Renal amyloidosis: an update on diagnosis and pathogenesis
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REVIEW
Renal amyloidosis: an update on diagnosis and pathogenesis Nimisha Gupta 1 & Harshdeep Kaur 1 & Saima Wajid 1 Received: 27 November 2019 / Accepted: 11 May 2020 # Springer-Verlag GmbH Austria, part of Springer Nature 2020
Abstract Amyloidosis is a diverse group of protein conformational disorder which is caused by accumulation and deposition of insoluble protein fibrils in vital tissues or organs, instigating organ dysfunction. Renal amyloidosis is characterized by the acellular Congo red–positive pathologic deposition of amyloid fibrils within glomeruli and/or the interstitium. It is generally composed of serum amyloid A–related protein or an immunoglobulin light chain; other rare forms lysozyme, gelsolin, fibrinogen alpha chain, transthyretin, apolipoproteins AI/AII/AIV/CII/CIII; and the recently identified form ALECT2. This disease typically manifests with heavy proteinuria, nephrotic syndrome, and finally progression to end-stage renal failure. Early diagnosis of renal amyloidosis is arduous as its symptoms appear in later stages with prominent amyloid deposition. The identification of the correct type of amyloidosis is quite troublesome as it can be confused with another related form. Therefore, the exact typing of amyloid is essential for prognosis, treatment, and correct management of renal amyloidosis. The emanation of new techniques of proteomic analysis, for instance, mass spectroscopy/laser microdissection, has provided greater accuracy in amyloid typing. This in-depth review emphasizes on the clinical features, renal pathological findings, and diagnosis of the AL and non-AL forms of renal amyloidosis. Keywords Renal amyloidosis . Amyloid typing . AL amyloidosis . Hereditary amyloidosis . Mass spectrometry . Laser microdissection
Abbreviation AA ACN Alys Agel ApoA1 ApoAII ApoAIII ApoAIV ApoACII
Amyloid A Acetonitrile Lysozyme amyloidosis Gelsolin amyloidosis Apolipoprotein A1 Apolipoprotein AII Apolipoprotein AIII Apolipoprotein AIV Apolipoprotein CII
Handling Editor: Klaudia Brix * Saima Wajid [email protected]; [email protected]; [email protected] Nimisha Gupta [email protected] Harshdeep Kaur [email protected] 1
Department of Biotechnology, School of Chemical and Life Sciences, Jamia Hamdard, New Delhi 110062, India
ApoACIII ALECT2 AL Afib AN ATTR CKD CRF CTS 1D-PAGE 2D-PAGE ESRD FITC FTIR FGA GFR H HDL IgG IHC IEF
Apolipoprotein CIII Amyloidogenic leukocyte chemotactic factor 2 Light chain amyloidosis Fibrinogen amyloidosis Autonomic neuropathy Transthyretin amyloidosis Chronic kidney disease Chronic renal failure Carpel tunnel syndrome One-dimensional gel electrophoresis Two-dimensional polyacrylamide gel electrophoresis End-stage renal diseases Fluorescein isothiocyanate Fourier transform infrared spectroscopy Fibrinogen alpha chain precursor Glomerular filtration rate Hereditary High-density lipoprotein Immunoglobulin G Immunohistochemistry Isoelectric focusing
N. Gupta et al.
kDa LMD LYZ L MS MT1-MMP MRI NAC OLT pI PCR PN RTx RFLP S SAA SAP ssNMR
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