Renal amyloidosis overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Historical Perspective
- In 1639, Nicolaus Fontanus autopsied a young man who had ascitis, jaundice, liver abscess and splenomegaly and his report has been the first description of amyloidosis.[1]
- In 1854, Rudolph Virchow introduced the term of amyloid as an macroscopic abnormality in some tissues.[2]
- In 1969, Finnish-type familial amyloidosis (FAF) was first described as one of the causes of renal amyloidosis.[3]
Classification
Renal amyloidosis may be classified according to site of amyloid deposition into 3 subtypes:[4]
- Glomerular amyloid deposition (more common and have a poorer prognosis)
- Vascular amyloid deposition
- Tubular amyloid deposition
Renal amyloidosis may be classified according to type of amyloidogenic protein into 3 subtypes:[5]
| Amyloidosis type | Amyloidogenic protein | |
|---|---|---|
| Common types | AL/AHL/AH
(Primary amyloidosis) |
Ig light chains (AL) |
| Fragments of Ig heavy chains and light chains (AHL) | ||
| Fragments of heavy chains only (AH) | ||
| AA
(Secondary amyloidosis) |
Serum amyloid A | |
| Rare types | AFib | Fibrinogen A α chain |
| AApo AI/AII/AIV | Apo AI, Apo AII, or Apo AIV | |
| ATTR | Transthyretin | |
| ALys | Lysozyme | |
| AGel | Gelsolin | |
| ALECT2 | Leukocyte chemotactic factor 2 |
Pathophysiology
Pathogenesis
- In systemic amyloidosis (AL/AH/AHL is much more common than AA) kidney is the most frequently involved organ.[5]
- In renal amyloidosis, the mechanisms of amyloidogenesis may include:[6]
- Abnormal protein production
- Overproduction wild-type proteins
- Decreased excretion of wild-type proteins
- Hereditary mutation
- 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.[7]
Microscopic Pathology
Microscopic Pathology of all types of amyloid after Congo red dye staining include: [6]
- Orange-red appearance by normal light microscopy
- Apple-green birefringence upon polarized light
For more general information about amyloidosis, click here.
Causes
Common Causes
In renal amyloidosis, most common causes include:[5]
- Primary (AL) amyloidosis
- Secondary (AA) amyloidosis:
Less Common Causes
In renal amyloidosis, less common causes include:[8]
- .Hereditary amyloidosis due to amyloidogenic mutations:
Differentiating Renal amyloidosis from Other Diseases
Epidemiology and Demographics
Incidence
The incidence is 9.7 to 14.0 cases per million person-years.[9]
Prevalence
The prevalence of AL amyloidosis was 40.5 in 2015, an annual percentage change (APC) of 12%. [9]
Mortality rate
- AL has higher mortality than AA type[10]
Age
- In renal amyloidosis, is usually first diagnosed in average age of 65 years and it is uncommon before age of 40.[6][7]
Race
- There is no racial predilection to renal amyloidosis.
Gender
- In renal amyloidosis, the male to female ratio is approximately 2 to 1.[6]
Region
- ALECT2 is more frequent in the United States area.[5]
- AFib cases are most reported in Europe countries.
Risk Factors
The most potent risk factor in the development of Renal amyloidosis are genetic . Other risk factors include age.[11]
Common Risk Factors
- Common risk factors in the development of Renal amyloidosis may be environmental and genetic.
- Common risk factors in the development of Renal amyloidosis include:[11][12]
- Age
- SAA1
- Point mutations in the apoAI gene
- Point mutations in the apoAII gene
- 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
Natural History
- 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.[13]
Complications
- Common complications of renal amyloidosis include:[4][7]
- Proteinuria (32%)
- Nephrotic syndrome (40%)
- Chronic renal failure (28%)
- Hypoalbuminemia
Prognosis
- After a few years, renal amyloidosis eventually leads to end stage renal disease and it may be accelerated by some factors such as:[14]
- Steroid administration
- Renal vein thrombosis
- Infections
- Surgery
Diagnosis
Diagnostic Study of Choice
Biopsy is the gold standard test for the diagnosis of Renal amyloidosis.[15]
History and Symptoms
- The majority of patients with Renal amyloidosis have proteinuria and hematuria.
History
Patients with Renal amyloidosis may have a positive history of:
Common Symptoms
Common symptoms of [disease] include:[16][17]
- Swelling of ankles and legs[16]
- Severe fatigue
- Weakness
- Shortness of breath
- Diarrhea with blood
- Constipation
- Unintentional, significant weight loss
Less Common Symptoms
Less common symptoms of [disease name] include
- Numbness or tingling in hands or feet (carpal tunnel syndrome)
Physical Examination
Laboratory Findings
- In patients with secondary amyloidosis, urinalysis should be routinely examined.[18]
- Laboratory findings consistent with the diagnosis of renal amyloidosis include:[18][6]
- Proteinuria
- 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
- Kidney biopsy can represent amyloid deposition as vascular, tubulo-interstitial and/or glomerular deposits.[19]
- In evaluation of kidney biopsy specimens, types of amyloidogenic proteins can be discovered.[6]
Congo red staining
- All types of amyloidogenic proteins show affinity for Congo red dye, which demonstrates as:[20]
- Orange-red appearance by normal light microscopy
- Apple-green birefringence upon polarized light
Treatment
Medical Therapy
- Pharmacologic medical therapies for Renal amyloidosis include
- Colchicine [21][22][23]
- Azathioprine
- Dimethylsulfoxide[24][25]
- Chlorambucil
- Methotrexate
- Cyclophosphamide [26][27]
- TNF-alpha antagonists (ie, etanercept, infliximab, and adalimumab)[28][29][30][31]
Interventions
Surgery
Primary Prevention
Secondary Prevention
References
- ↑ Kyle RA (June 2011). "Amyloidosis: a brief history". Amyloid. 18 Suppl 1: 6–7. doi:10.3109/13506129.2011.574354001. PMID 21838413.
- ↑ Sipe JD, Cohen AS (June 2000). "Review: history of the amyloid fibril". J. Struct. Biol. 130 (2–3): 88–98. doi:10.1006/jsbi.2000.4221. PMID 10940217.
- ↑ Yamanaka S, Miyazaki Y, Kasai K, Ikeda S, Kiuru-Enari S, Hosoya T (April 2013). "Hereditary renal amyloidosis caused by a heterozygous G654A gelsolin mutation: a report of two cases". Clin Kidney J. 6 (2): 189–93. doi:10.1093/ckj/sft007. PMC 4432447. PMID 26019848.
- ↑ 4.0 4.1 Bilginer Y, Akpolat T, Ozen S (August 2011). "Renal amyloidosis in children". Pediatr. Nephrol. 26 (8): 1215–27. doi:10.1007/s00467-011-1797-x. PMC 3119800. PMID 21360109.
- ↑ 5.0 5.1 5.2 5.3 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 (September 2013). "Renal amyloidosis: origin and clinicopathologic correlations of 474 recent cases". Clin J Am Soc Nephrol. 8 (9): 1515–23. doi:10.2215/CJN.10491012. PMC 3805078. PMID 23704299.
- ↑ 6.0 6.1 6.2 6.3 6.4 6.5 Khalighi MA, Dean Wallace W, Palma-Diaz MF (April 2014). "Amyloid nephropathy". Clin Kidney J. 7 (2): 97–106. doi:10.1093/ckj/sfu021. PMC 4377792. PMID 25852856.
- ↑ 7.0 7.1 7.2 Hajra A, Bandyopadhyay D (2016). "An interesting case of renal amyloidosis". Indian J Nephrol. 26 (6): 467–469. doi:10.4103/0971-4065.177143. PMC 5131391. PMID 27942184.
- ↑ Mahmood S, Palladini G, Sanchorawala V, Wechalekar A (February 2014). "Update on treatment of light chain amyloidosis". Haematologica. 99 (2): 209–21. doi:10.3324/haematol.2013.087619. PMC 3912950. PMID 24497558.
- ↑ 9.0 9.1 Quock TP, Yan T, Chang E, Guthrie S, Broder MS (May 2018). "Epidemiology of AL amyloidosis: a real-world study using US claims data". Blood Adv. 2 (10): 1046–1053. doi:10.1182/bloodadvances.2018016402. PMC 5965052. PMID 29748430.
- ↑ Bollée G, Guery B, Joly D, Snanoudj R, Terrier B, Allouache M, Mercadal L, Peraldi MN, Viron B, Fumeron C, Elie C, Fakhouri F (March 2008). "Presentation and outcome of patients with systemic amyloidosis undergoing dialysis". Clin J Am Soc Nephrol. 3 (2): 375–81. doi:10.2215/CJN.02470607. PMC 2390937. PMID 18184882.
- ↑ 11.0 11.1 Obici L, Raimondi S, Lavatelli F, Bellotti V, Merlini G (October 2009). "Susceptibility to AA amyloidosis in rheumatic diseases: a critical overview". Arthritis Rheum. 61 (10): 1435–40. doi:10.1002/art.24735. PMID 19790131.
- ↑ Booth DR, Booth SE, Gillmore JD, Hawkins PN, Pepys MB (December 1998). "SAA1 alleles as risk factors in reactive systemic AA amyloidosis". Amyloid. 5 (4): 262–5. PMID 10036584.
- ↑ Lohani S, Schuiteman E, Garg L, Yadav D, Zarouk S (2016). "Apolipoprotein C-II Deposition Amyloidosis: A Potential Misdiagnosis as Light Chain Amyloidosis". Case Rep Nephrol. 2016: 8690642. doi:10.1155/2016/8690642. PMC 5093243. PMID 27840752.
- ↑ Kaaroud H, Ben Moussa F, Goucha R, Abderrahim E, Ben Hamida F, Ben Hamida F, Ben Hamida F, Kheder A, Ben Miaz H (May 1999). "Influence of surgery on renal amyloidosis". Kidney Int. 55 (5): 2117–2133. doi:10.1046/j.1523-1755.1999.00455.x. PMID 10231478.
- ↑ Duston MA, Skinner M, Meenan RF, Cohen AS (January 1989). "Sensitivity, specificity, and predictive value of abdominal fat aspiration for the diagnosis of amyloidosis". Arthritis Rheum. 32 (1): 82–5. PMID 2912466.
- ↑ 16.0 16.1 Helin HJ, Korpela MM, Mustonen JT, Pasternack AI (February 1995). "Renal biopsy findings and clinicopathologic correlations in rheumatoid arthritis". Arthritis Rheum. 38 (2): 242–7. PMID 7848315.
- ↑ Triger DR, Joekes AM (January 1973). "Renal amyloidosis--a fourteen-year follow-up". Q. J. Med. 42 (165): 15–40. PMID 4688790.
- ↑ 18.0 18.1 Bilginer Y, Akpolat T, Ozen S (August 2011). "Renal amyloidosis in children". Pediatr. Nephrol. 26 (8): 1215–27. doi:10.1007/s00467-011-1797-x. PMC 3119800. PMID 21360109.
- ↑ von Hutten H, Mihatsch M, Lobeck H, Rudolph B, Eriksson M, Röcken C (August 2009). "Prevalence and origin of amyloid in kidney biopsies". Am. J. Surg. Pathol. 33 (8): 1198–205. doi:10.1097/PAS.0b013e3181abdfa7. PMID 19561448.
- ↑ Khalighi MA, Dean Wallace W, Palma-Diaz MF (April 2014). "Amyloid nephropathy". Clin Kidney J. 7 (2): 97–106. doi:10.1093/ckj/sfu021. PMC 4377792. PMID 25852856.
- ↑ Livneh A, Zemer D, Siegal B, Laor A, Sohar E, Pras M (1992). "Colchicine prevents kidney transplant amyloidosis in familial Mediterranean fever". Nephron. 60 (4): 418–22. doi:10.1159/000186801. PMID 1584316.
- ↑ Lidar M, Scherrmann JM, Shinar Y, Chetrit A, Niel E, Gershoni-Baruch R, Langevitz P, Livneh A (February 2004). "Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization". Semin. Arthritis Rheum. 33 (4): 273–82. PMID 14978665.
- ↑ Tan AU, Cohen AH, Levine BS (March 1995). "Renal amyloidosis in a drug abuser". J. Am. Soc. Nephrol. 5 (9): 1653–8. PMID 7780053.
- ↑ Iwakiri R, Sakemi T, Fujimoto K (October 1999). "Dimethylsulfoxide for renal dysfunction caused by systemic amyloidosis complicating Crohn's disease". Gastroenterology. 117 (4): 1031–2. PMID 10576978.
- ↑ Amemori S, Iwakiri R, Endo H, Ootani A, Ogata S, Noda T, Tsunada S, Sakata H, Matsunaga H, Mizuguchi M, Ikeda Y, Fujimoto K (May 2006). "Oral dimethyl sulfoxide for systemic amyloid A amyloidosis complication in chronic inflammatory disease: a retrospective patient chart review". J. Gastroenterol. 41 (5): 444–9. doi:10.1007/s00535-006-1792-3. PMID 16799886.
- ↑ Chevrel G, Jenvrin C, McGregor B, Miossec P (July 2001). "Renal type AA amyloidosis associated with rheumatoid arthritis: a cohort study showing improved survival on treatment with pulse cyclophosphamide". Rheumatology (Oxford). 40 (7): 821–5. PMID 11477289.
- ↑ Nakamura T, Yamamura Y, Tomoda K, Tsukano M, Shono M, Baba S (December 2003). "Efficacy of cyclophosphamide combined with prednisolone in patients with AA amyloidosis secondary to rheumatoid arthritis". Clin. Rheumatol. 22 (6): 371–5. doi:10.1007/s10067-003-0763-9. PMID 14677008.
- ↑ Gottenberg JE, Merle-Vincent F, Bentaberry F, Allanore Y, Berenbaum F, Fautrel B, Combe B, Durbach A, Sibilia J, Dougados M, Mariette X (July 2003). "Anti-tumor necrosis factor alpha therapy in fifteen patients with AA amyloidosis secondary to inflammatory arthritides: a followup report of tolerability and efficacy". Arthritis Rheum. 48 (7): 2019–24. doi:10.1002/art.11163. PMID 12847696.
- ↑ 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 (May 2005). "Treatment of rheumatic inflammatory disease in 25 patients with secondary amyloidosis using tumor necrosis factor alpha antagonists". Am. J. Med. 118 (5): 552–6. doi:10.1016/j.amjmed.2005.01.028. PMID 15866260.
- ↑ Nakamura T, Higashi S, Tomoda K, Tsukano M, Shono M (December 2010). "Etanercept can induce resolution of renal deterioration in patients with amyloid A amyloidosis secondary to rheumatoid arthritis". Clin. Rheumatol. 29 (12): 1395–401. doi:10.1007/s10067-010-1469-4. PMID 20440529.
- ↑ Keersmaekers T, Claes K, Kuypers DR, de Vlam K, Verschueren P, Westhovens R (May 2009). "Long-term efficacy of infliximab treatment for AA-amyloidosis secondary to chronic inflammatory arthritis". Ann. Rheum. Dis. 68 (5): 759–61. doi:10.1136/ard.2008.095505. PMID 19366896.
- ↑ 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 (May 2002). "Targeted pharmacological depletion of serum amyloid P component for treatment of human amyloidosis". Nature. 417 (6886): 254–9. doi:10.1038/417254a. PMID 12015594.
- ↑ Gillmore JD, Tennent GA, Hutchinson WL, Gallimore JR, Lachmann HJ, Goodman HJ, Offer M, Millar DJ, Petrie A, Hawkins PN, Pepys MB (March 2010). "Sustained pharmacological depletion of serum amyloid P component in patients with systemic amyloidosis". Br. J. Haematol. 148 (5): 760–7. doi:10.1111/j.1365-2141.2009.08036.x. PMID 20064157.