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| __NOTOC__ | | __NOTOC__ |
| {{Renal Amyloidosis}} | | {{Renal Amyloidosis}} |
| {{CMG}}; {{AE}} | | {{CMG}} ; {{AE}} [[User:Okamal|Omer Kamal, M.D.]] [Mailto:okamal@bidmc.harvard.edu| <nowiki>[2]</nowiki>] |
| ==Overview== | | ==Overview== |
| | Nicolaus Fontanus was the first to describe [[amyloidosis]] based on the result of an autopsy while Rudolph Virchow was the first to introduce the term [[amyloidosis]]. [[Renal amyloidosis]] can be classified according to the site of [[amyloid]] deposition into glomerular, vascular, and tubular [[amyloidosis]]. Suggested mechanisms of renal involvement include abnormal [[protein]] production or hereditary mutation. If left untreated, [[renal amyloidosis]] may progress into end stage renal disease. Common complications include [[chronic renal failure]] and [[nephrotic syndrome]]. After a few years, [[renal amyloidosis]] eventually leads to end stage renal disease and it may be progressed in presence of certain factors such as steroid administration, [[renal vein thrombosis]], [[Infection|infections]] and [[surgery]]. There is insufficient evidence to recommend routine screening for [[renal amyloidosis]]. Renal biopsy is the gold standard test for the diagnosis of [[Renal amyloidosis|renal diagnosis]]. The mainstay of treatment for renal amyloidosis is to decrease the production or increase clearing of [[amyloid]]. Pharmacologic medical therapies for renal amyloidosis include [[colchicine]], [[azathioprine]], [[Dimethyl sulfoxide|dimethylsulfoxide]], [[chlorambucil]], [[methotrexate]], [[cyclophosphamide]] and TNF-alpha antagonists (ie, [[etanercept]], [[infliximab]], and [[adalimumab]]). |
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| ==Historical Perspective== | | ==Historical Perspective== |
| Nicolaus Fontanus was the first to describe amyloidosis based on the result of an autopsy while Rudolph Virchow was the first to intoduce the term amyloidosis. | | Nicolaus Fontanus was the first to describe [[amyloidosis]] based on the result of an autopsy while Rudolph Virchow was the first to introduce the term [[amyloidosis]]. |
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| ==Classification== | | ==Classification== |
| | | [[Renal amyloidosis]] can be classified according to the site of [[amyloid]] deposition into glomerular, vascular, and tubular [[amyloidosis]]. |
| Renal amyloidosis may be classified according to site of amyloid deposition into 3 subtypes:<ref name="pmid21360109">{{cite journal |vauthors=Bilginer Y, Akpolat T, Ozen S |title=Renal amyloidosis in children |journal=Pediatr. Nephrol. |volume=26 |issue=8 |pages=1215–27 |date=August 2011 |pmid=21360109 |pmc=3119800 |doi=10.1007/s00467-011-1797-x |url=}}</ref> | |
| *Glomerular amyloid deposition (more common and have a poorer prognosis)
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| *Vascular amyloid deposition
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| *Tubular amyloid deposition
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| Renal amyloidosis may be classified according to type of amyloidogenic protein into 3 subtypes:<ref name="pmid23704299">{{cite journal |vauthors=Said SM, Sethi S, Valeri AM, Leung N, Cornell LD, Fidler ME, Herrera Hernandez L, Vrana JA, Theis JD, Quint PS, Dogan A, Nasr SH |title=Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases |journal=Clin J Am Soc Nephrol |volume=8 |issue=9 |pages=1515–23 |date=September 2013 |pmid=23704299 |pmc=3805078 |doi=10.2215/CJN.10491012 |url=}}</ref>
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| {| class="wikitable"
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| !
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| !Amyloidosis type
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| !Amyloidogenic protein
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| |-
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| | rowspan="4" |Common types
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| | rowspan="3" |AL/AHL/AH
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| (Primary amyloidosis)
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| |Ig light chains (AL)
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| |-
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| |Fragments of Ig heavy chains and light chains (AHL)
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| |-
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| |Fragments of heavy chains only (AH)
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| |-
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| |AA
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| (Secondary amyloidosis)
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| |Serum amyloid A
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| |-
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| | rowspan="6" |Rare types
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| |AFib
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| |Fibrinogen A α chain
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| |-
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| |AApo AI/AII/AIV
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| |Apo AI, Apo AII, or Apo AIV
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| |-
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| |ATTR
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| |Transthyretin
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| |-
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| |ALys
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| |Lysozyme
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| |-
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| |AGel
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| |Gelsolin
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| |-
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| |ALECT2
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| |Leukocyte chemotactic factor 2
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| |}
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| ==Pathophysiology== | | ==Pathophysiology== |
| | | Suggested mechanisms of renal involvement include abnormal [[protein]] production or hereditary mutation. |
| ===Pathogenesis===
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| *In systemic amyloidosis (AL/AH/AHL is much more common than AA) kidney is the most frequently involved organ.<ref name="pmid23704299">{{cite journal |vauthors=Said SM, Sethi S, Valeri AM, Leung N, Cornell LD, Fidler ME, Herrera Hernandez L, Vrana JA, Theis JD, Quint PS, Dogan A, Nasr SH |title=Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases |journal=Clin J Am Soc Nephrol |volume=8 |issue=9 |pages=1515–23 |date=September 2013 |pmid=23704299 |pmc=3805078 |doi=10.2215/CJN.10491012 |url=}}</ref>
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| *In renal amyloidosis, the mechanisms of amyloidogenesis may include:<ref name="pmid25852856">{{cite journal |vauthors=Khalighi MA, Dean Wallace W, Palma-Diaz MF |title=Amyloid nephropathy |journal=Clin Kidney J |volume=7 |issue=2 |pages=97–106 |date=April 2014 |pmid=25852856 |pmc=4377792 |doi=10.1093/ckj/sfu021 |url=}}</ref>
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| **Abnormal protein production
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| **Overproduction wild-type proteins
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| **Decreased excretion of wild-type proteins
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| **Hereditary mutation
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| *In multiple myeloma, the cast nephropathy in distal tubules of nephrons results in renal impairment and deposition of AL amyloid protein in glomeruli can cause massive fibrillar involvement.<ref name="pmid27942184">{{cite journal |vauthors=Hajra A, Bandyopadhyay D |title=An interesting case of renal amyloidosis |journal=Indian J Nephrol |volume=26 |issue=6 |pages=467–469 |date=2016 |pmid=27942184 |pmc=5131391 |doi=10.4103/0971-4065.177143 |url=}}</ref>
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| ==Microscopic Pathology==
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| Microscopic Pathology of all types of amyloid after Congo red dye staining include: <ref name="pmid25852856">{{cite journal |vauthors=Khalighi MA, Dean Wallace W, Palma-Diaz MF |title=Amyloid nephropathy |journal=Clin Kidney J |volume=7 |issue=2 |pages=97–106 |date=April 2014 |pmid=25852856 |pmc=4377792 |doi=10.1093/ckj/sfu021 |url=}}</ref>
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| * Orange-red appearance by normal light microscopy
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| * Apple-green birefringence upon polarized light
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| For more general information about amyloidosis, click [[Amyloidosis|'''here''']].
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| ==Causes== | | ==Causes== |
| ===Common Causes===
| | Most common causes of renal [[amyloidosis]] include primary and secondary [[amyloidosis]]. Other causes include [[transthyretin]] and [[fibrinogen]] [[amyloid]] deposition. |
| In renal amyloidosis, most common causes include:<ref name="pmid23704299">{{cite journal |vauthors=Said SM, Sethi S, Valeri AM, Leung N, Cornell LD, Fidler ME, Herrera Hernandez L, Vrana JA, Theis JD, Quint PS, Dogan A, Nasr SH |title=Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases |journal=Clin J Am Soc Nephrol |volume=8 |issue=9 |pages=1515–23 |date=September 2013 |pmid=23704299 |pmc=3805078 |doi=10.2215/CJN.10491012 |url=}}</ref>
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| * Primary (AL) amyloidosis
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| * Secondary (AA) amyloidosis:
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| ** [[Tuberculosis|TB]]
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| ** [[Familial mediterranean fever|Familial mediterranean fever (FMF)]]
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| ** [[Rheumatoid arthritis|Rheumatoid arthritis (RA)]]
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| ** [[Multiple myeloma]]
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| ===Less Common Causes===
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| In renal amyloidosis, less common causes include:<ref name="pmid24497558">{{cite journal |vauthors=Mahmood S, Palladini G, Sanchorawala V, Wechalekar A |title=Update on treatment of light chain amyloidosis |journal=Haematologica |volume=99 |issue=2 |pages=209–21 |date=February 2014 |pmid=24497558 |pmc=3912950 |doi=10.3324/haematol.2013.087619 |url=}}</ref>
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| *.Hereditary amyloidosis due to amyloidogenic [[Mutation|mutations]]:
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| ** [[Transthyretin|Transthyretin (TTR)]] (most common [[inherited]] [[mutation]])
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| ** [[Fibrinogen]]
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| ** [[Apolipoprotein A1]]
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| ** [[Apolipoprotein A2]]
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| ** [[Lysozyme]]
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| ** [[Gelsolin]] [[Gene|genes]]
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| ==Differentiating Renal amyloidosis from Other Diseases== | | ==Differentiating Renal amyloidosis from Other Diseases== |
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| ==Epidemiology and Demographics== | | ==Epidemiology and Demographics== |
| ===Incidence===
| | The [[incidence]] is 97 to 140 cases per 100,000 individuals. The incidence of renal amyloidosis increases with age; the median age at diagnosis is 65 years. |
| The incidence is 9.7 to 14.0 cases per million person-years.<ref name="pmid29748430">{{cite journal |vauthors=Quock TP, Yan T, Chang E, Guthrie S, Broder MS |title=Epidemiology of AL amyloidosis: a real-world study using US claims data |journal=Blood Adv |volume=2 |issue=10 |pages=1046–1053 |date=May 2018 |pmid=29748430 |pmc=5965052 |doi=10.1182/bloodadvances.2018016402 |url=}}</ref> | |
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| ===Prevalence===
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| The prevalence of AL amyloidosis was 40.5 in 2015, an annual percentage change (APC) of 12%. <ref name="pmid29748430" /> | |
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| ===Mortality rate===
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| *AL has higher mortality than AA type<ref name="pmid18184882">{{cite journal |vauthors=Bollée G, Guery B, Joly D, Snanoudj R, Terrier B, Allouache M, Mercadal L, Peraldi MN, Viron B, Fumeron C, Elie C, Fakhouri F |title=Presentation and outcome of patients with systemic amyloidosis undergoing dialysis |journal=Clin J Am Soc Nephrol |volume=3 |issue=2 |pages=375–81 |date=March 2008 |pmid=18184882 |pmc=2390937 |doi=10.2215/CJN.02470607 |url=}}</ref>
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| ===Age===
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| *In renal amyloidosis, is usually first diagnosed in average age of 65 years and it is uncommon before age of 40.<ref name="pmid25852856">{{cite journal |vauthors=Khalighi MA, Dean Wallace W, Palma-Diaz MF |title=Amyloid nephropathy |journal=Clin Kidney J |volume=7 |issue=2 |pages=97–106 |date=April 2014 |pmid=25852856 |pmc=4377792 |doi=10.1093/ckj/sfu021 |url=}}</ref><ref name="pmid27942184">{{cite journal |vauthors=Hajra A, Bandyopadhyay D |title=An interesting case of renal amyloidosis |journal=Indian J Nephrol |volume=26 |issue=6 |pages=467–469 |date=2016 |pmid=27942184 |pmc=5131391 |doi=10.4103/0971-4065.177143 |url=}}</ref>
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| ===Race===
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| *There is no racial predilection to renal amyloidosis.
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| ===Gender===
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| *In renal amyloidosis, the male to female ratio is approximately 2 to 1.<ref name="pmid25852856">{{cite journal |vauthors=Khalighi MA, Dean Wallace W, Palma-Diaz MF |title=Amyloid nephropathy |journal=Clin Kidney J |volume=7 |issue=2 |pages=97–106 |date=April 2014 |pmid=25852856 |pmc=4377792 |doi=10.1093/ckj/sfu021 |url=}}</ref>
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| ===Region===
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| *ALECT2 is more frequent in the United States area.<ref name="pmid23704299">{{cite journal |vauthors=Said SM, Sethi S, Valeri AM, Leung N, Cornell LD, Fidler ME, Herrera Hernandez L, Vrana JA, Theis JD, Quint PS, Dogan A, Nasr SH |title=Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases |journal=Clin J Am Soc Nephrol |volume=8 |issue=9 |pages=1515–23 |date=September 2013 |pmid=23704299 |pmc=3805078 |doi=10.2215/CJN.10491012 |url=}}</ref>
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| *AFib cases are most reported in Europe countries.
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| ==Risk Factors== | | ==Risk Factors== |
| The most potent risk factor in the development of Renal amyloidosis are genetic . Other risk factors include age.<ref name="pmid19790131" />
| | Common risk factors in the development of renal amyloidosis may be environmental and genetic such as heterozygous mutations in the genes for [[lysozyme]], [[Apolipoprotein A1|apolipoprotein AI]], [[Apolipoprotein A2|apolipoprotein AII]], or [[Fibrinogen alpha chain|fibrinogen]] A alpha-chain. |
| ===Common Risk Factors===
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| *Common risk factors in the development of Renal amyloidosis may be environmental and genetic.
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| *Common risk factors in the development of Renal amyloidosis include:<ref name="pmid19790131">{{cite journal |vauthors=Obici L, Raimondi S, Lavatelli F, Bellotti V, Merlini G |title=Susceptibility to AA amyloidosis in rheumatic diseases: a critical overview |journal=Arthritis Rheum. |volume=61 |issue=10 |pages=1435–40 |date=October 2009 |pmid=19790131 |doi=10.1002/art.24735 |url=}}</ref><ref name="pmid10036584">{{cite journal |vauthors=Booth DR, Booth SE, Gillmore JD, Hawkins PN, Pepys MB |title=SAA1 alleles as risk factors in reactive systemic AA amyloidosis |journal=Amyloid |volume=5 |issue=4 |pages=262–5 |date=December 1998 |pmid=10036584 |doi= |url=}}</ref>
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| **Age
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| **SAA1
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| **Point mutations in the ''apoAI'' gene
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| **Point mutations in the ''apoAII'' gene
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| **Heterozygous mutations in the genes for lysozyme, apolipoprotein AI, apolipoprotein AII, or fibrinogen A alpha-chain
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| ==Screening== | | ==Screening== |
| There is insufficient evidence to recommend routine screening for renal amyloidosis. | | There is insufficient evidence to recommend routine screening for [[renal amyloidosis]]. |
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| ==Natural History, Complications, and Prognosis== | | ==Natural History, Complications, and Prognosis== |
| | | If left untreated, [[renal amyloidosis]] may progress into end stage renal disease. Common complications include chronic renal failure and nephrotic syndrome. After a few years, [[renal amyloidosis]] eventually leads to end stage renal disease and it may be accelerated by some factors such as steroid administration, [[renal vein thrombosis]], [[Infection|infections]] and [[surgery]]. |
| ===Natural History===
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| *If renal amyloidosis left untreated it usually manifests as nephrotic range proteinuria and then progresses to acute kidney injury and then end stage renal disease.<ref name="pmid27840752">{{cite journal |vauthors=Lohani S, Schuiteman E, Garg L, Yadav D, Zarouk S |title=Apolipoprotein C-II Deposition Amyloidosis: A Potential Misdiagnosis as Light Chain Amyloidosis |journal=Case Rep Nephrol |volume=2016 |issue= |pages=8690642 |date=2016 |pmid=27840752 |pmc=5093243 |doi=10.1155/2016/8690642 |url=}}</ref>
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| ===Complications===
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| *Common complications of renal amyloidosis include:<ref name="pmid21360109">{{cite journal |vauthors=Bilginer Y, Akpolat T, Ozen S |title=Renal amyloidosis in children |journal=Pediatr. Nephrol. |volume=26 |issue=8 |pages=1215–27 |date=August 2011 |pmid=21360109 |pmc=3119800 |doi=10.1007/s00467-011-1797-x |url=}}</ref><ref name="pmid27942184">{{cite journal |vauthors=Hajra A, Bandyopadhyay D |title=An interesting case of renal amyloidosis |journal=Indian J Nephrol |volume=26 |issue=6 |pages=467–469 |date=2016 |pmid=27942184 |pmc=5131391 |doi=10.4103/0971-4065.177143 |url=}}</ref>
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| **Proteinuria (32%)
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| **Nephrotic syndrome (40%)
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| **Chronic renal failure (28%)
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| **Hypoalbuminemia
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| ===Prognosis===
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| *After a few years, renal amyloidosis eventually leads to end stage renal disease and it may be accelerated by some factors such as:<ref name="pmid10231478">{{cite journal |vauthors=Kaaroud H, Ben Moussa F, Goucha R, Abderrahim E, Ben Hamida F, Ben Hamida F, Ben Hamida F, Kheder A, Ben Miaz H |title=Influence of surgery on renal amyloidosis |journal=Kidney Int. |volume=55 |issue=5 |pages=2117–2133 |date=May 1999 |pmid=10231478 |doi=10.1046/j.1523-1755.1999.00455.x |url=}}</ref>
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| **Steroid administration
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| **Renal vein thrombosis
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| **Infections
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| **Surgery
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| ==Diagnosis== | | ==Diagnosis== |
| ===Diagnostic Study of Choice=== | | ===Diagnostic Study of Choice=== |
| Biopsy is the gold standard test for the diagnosis of [[Renal amyloidosis]].<ref name="pmid2912466">{{cite journal |vauthors=Duston MA, Skinner M, Meenan RF, Cohen AS |title=Sensitivity, specificity, and predictive value of abdominal fat aspiration for the diagnosis of amyloidosis |journal=Arthritis Rheum. |volume=32 |issue=1 |pages=82–5 |date=January 1989 |pmid=2912466 |doi= |url=}}</ref>
| | Renal biopsy is the gold standard test for the diagnosis of [[Renal amyloidosis|renal diagnosis]] |
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| ===History and Symptoms=== | | ===History and Symptoms=== |
| *The majority of patients with [[Renal amyloidosis]] have [[proteinuria]] and [[hematuria]].
| | The majority of patients with renal amyloidosis have [[proteinuria]]. [[Swelling]] is very common in lower limbs. [[Numbness]] or tingling in hands or feet ([[carpal tunnel syndrome]]) is a less common finding. |
| ===History===
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| Patients with [[Renal amyloidosis]] may have a positive history of:
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| *[[Hematuria]]
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| *[[Swelling]] of lower limbs
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| ===Common Symptoms===
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| Common symptoms of [disease] include:<ref name="pmid7848315">{{cite journal |vauthors=Helin HJ, Korpela MM, Mustonen JT, Pasternack AI |title=Renal biopsy findings and clinicopathologic correlations in rheumatoid arthritis |journal=Arthritis Rheum. |volume=38 |issue=2 |pages=242–7 |date=February 1995 |pmid=7848315 |doi= |url=}}</ref><ref name="pmid4688790">{{cite journal |vauthors=Triger DR, Joekes AM |title=Renal amyloidosis--a fourteen-year follow-up |journal=Q. J. Med. |volume=42 |issue=165 |pages=15–40 |date=January 1973 |pmid=4688790 |doi= |url=}}</ref>
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| * Swelling of ankles and legs<ref name="pmid7848315">{{cite journal |vauthors=Helin HJ, Korpela MM, Mustonen JT, Pasternack AI |title=Renal biopsy findings and clinicopathologic correlations in rheumatoid arthritis |journal=Arthritis Rheum. |volume=38 |issue=2 |pages=242–7 |date=February 1995 |pmid=7848315 |doi= |url=}}</ref>
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| * Severe fatigue
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| * [[Weakness]]
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| * Shortness of breath
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| * [[Diarrheal|Diarrhea]] with blood
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| * [[Constipation]]
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| * Unintentional, significant [[weight loss]]
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| ===Less Common Symptoms===
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| Less common symptoms of [disease name] include
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| *[[Numbness]] or tingling in hands or feet ([[carpal tunnel syndrome]])
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| ===Physical Examination=== | | ===Physical Examination=== |
| | Physical examination of patients with [[renal amyloidosis]] is usually remarkable for [[swelling]], [[hepatosplenomegaly]], facial or neck [[purpura]] and [[macroglossia]]. Fatigue and unintentional [[weight loss]], are common in patients with AL [[amyloidosis]]. [[Tachycardia]]/[[bradycardia]] depends on the accompanying [[complication]]. Pulmonary fine [[crackles]], faint pulmonary auscultation, suggestive of [[pleural effusion]], decreased [[tactile fremitus]] and dull percussion. |
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| ===Laboratory Findings=== | | ===Laboratory Findings=== |
| * In patients with secondary amyloidosis, urinalysis should be routinely examined.<ref name="pmid213601092">{{cite journal |vauthors=Bilginer Y, Akpolat T, Ozen S |title=Renal amyloidosis in children |journal=Pediatr. Nephrol. |volume=26 |issue=8 |pages=1215–27 |date=August 2011 |pmid=21360109 |pmc=3119800 |doi=10.1007/s00467-011-1797-x |url=}}</ref>
| | In patients with secondary [[amyloidosis]], [[urinalysis]] should be routinely examined. Laboratory findings consistent with the diagnosis of [[renal amyloidosis]] include [[proteinuria]] and increased serum [[creatinine]] |
| * Laboratory findings consistent with the diagnosis of renal amyloidosis include:<ref name="pmid213601092">{{cite journal |vauthors=Bilginer Y, Akpolat T, Ozen S |title=Renal amyloidosis in children |journal=Pediatr. Nephrol. |volume=26 |issue=8 |pages=1215–27 |date=August 2011 |pmid=21360109 |pmc=3119800 |doi=10.1007/s00467-011-1797-x |url=}}</ref><ref name="pmid25852856">{{cite journal |vauthors=Khalighi MA, Dean Wallace W, Palma-Diaz MF |title=Amyloid nephropathy |journal=Clin Kidney J |volume=7 |issue=2 |pages=97–106 |date=April 2014 |pmid=25852856 |pmc=4377792 |doi=10.1093/ckj/sfu021 |url=}}</ref>
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| ** Proteinuria
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| **Serum creatinine
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| ===Electrocardiogram=== | | ===Electrocardiogram=== |
| There are no ECG findings associated with renal amyloidosis. | | There are no ECG findings associated with [[renal amyloidosis]]. |
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| ===X-ray=== | | ===X-ray=== |
| There are no definitive findings on x-ray associated with Renal amyloidosis. | | There are no definitive findings on x-ray associated with [[renal amyloidosis]]. |
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| ===Echocardiography and Ultrasound=== | | ===Echocardiography and Ultrasound=== |
| There are no echocardiography/ultrasound findings associated with renal amyloidosis | | There are no echocardiography/ultrasound findings associated with [[renal amyloidosis]] |
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| ===CT scan=== | | ===CT scan=== |
| There are no CT scan findings associated with Renal amyloidosis | | There are no CT scan findings associated with [[renal amyloidosis]] |
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| ===MRI=== | | ===MRI=== |
| There are no MRI findings associated with renal amyloidosis. | | There are no MRI findings associated with [[renal amyloidosis]]. |
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| ===Other Imaging Findings=== | | ===Other Imaging Findings=== |
| There are no other imaging findings associated with renal amyloidosis. | | There are no other imaging findings associated with [[renal amyloidosis]] |
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| ===Other Diagnostic Studies=== | | ===Other Diagnostic Studies=== |
| === Kidney biopsy ===
| | Kidney biopsy can represent amyloid deposition as [[vascular]], [[tubulo-interstitial]] and/or [[glomerular]] deposits. All types of [[amyloidogenic]] proteins show affinity for Congo red dye. |
| *Kidney biopsy can represent amyloid deposition as vascular, tubulo-interstitial and/or glomerular deposits.<ref name="pmid19561448">{{cite journal |vauthors=von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C |title=Prevalence and origin of amyloid in kidney biopsies |journal=Am. J. Surg. Pathol. |volume=33 |issue=8 |pages=1198–205 |date=August 2009 |pmid=19561448 |doi=10.1097/PAS.0b013e3181abdfa7 |url=}}</ref>
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| *In evaluation of kidney biopsy specimens, types of amyloidogenic proteins can be discovered.<ref name="pmid25852856">{{cite journal |vauthors=Khalighi MA, Dean Wallace W, Palma-Diaz MF |title=Amyloid nephropathy |journal=Clin Kidney J |volume=7 |issue=2 |pages=97–106 |date=April 2014 |pmid=25852856 |pmc=4377792 |doi=10.1093/ckj/sfu021 |url=}}</ref>
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| === Congo red staining ===
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| * All types of amyloidogenic proteins show affinity for Congo red dye, which demonstrates as:<ref name="pmid258528562">{{cite journal |vauthors=Khalighi MA, Dean Wallace W, Palma-Diaz MF |title=Amyloid nephropathy |journal=Clin Kidney J |volume=7 |issue=2 |pages=97–106 |date=April 2014 |pmid=25852856 |pmc=4377792 |doi=10.1093/ckj/sfu021 |url=}}</ref>
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| ** Orange-red appearance by normal light microscopy
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| ** Apple-green birefringence upon polarized light
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| ==Treatment== | | ==Treatment== |
| ===Medical Therapy=== | | ===Medical Therapy=== |
| *Pharmacologic medical therapies for [[Renal amyloidosis]] include
| | The mainstay of treatment for renal amyloidosis is to decrease the production or increase clearing of [[amyloid]]. Pharmacologic medical therapies for renal amyloidosis include [[colchicine]], [[azathioprine]], [[Dimethyl sulfoxide|dimethylsulfoxide]], [[chlorambucil]], [[methotrexate]], [[cyclophosphamide]] and TNF-alpha antagonists (ie, [[etanercept]], [[infliximab]], and [[adalimumab]]). |
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| * [[Colchicine]] <ref name="pmid1584316">{{cite journal |vauthors=Livneh A, Zemer D, Siegal B, Laor A, Sohar E, Pras M |title=Colchicine prevents kidney transplant amyloidosis in familial Mediterranean fever |journal=Nephron |volume=60 |issue=4 |pages=418–22 |date=1992 |pmid=1584316 |doi=10.1159/000186801 |url=}}</ref><ref name="pmid14978665">{{cite journal |vauthors=Lidar M, Scherrmann JM, Shinar Y, Chetrit A, Niel E, Gershoni-Baruch R, Langevitz P, Livneh A |title=Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization |journal=Semin. Arthritis Rheum. |volume=33 |issue=4 |pages=273–82 |date=February 2004 |pmid=14978665 |doi= |url=}}</ref><ref name="pmid7780053">{{cite journal |vauthors=Tan AU, Cohen AH, Levine BS |title=Renal amyloidosis in a drug abuser |journal=J. Am. Soc. Nephrol. |volume=5 |issue=9 |pages=1653–8 |date=March 1995 |pmid=7780053 |doi= |url=}}</ref>
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| * [[Azathioprine]]
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| * [[Dimethyl sulfoxide|Dimethylsulfoxide]]<ref name="pmid10576978">{{cite journal |vauthors=Iwakiri R, Sakemi T, Fujimoto K |title=Dimethylsulfoxide for renal dysfunction caused by systemic amyloidosis complicating Crohn's disease |journal=Gastroenterology |volume=117 |issue=4 |pages=1031–2 |date=October 1999 |pmid=10576978 |doi= |url=}}</ref><ref name="pmid16799886">{{cite journal |vauthors=Amemori S, Iwakiri R, Endo H, Ootani A, Ogata S, Noda T, Tsunada S, Sakata H, Matsunaga H, Mizuguchi M, Ikeda Y, Fujimoto K |title=Oral dimethyl sulfoxide for systemic amyloid A amyloidosis complication in chronic inflammatory disease: a retrospective patient chart review |journal=J. Gastroenterol. |volume=41 |issue=5 |pages=444–9 |date=May 2006 |pmid=16799886 |doi=10.1007/s00535-006-1792-3 |url=}}</ref>
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| * [[Chlorambucil]]
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| * [[Methotrexate]]
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| * [[Cyclophosphamide]] <ref name="pmid11477289">{{cite journal |vauthors=Chevrel G, Jenvrin C, McGregor B, Miossec P |title=Renal type AA amyloidosis associated with rheumatoid arthritis: a cohort study showing improved survival on treatment with pulse cyclophosphamide |journal=Rheumatology (Oxford) |volume=40 |issue=7 |pages=821–5 |date=July 2001 |pmid=11477289 |doi= |url=}}</ref><ref name="pmid14677008">{{cite journal |vauthors=Nakamura T, Yamamura Y, Tomoda K, Tsukano M, Shono M, Baba S |title=Efficacy of cyclophosphamide combined with prednisolone in patients with AA amyloidosis secondary to rheumatoid arthritis |journal=Clin. Rheumatol. |volume=22 |issue=6 |pages=371–5 |date=December 2003 |pmid=14677008 |doi=10.1007/s10067-003-0763-9 |url=}}</ref>
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| * TNF-alpha antagonists (ie, [[etanercept]], [[infliximab]], and [[adalimumab]])<ref name="pmid12847696">{{cite journal |vauthors=Gottenberg JE, Merle-Vincent F, Bentaberry F, Allanore Y, Berenbaum F, Fautrel B, Combe B, Durbach A, Sibilia J, Dougados M, Mariette X |title=Anti-tumor necrosis factor alpha therapy in fifteen patients with AA amyloidosis secondary to inflammatory arthritides: a followup report of tolerability and efficacy |journal=Arthritis Rheum. |volume=48 |issue=7 |pages=2019–24 |date=July 2003 |pmid=12847696 |doi=10.1002/art.11163 |url=}}</ref><ref name="pmid15866260">{{cite journal |vauthors=Fernández-Nebro A, Tomero E, Ortiz-Santamaría V, Castro MC, Olivé A, de Haro M, Portales RG, García-Vicuña R, González-Mari MV, Laffón A, García-Vicuña R |title=Treatment of rheumatic inflammatory disease in 25 patients with secondary amyloidosis using tumor necrosis factor alpha antagonists |journal=Am. J. Med. |volume=118 |issue=5 |pages=552–6 |date=May 2005 |pmid=15866260 |doi=10.1016/j.amjmed.2005.01.028 |url=}}</ref><ref name="pmid20440529">{{cite journal |vauthors=Nakamura T, Higashi S, Tomoda K, Tsukano M, Shono M |title=Etanercept can induce resolution of renal deterioration in patients with amyloid A amyloidosis secondary to rheumatoid arthritis |journal=Clin. Rheumatol. |volume=29 |issue=12 |pages=1395–401 |date=December 2010 |pmid=20440529 |doi=10.1007/s10067-010-1469-4 |url=}}</ref><ref name="pmid19366896">{{cite journal |vauthors=Keersmaekers T, Claes K, Kuypers DR, de Vlam K, Verschueren P, Westhovens R |title=Long-term efficacy of infliximab treatment for AA-amyloidosis secondary to chronic inflammatory arthritis |journal=Ann. Rheum. Dis. |volume=68 |issue=5 |pages=759–61 |date=May 2009 |pmid=19366896 |doi=10.1136/ard.2008.095505 |url=}}</ref>
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| *[[Proline]] for clearing amyloid <ref name="pmid12015594">{{cite journal |vauthors=Pepys MB, Herbert J, Hutchinson WL, Tennent GA, Lachmann HJ, Gallimore JR, Lovat LB, Bartfai T, Alanine A, Hertel C, Hoffmann T, Jakob-Roetne R, Norcross RD, Kemp JA, Yamamura K, Suzuki M, Taylor GW, Murray S, Thompson D, Purvis A, Kolstoe S, Wood SP, Hawkins PN |title=Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis |journal=Nature |volume=417 |issue=6886 |pages=254–9 |date=May 2002 |pmid=12015594 |doi=10.1038/417254a |url=}}</ref><ref name="pmid20064157">{{cite journal |vauthors=Gillmore JD, Tennent GA, Hutchinson WL, Gallimore JR, Lachmann HJ, Goodman HJ, Offer M, Millar DJ, Petrie A, Hawkins PN, Pepys MB |title=Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis |journal=Br. J. Haematol. |volume=148 |issue=5 |pages=760–7 |date=March 2010 |pmid=20064157 |doi=10.1111/j.1365-2141.2009.08036.x |url=}}</ref>
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| ===Surgery=== | | ===Surgery=== |
| *In [[renal amyloidosis]], [[surgery]] is usually reserved for patients developed with end stage renal disease.<ref name="pmid225623702">{{cite journal |vauthors=Gursu M, Yelken B, Caliskan Y, Kazancioglu R, Yazici H, Kilicaslan I, Turkmen A, Sever MS |title=Outcome of patients with amyloidosis after renal transplantation: a single-center experience |journal=Int J Artif Organs |volume=35 |issue=6 |pages=444–9 |date=June 2012 |pmid=22562370 |doi=10.5301/ijao.5000091 |url=}}</ref>
| | In [[renal amyloidosis]], [[surgery]] is usually reserved for patients developed with end stage renal disease. The patients with [[renal amyloidosis]] are good candidates for transplantation. In primary amyloidosis, [[Kidney transplantation|renal transplantation]] is considered and it will improve long-term survival and quality of life. |
| === Renal transplantation ===
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| *In [[renal amyloidosis]], renal transplantation is an alternative approach to chronic dialysis.<ref name="pmid9642504">{{cite journal |vauthors=Heering P, Hetzel R, Grabensee B, Opelz G |title=Renal transplantation in secondary systemic amyloidosis |journal=Clin Transplant |volume=12 |issue=3 |pages=159–64 |date=June 1998 |pmid=9642504 |doi= |url=}}</ref>
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| *The patients with [[renal amyloidosis]] are good candidates for transplantation.<ref name="pmid225623702">{{cite journal |vauthors=Gursu M, Yelken B, Caliskan Y, Kazancioglu R, Yazici H, Kilicaslan I, Turkmen A, Sever MS |title=Outcome of patients with amyloidosis after renal transplantation: a single-center experience |journal=Int J Artif Organs |volume=35 |issue=6 |pages=444–9 |date=June 2012 |pmid=22562370 |doi=10.5301/ijao.5000091 |url=}}</ref>
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| *In primary amyloidosis, [[Kidney transplantation|renal transplantation]] is considered and it will improve long-term survival and quality of life.<ref name="pmid24497558">{{cite journal |vauthors=Mahmood S, Palladini G, Sanchorawala V, Wechalekar A |title=Update on treatment of light chain amyloidosis |journal=Haematologica |volume=99 |issue=2 |pages=209–21 |date=February 2014 |pmid=24497558 |pmc=3912950 |doi=10.3324/haematol.2013.087619 |url=}}</ref>
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| ===Primary Prevention=== | | ===Primary Prevention=== |
| There are no established measures for the primary prevention of renal amyloidosis. | | There are no established measures for the primary prevention of [[renal amyloidosis]]. |
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| ===Secondary Prevention=== | | ===Secondary Prevention=== |
| * Treatment of the primary disease and underlying cause will provide favorable renal outcome.<ref name="pmid27942184">{{cite journal |vauthors=Hajra A, Bandyopadhyay D |title=An interesting case of renal amyloidosis |journal=Indian J Nephrol |volume=26 |issue=6 |pages=467–469 |date=2016 |pmid=27942184 |pmc=5131391 |doi=10.4103/0971-4065.177143 |url=}}</ref>
| | Treatment of the primary disease and underlying cause will provide favorable renal outcome.{{WikiDoc Help Menu}} |
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| ==References==
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| {{WikiDoc Sources}} | | {{WikiDoc Sources}} |
| [[Category: (name of the system)]] | | [[Category: (name of the system)]] |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Omer Kamal, M.D. [2]
Overview
Nicolaus Fontanus was the first to describe amyloidosis based on the result of an autopsy while Rudolph Virchow was the first to introduce the term amyloidosis. Renal amyloidosis can be classified according to the site of amyloid deposition into glomerular, vascular, and tubular amyloidosis. Suggested mechanisms of renal involvement include abnormal protein production or hereditary mutation. If left untreated, renal amyloidosis may progress into end stage renal disease. Common complications include chronic renal failure and nephrotic syndrome. After a few years, renal amyloidosis eventually leads to end stage renal disease and it may be progressed in presence of certain factors such as steroid administration, renal vein thrombosis, infections and surgery. There is insufficient evidence to recommend routine screening for renal amyloidosis. Renal biopsy is the gold standard test for the diagnosis of renal diagnosis. The mainstay of treatment for renal amyloidosis is to decrease the production or increase clearing of amyloid. Pharmacologic medical therapies for renal amyloidosis include colchicine, azathioprine, dimethylsulfoxide, chlorambucil, methotrexate, cyclophosphamide and TNF-alpha antagonists (ie, etanercept, infliximab, and adalimumab).
Historical Perspective
Nicolaus Fontanus was the first to describe amyloidosis based on the result of an autopsy while Rudolph Virchow was the first to introduce the term amyloidosis.
Classification
Renal amyloidosis can be classified according to the site of amyloid deposition into glomerular, vascular, and tubular amyloidosis.
Pathophysiology
Suggested mechanisms of renal involvement include abnormal protein production or hereditary mutation.
Causes
Most common causes of renal amyloidosis include primary and secondary amyloidosis. Other causes include transthyretin and fibrinogen amyloid deposition.
Differentiating Renal amyloidosis from Other Diseases
Epidemiology and Demographics
The incidence is 97 to 140 cases per 100,000 individuals. The incidence of renal amyloidosis increases with age; the median age at diagnosis is 65 years.
Risk Factors
Common risk factors in the development of renal amyloidosis may be environmental and genetic such as heterozygous mutations in the genes for lysozyme, apolipoprotein AI, apolipoprotein AII, or fibrinogen A alpha-chain.
Screening
There is insufficient evidence to recommend routine screening for renal amyloidosis.
Natural History, Complications, and Prognosis
If left untreated, renal amyloidosis may progress into end stage renal disease. Common complications include chronic renal failure and nephrotic syndrome. After a few years, renal amyloidosis eventually leads to end stage renal disease and it may be accelerated by some factors such as steroid administration, renal vein thrombosis, infections and surgery.
Diagnosis
Diagnostic Study of Choice
Renal biopsy is the gold standard test for the diagnosis of renal diagnosis
History and Symptoms
The majority of patients with renal amyloidosis have proteinuria. Swelling is very common in lower limbs. Numbness or tingling in hands or feet (carpal tunnel syndrome) is a less common finding.
Physical Examination
Physical examination of patients with renal amyloidosis is usually remarkable for swelling, hepatosplenomegaly, facial or neck purpura and macroglossia. Fatigue and unintentional weight loss, are common in patients with AL amyloidosis. Tachycardia/bradycardia depends on the accompanying complication. Pulmonary fine crackles, faint pulmonary auscultation, suggestive of pleural effusion, decreased tactile fremitus and dull percussion.
Laboratory Findings
In patients with secondary amyloidosis, urinalysis should be routinely examined. Laboratory findings consistent with the diagnosis of renal amyloidosis include proteinuria and increased serum creatinine
Electrocardiogram
There are no ECG findings associated with renal amyloidosis.
X-ray
There are no definitive findings on x-ray associated with renal amyloidosis.
Echocardiography and Ultrasound
There are no echocardiography/ultrasound findings associated with renal amyloidosis
CT scan
There are no CT scan findings associated with renal amyloidosis
MRI
There are no MRI findings associated with renal amyloidosis.
Other Imaging Findings
There are no other imaging findings associated with renal amyloidosis
Other Diagnostic Studies
Kidney biopsy can represent amyloid deposition as vascular, tubulo-interstitial and/or glomerular deposits. All types of amyloidogenic proteins show affinity for Congo red dye.
Treatment
Medical Therapy
The mainstay of treatment for renal amyloidosis is to decrease the production or increase clearing of amyloid. Pharmacologic medical therapies for renal amyloidosis include colchicine, azathioprine, dimethylsulfoxide, chlorambucil, methotrexate, cyclophosphamide and TNF-alpha antagonists (ie, etanercept, infliximab, and adalimumab).
Surgery
In renal amyloidosis, surgery is usually reserved for patients developed with end stage renal disease. The patients with renal amyloidosis are good candidates for transplantation. In primary amyloidosis, renal transplantation is considered and it will improve long-term survival and quality of life.
Primary Prevention
There are no established measures for the primary prevention of renal amyloidosis.
Secondary Prevention
Treatment of the primary disease and underlying cause will provide favorable renal outcome.
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