Approach to the Diagnosis of Amyloidosis

Juneja, Richa; Pati, Hara Prasad

doi:10.1007/s12288-019-01208-4

Cited by 8 publications

(19 citation statements)

References 20 publications

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“…IF is commonly used to document deposition of immunoglobulin proteins in the kidney and is typically performed on frozen sections of kidney biopsies. Fluorochrome-labeled monoclonal antibodies directed against immunoglobulin, complement, and fibrinogen are incubated with tissue-sample slides and viewed under a fluorescence microscope ( 67 ). IHC studies use the same principle.…”

Section: Identifying the Amyloid Precursor Protein And/or The Primary...mentioning

confidence: 99%

“…Use of specific antibodies can aid in typing the amyloid in renal AL and non-AL amyloidosis. The use of other antibodies such as anti-serum amyloid A, anti-transthyretin, or anti-LECT2 are also available by IHC ( Table 3 ) and can be performed to confirm the diagnosis of these different subtypes of amyloid proteins ( 21 , 67 ).…”

Section: Identifying the Amyloid Precursor Protein And/or The Primary...mentioning

confidence: 99%

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Renal amyloidosis: a new time for a complete diagnosis

Feitosa

Neves

Jorge

et al. 2022

Braz J Med Biol Res

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Amyloidoses are a group of disorders in which soluble proteins aggregate and deposit extracellularly in tissues as insoluble fibrils, causing organ dysfunction. Clinical management depends on the subtype of the protein deposited and the affected organs. Systemic amyloidosis may stem from anomalous proteins, such as immunoglobulin light chains or serum amyloid proteins in chronic inflammation or may arise from hereditary disorders. Hereditary amyloidosis consists of a group of rare conditions that do not respond to chemotherapy, hence the identification of the amyloid subtype is essential for diagnosis, prognosis, and treatment. The kidney is the organ most frequently involved in systemic amyloidosis. Renal amyloidosis is characterized by acellular pathologic Congo red-positive deposition of amyloid fibrils in glomeruli, vessels, and/or interstitium. This disease manifests with heavy proteinuria, nephrotic syndrome, and progression to end-stage kidney failure. In some situations, it is not possible to identify the amyloid subtype using immunodetection methods, so the diagnosis remains indeterminate. In cases where hereditary amyloidosis is suspected or cannot be excluded, genetic testing should be considered. Of note, laser microdissection/mass spectrometry is currently the gold standard for accurate diagnosis of amyloidosis, especially in inconclusive cases. This article reviews the clinical manifestations and the current diagnostic landscape of renal amyloidosis.

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Section: Identifying the Amyloid Precursor Protein And/or The Primary...mentioning

confidence: 99%

Section: Identifying the Amyloid Precursor Protein And/or The Primary...mentioning

confidence: 99%

Renal amyloidosis: a new time for a complete diagnosis

Feitosa

Neves

Jorge

et al. 2022

Braz J Med Biol Res

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“…Based on history and clinical examination when suspicion for amyloid is a very high battery of lab tests are advised. Table 2 gives a comprehensive list of lab tests to be ordered in a case of amyloid to establish the diagnosis with amyloid typing [20].…”

Section: Primary Amyloidosis (Al) Is the Most Common Type Of Systemic Amyloidosismentioning

confidence: 99%

Diagnosis of Amyloidosis: From History to Current Tools

Juneja¹,

Dange²,

Arora³

2022

Amyloidosis - History and Perspectives

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The term amyloid encompasses a large variety of misfolded proteins with varying amino acids unified by the antiparallel beta-pleated sheet configuration and characteristic Congo red staining. The etiology of these proteins is equally varied, ranging from neoplastic plasma cell disorder, hereditary causes to inflammatory disorders. The protean clinical manifestation makes a high index of clinical suspicion the first crucial step in the diagnosis. A battery of investigations needs to be carried out for a complete diagnosis of amyloidosis and its underlying etiology. Biopsy with Congo red staining constitutes the most important modality for confirmation of amyloid. For further testing, varying modalities with increasing complexity, such as immunohistochemistry, electron microscopy, and mass spectrometry, need to be employed. We discuss, in the course of the current chapter, this fascinating protein from a clinical diagnosis perspective. The requisite investigations are also discussed in detail.

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“…As a result, patients with amyloidosis often remain misdiagnosed and subjected to prolonged evaluation and unwarranted treatment. The assumption of amyloidosis is based on systemic organ damage, including nephrotic syndrome, unexplained cardiac dysfunction, autonomic or sensory neuropathies, periorbital purpura, weight loss, and other signs unrelated to the specific pathological processes [ 74 ].…”

Section: Tissue- and Cell-based Diagnostics Of Amyloidosismentioning

confidence: 99%

Noninvasive Diagnostics of Renal Amyloidosis: Current State and Perspectives

Fedotov

Khrabrova

Anpilova

et al. 2022

IJMS

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Amyloidoses is a group of diseases characterized by the accumulation of abnormal proteins (called amyloids) in different organs and tissues. For systemic amyloidoses, the disease is related to increased levels and/or abnormal synthesis of certain proteins in the organism due to pathological processes, e.g., monoclonal gammopathy and chronic inflammation in rheumatic arthritis. Treatment of amyloidoses is focused on reducing amyloidogenic protein production and inhibition of its aggregation. Therapeutic approaches critically depend on the type of amyloidosis, which underlines the importance of early differential diagnostics. In fact, the most accurate diagnostics of amyloidosis and its type requires analysis of a biopsy specimen from the disease-affected organ. However, absence of specific symptoms of amyloidosis and the invasive nature of biomaterial sampling causes the late diagnostics of these diseases, which leads to a delayed treatment, and significantly reduces its efficacy and patient survival. The establishment of noninvasive diagnostic methods and discovery of specific amyloidosis markers are essential for disease detection and identification of its type at earlier stages, which enables timely and targeted treatment. This review focuses on current approaches to the diagnostics of amyloidoses, primarily with renal involvement, and research perspectives in order to design new specific tests for early diagnosis.

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Approach to the Diagnosis of Amyloidosis

Cited by 8 publications

References 20 publications

Renal amyloidosis: a new time for a complete diagnosis

Renal amyloidosis: a new time for a complete diagnosis

Diagnosis of Amyloidosis: From History to Current Tools

Noninvasive Diagnostics of Renal Amyloidosis: Current State and Perspectives

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