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
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
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.
- ↑ 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 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 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.