The M694I/M694I genotype: A genetic risk factor of AA-amyloidosis in a group of Algerian patients with familial Mediterranean fever.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2016.12.003
Abstract: Familial Mediterranean fever (FMF, OMIM 249100) is the most common hereditary fever, resulting from mutations in MEFV. FMF is characterized by episodic febrile attacks and polyserositis. Renal AA-amyloidosis is a major complication, which often leads… read more here.
Keywords: renal amyloidosis; familial mediterranean; fever; group ... See more keywords
Clinical features and outcomes of renal amyloidosis in Hong Kong
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DOI: 10.1111/nep.14089
Abstract: Early symptoms of primary (AL) amyloidosis are non‐specific. Any delay in diagnosis and treatment results in poor outcome despite increasing treatment options. We aimed to determine baseline risk factors that identify patients with poor kidney… read more here.
Keywords: amyloidosis hong; renal amyloidosis; outcomes renal; features outcomes ... See more keywords
Typing of hereditary renal amyloidosis presenting with isolated glomerular amyloid deposition
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DOI: 10.1186/s12882-019-1667-5
Abstract: BackgroundThe commonly used methods for amyloid typing include immunofluorescence or immunohistochemistry (IHC), which sometimes may come with diagnostic pitfalls. Mass spectrometry (MS)-based proteomics has been recognized as a reliable technique in amyloid typing.Case presentationWe reported… read more here.
Keywords: renal amyloidosis; glomerular amyloid; case; amyloidosis ... See more keywords
Renal amyloidosis: a new time for a complete diagnosis
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DOI: 10.1590/1414-431x2022e12284
Abstract: 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… read more here.
Keywords: diagnosis; renal amyloidosis; time complete; amyloidosis new ... See more keywords
Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII.
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DOI: 10.1681/asn.2015111228
Abstract: Amyloidosis is characterized by extracellular deposition of misfolded proteins as insoluble fibrils. Most renal amyloidosis cases are Ig light chain, AA, or leukocyte chemotactic factor 2 amyloidosis, but rare hereditary forms can also involve the… read more here.
Keywords: renal amyloidosis; novel type; amyloidosis; apo cii ... See more keywords
Noninvasive Diagnostics of Renal Amyloidosis: Current State and Perspectives
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DOI: 10.3390/ijms232012662
Abstract: 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… read more here.
Keywords: renal amyloidosis; current state; noninvasive diagnostics; diagnostics renal ... See more keywords