Renal amyloidosis overview
|
Renal amyloidosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Template:Renal amyloidosis On the Web |
|
American Roentgen Ray Society Images of Renal amyloidosis overview |
|
Risk calculators and risk factors for Renal amyloidosis overview |
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
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.
- ↑ 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 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.