciencesChanges in nerve conduction studies predate clinical symptoms onset in early onset Val30Met hereditary ATTR amyloidosis.
European journal of neurologyToward Population-Based Genetic Screening for Hereditary Amyloidosis.
JACC. CardioOncologyTRANSTHYRETIN AMYLOIDOSIS THERAPIES: GUIDING THE FUTURE.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionCardiomyopathy and Refractory Tachycardia in a Patient With Hereditary Amyloidosis.
Circulation. Heart failureOcular Involvement in Hereditary Amyloidosis.
GenesA Case of Hearing Impairment with Renal Dysfunction.
Indian journal of nephrologyPatisiran in hATTR Amyloidosis: Six-Month Latency Period before Efficacy.
Brain sciencesClinical comparison of V122I genotypic variant of transthyretin amyloid cardiomyopathy with wild-type and other hereditary variants: a systematic review.
Heart failure reviewsEstimating the annual economic burden for the management of patients with transthyretin amyloid polyneuropathy in Spain.
Expert review of pharmacoeconomics & outcomes researchDeposits on Retinal Surface Seen on OCT in Ocular Amyloidosis.
Ophthalmology. RetinaApolipoprotein genetic variants and hereditary amyloidosis.
Current opinion in lipidologyClinical 3-D Gait Assessment of Patients With Polyneuropathy Associated With Hereditary Transthyretin Amyloidosis.
Frontiers in neurologyAnalyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer's Disease.
Frontiers in aging neuroscienceTargeting transthyretin - Mechanism-based treatment approaches and future perspectives in hereditary amyloidosis.
Journal of neurochemistryA case of cardiac amyloidosis in an elderly Japanese patient with amyloidogenic transthyretin Val122Ile variant.
Journal of cardiology casesLow Prevalence of Clinically Apparent Cardiac Amyloidosis Among Carriers of Transthyretin V122I Variant in a Large Electronic Medical Record.
The American journal of medicineAmyloid Typing by Mass Spectrometry in Clinical Practice: a Comprehensive Review of 16,175 Samples.
Mayo Clinic proceedingsThe effects of mutation and modification on the structure and stability of human lysozyme: A molecular link between carbamylation and atherosclerosis.
Journal of molecular graphics & modellingA Review of Patisiran (ONPATTRO®) for the Treatment of Polyneuropathy in People with Hereditary Transthyretin Amyloidosis.
Neurology and therapyExpression of Amyloidogenic Transthyretin Drives Hepatic Proteostasis Remodeling in an Induced Pluripotent Stem Cell Model of Systemic Amyloid Disease.
Stem cell reportsOverview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.
European journal of hospital pharmacy : science and practiceThe sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisRenal amyloidosis: an update on diagnosis and pathogenesis.
ProtoplasmaPresence of val30Met and val122ile mutations in a patient with hereditary amyloidosis.
Journal of human geneticsCytodiagnosis and protein typing of amyloid from a vitreous washing: initial diagnostic workup of hereditary amyloidosis.
Journal of the American Society of CytopathologyIn vitro investigation of the effect of mesalazine on amyloid fibril formation of hen egg-white lysozyme and defibrillation lysozyme fibrils.
European journal of pharmacologyRegression of cardiac amyloid load documented by cardiovascular magnetic resonance in a patient with hereditary amyloidosis.
Clinical research in cardiology : official journal of the German Cardiac SocietyClinical characteristics in patients with hereditary amyloidosis with Glu54Gln transthyretin identified in the Romanian population.
Orphanet journal of rare diseasesSkin Biopsy in Evaluation of Autonomic Disorders.
Continuum (Minneapolis, Minn.)Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.
Orphanet journal of rare diseasesClinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin: a comment.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisFibrillar conformation of an apolipoprotein A-I variant involved in amyloidosis and atherosclerosis.
Biochimica et biophysica acta. General subjectsTyping of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition.
BMC nephrologyLEFT ATRIAL FUNCTION AND VOLUME BY MAGNETIC RESONANCE IN PATIENTS WITH HEREDITARY AMYLOIDOSIS.
Revista de investigacion clinica; organo del Hospital de Enfermedades de la NutricionDiagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.
International journal of cardiologyNeuropathy Associated with Systemic Amyloidosis.
Seminars in neurologyAn evaluation of patisiran: a viable treatment option for transthyretin-related hereditary amyloidosis.
Expert opinion on pharmacotherapyTransthyretin Cardiac Amyloidosis and Aortic Stenosis: Connection and Therapeutic Implications.
Current cardiology reviewsImpact of Genetic Testing in Transthyretin (ATTR) Cardiac Amyloidosis.
Current heart failure reportsNovel RNA-targeted therapies for hereditary ATTR amyloidosis and their impact on the autonomic nervous system.
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyHereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review.
BMC nephrologyEarly diagnostic tools in hereditary amyloidosis related to transthyretin (hATTR) V30M autonomic neuropathy.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisClinical manifestations in hereditary amyloidosis with the variant Glu54Gln transthyretin.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisPrimary squamous cell carcinoma of the peristomal skin of gastrostomy in a transplant patient: a first case report.
Journal of gastrointestinal oncologyAmyloid in parenchymal organs in gelsolin (AGel) amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisClinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.
Journal of neuromuscular diseasesElectrochemical skin conductance in hereditary amyloidosis related to transthyretin V30M - a promising tool to assess treatment efficacy?
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisEstimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
European journal of human genetics : EJHGA new genetic variant of hereditary apolipoprotein A-I amyloidosis: a case-report followed by discussion of diagnostic challenges and therapeutic options.
BMC medical genetics[What's new in dermatological treatment?].
Annales de dermatologie et de venereologieCardiomyopathy and autonomic neuropathy in hereditary amyloidosis: Defining the cart and the horse.
Journal of nuclear cardiology : official publication of the American Society of Nuclear CardiologyAtypical presentation of transthyretin amyloidosis in a non-endemic area.
Revista clinica espanolaNon-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis.
PloS oneA Patient With Hereditary ATTR and a Novel AGel p.Ala578Pro Amyloidosis.
Mayo Clinic proceedingsPhenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.
European journal of heart failureEffects of Disease-Causing Mutations on the Conformation of Human Apolipoprotein A-I in Model Lipoproteins.
BiochemistryAmyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases.
Orphanet journal of rare diseasesHereditary amyloidosis related to transthyretin V30M: disease progression in treated and untreated patients.
European journal of neurologyAutonomic involvement in hereditary transthyretin amyloidosis (hATTR amyloidosis).
Clinical autonomic research : official journal of the Clinical Autonomic Research SocietyNewly designed 11-gene panel reveals first case of hereditary amyloidosis captured by massive parallel sequencing.
Journal of clinical pathologyPrimary adrenal insufficiency due to hereditary apolipoprotein AI amyloidosis: endocrine involvement beyond hypogonadism.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisPsychopathological Dimensions in Portuguese Subjects with Transthyretin Familial Amyloid Polyneuropathy.
Biomedicine hubRenal Amyloidosis Associated With 5 Novel Variants in the Fibrinogen A Alpha Chain Protein.
Kidney international reportsClinical outcomes after preimplantation genetic diagnosis of patients with Corino de Andrade disease (familial amyloid polyneuropathy).
Reproductive biomedicine onlineLife paths of patients with transthyretin-related familial amyloid polyneuropathy Val30Met: a descriptive study.
Journal of community geneticsPeptide probes detect misfolded transthyretin oligomers in plasma of hereditary amyloidosis patients.
Science translational medicineStructural determinants in ApoA-I amyloidogenic variants explain improved cholesterol metabolism despite low HDL levels.
Biochimica et biophysica acta. Molecular basis of diseaseTransthyretin Cardiac Amyloidosis.
Current cardiology reports[Transthyretin-related hereditary amyloidosis].
Revue medicale suisseCorino de Andrade disease: mechanisms and impact on reproduction.
JBRA assisted reproductionFamilial progressive bilateral facial paralysis in Finnish type hereditary amyloidosis.
Practical neurologyLong-term effects of liver transplantation on small-fiber dysfunction in Japanese transthyretin (ATTR) V30M hereditary amyloidosis with polyneuropathy (FAP).
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTransthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTransthyretin amyloidosis: a little history of hereditary amyloidosis.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisAmyloid detection in the transverse carpal ligament of patients with hereditary ATTR V30M amyloidosis and carpal tunnel syndrome.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisTransthyretin-related hereditary amyloidosis with recurrent vomiting and renal insufficiency as the initial presentation: A case report.
MedicineAmyloidosis: A cancer-derived paraproteinemia and kidney involvement.
Advances in medical sciencesHereditary Lysozyme Amyloidosis Variant p.Leu102Ser Associates with Unique Phenotype.
Journal of the American Society of Nephrology : JASNExome sequencing establishes a gelsolin mutation as the cause of inherited bulbar-onset neuropathy.
Muscle & nerveHereditary Amyloidosis with Recurrent Lung Infiltrates.
The American journal of case reportsApolipoprotein C-II Deposition Amyloidosis: A Potential Misdiagnosis as Light Chain Amyloidosis.
Case reports in nephrologyHereditary amyloidosis with cardiomyopathy caused by the novel variant transthyretin A36D.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisAmyloidosis of the gastrointestinal tract and the liver: clinical context, diagnosis and management.
European journal of gastroenterology & hepatologyNovel Type of Renal Amyloidosis Derived from Apolipoprotein-CII.
Journal of the American Society of Nephrology : JASN"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.
Journal of the peripheral nervous system : JPNSStructural and Functional Analysis of the ApolipoproteinA-I A164S Variant.
PloS oneProtein conformational perturbations in hereditary amyloidosis: Differential impact of single point mutations in ApoAI amyloidogenic variants.
Biochimica et biophysica acta[Kidney Transplantation and inborn errors of metabolism].
Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologiaPathological, biochemical, and biophysical characteristics of the transthyretin variant Y114H (p.Y134H) explain its very mild clinical phenotype.
Journal of the peripheral nervous system : JPNSHereditary apolipoprotein AI-associated renal amyloidosis: A diagnostic challenge.
Nefrologia : publicacion oficial de la Sociedad Espanola NefrologiaVascular alterations in apolipoprotein A-I amyloidosis (Leu75Pro). A case-control study.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of AmyloidosisThree Turkish families with different transthyretin mutations.
Neuromuscular disorders : NMDEvaluation of operative risk in de novo familial amyloid polyneuropathy retransplantation.
Transplantation proceedingsTransthyretin V122I amyloidosis with clinical and histological evidence of amyloid neuropathy and myopathy.
Neuromuscular disorders : NMDMyeloperoxidase-mediated Methionine Oxidation Promotes an Amyloidogenic Outcome for Apolipoprotein A-I.
The Journal of biological chemistryTransthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments.
Journal of neurology, neurosurgery, and psychiatryAssociações
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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.
- Therapeutic Efficacy and Safety Profile of Eplontersen in Hereditary Transthyretin-Mediated Amyloidosis: A Systematic Review.
- Central Nervous System Manifestations Associated with Hereditary Transthyretin Amyloidosis: a Narrative Review.
- Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.
- A Cautionary Tale: An Instructive Case of Recognising Non-Amyloid Light Chain Renal Amyloidosis.
- Natural variants of apolipoprotein A1 L99P and R173P exhibited a high degree of amyloid fibril formation: Implications for high-density lipoprotein functions and disease pathogenesis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:444116(Orphanet)
- MONDO:0018634(MONDO)
- GARD:6611(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5737919(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
