アミロイド・リニューロパチー、アミロイド多発ニューロパチー、アミロイド多発神経障害
- 関
- amyloid neuropathy
WordNet
- (pathology) a waxy translucent complex protein resembling starch that results from degeneration of tissue
- a non-nitrogenous food substance consisting chiefly of starch; any substance resembling starch
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/08/19 12:03:40」(JST)
[Wiki en表示]
| Familial amyloid neuropathy |
| Classification and external resources |
| Specialty |
endocrinology |
| ICD-10 |
E85.1 |
| ICD-9-CM |
277.3 |
| MeSH |
D028227 |
|
[edit on Wikidata]
|
The familial amyloid neuropathies (or familial amyloidotic neuropathies, neuropathic heredofamilial amyloidosis, familial amyloid polyneuropathy) are a rare group of autosomal dominant diseases wherein the autonomic nervous system and/or other nerves are compromised by protein aggregation and/or amyloid fibril formation.[1][2][3]
Contents
- 1 Classification
- 2 Treatment
- 3 References
- 4 External links
Classification
The aggregation of one precursor protein leads to peripheral neuropathy and/or autonomic nervous system dysfunction. These proteins include: transthyretin (ATTR, the most commonly implicated protein), apolipoprotein A1, and gelsolin.[4]
Due to the rareness of the other types of familial neuropathies, transthyretin amyloidogenesis-associated polyneuropathy should probably be considered first.[5]
"FAP-I" and "FAP-II" are associated with transthyretin.[1][6] (Senile systemic amyloidosis is also associated with transthyretin aggregation.)
"FAP-III" is also known as "Iowa-type", and involves apolipoprotein A1.[7]
"FAP-IV" is also known as "Finnish-type", and involves gelsolin.[8]
Fibrinogen, apolipoprotein A1, and lysozyme are associated with a closely related condition, familial visceral amyloidosis.
Treatment
Liver transplantation has proven to be effective for ATTR familial amyloidosis due to Val30Met mutation.[9]
Alternatively, a European Medicines Agency approved drug Tafamidis or Vyndaqel now exists which stabilizes transthyretin tetramers comprising wild type and different mutant subunits against amyloidogenesis halting the progression of peripheral neuropathy and autonomic nervous system dysfunction.[10]
Currently there are two ongoing clinical trials undergoing recruitment in the United States and worldwide to evaluate investigational medicines that could possibly treat TTR.[11][12]
References
- ^ a b Andrade C (September 1952). "A peculiar form of peripheral neuropathy; familiar atypical generalized amyloidosis with special involvement of the peripheral nerves". Brain. 75 (3): 408–27. PMID 12978172. doi:10.1093/brain/75.3.408.
- ^ Kelly JW (February 1996). "Alternative conformations of amyloidogenic proteins govern their behavior". Curr. Opin. Struct. Biol. 6 (1): 11–7. PMID 8696966. doi:10.1016/S0959-440X(96)80089-3.
- ^ Dobson CM (December 2003). "Protein folding and misfolding". Nature. 426 (6968): 884–90. PMID 14685248. doi:10.1038/nature02261.
- ^ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton (Hoboken). 70 (11): 775–95. PMID 24155256. doi:10.1002/cm.21149.
- ^ Delahaye N, Rouzet F, Sarda L, et al. (July 2006). "Impact of liver transplantation on cardiac autonomic denervation in familial amyloid polyneuropathy". Medicine (Baltimore). 85 (4): 229–38. PMID 16862048. doi:10.1097/01.md.0000232559.22098.c3.
- ^ "Amyloid".
- ^ "Amyloid".
- ^ Akiya S, Nishio Y, Ibi K, et al. (July 1996). "Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV". Ophthalmology. 103 (7): 1106–10. PMID 8684801. doi:10.1016/s0161-6420(96)30560-5.
- ^ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program. Archived from the original on 2008-07-06.
- ^ Hammarström P, Wiseman RL, Powers ET, Kelly JW (January 2003). "Prevention of transthyretin amyloid disease by changing protein misfolding energetics". Science. 299 (5607): 713–6. PMID 12560553. doi:10.1126/science.1079589.
- ^ https://clinicaltrials.gov/ct2/show/NCT01960348
- ^ http://apollotrial.com/
External links
- Reference centre for familial amyloid polyneuropathy
- World wide clinical trial for the evaluation of an investigational medicine for the possible treatment of Familial Amyloidotic Polyneuropathy (FAP
UpToDate Contents
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English Journal
- Inhibition of human transthyretin aggregation by non-steroidal anti-inflammatory compounds: a structural and thermodynamic analysis.
- Sant'anna RO, Braga CA, Polikarpov I, Ventura S, Lima LM, Foguel D.SourceInstitute of Medical Biochemistry, Structural Biology Program, Federal University of Rio de Janeiro, Rio de Janeiro, RJ 21941-590, Brazil. foguel@bioqmed.ufrj.br.
- International journal of molecular sciences.Int J Mol Sci.2013 Mar 6;14(3):5284-311. doi: 10.3390/ijms14035284.
- Transthyretin (TTR) is a homotetrameric protein that circulates in plasma and cerebral spinal fluid (CSF) whose aggregation into amyloid fibrils has been associated with at least two different amyloid diseases: senile systemic amyloidosis (SSA) and familial amyloid polyneuropathy (FAP). In SSA aggre
- PMID 23466880
- NORTH AMERICA AND SOUTH AMERICA (NA-SA) NEUROPATHY PROJECT.
- Pasnoor M, Nascimento O, Trivedi J, Wolfe G, Nations S, Herbelin L, Freitas M, Quintanilha G, Khan S, Dimachkie M, Barohn R.Source1University of Kansas Medical Center , Kansas City , KS.
- The International journal of neuroscience.Int J Neurosci.2013 Mar 6. [Epub ahead of print]
- Abstract Peripheral neuropathy is a common neurological disorder. There may be important differences and similarities in the diagnosis of peripheral neuropathy between North America (NA) and South America (SA). Neuromuscular databases were searched for neuropathy diagnosis at two North American site
- PMID 23461611
- Comparison Between 99mTc-Diphosphonate Imaging and MRI With Late Gadolinium Enhancement in Evaluating Cardiac Involvement in Patients With Transthyretin Familial Amyloid Polyneuropathy.
- Minutoli F, Di Bella G, Mazzeo A, Donato R, Russo M, Scribano E, Baldari S.SourceDepartment of Radiological Sciences, University of Messina, Consolare Valeria 1, Messina 98100, Italy.
- AJR. American journal of roentgenology.AJR Am J Roentgenol.2013 Mar;200(3):W256-65. doi: 10.2214/AJR.12.8737.
- OBJECTIVE: Cardiac involvement is not rare in systemic amyloidosis and is associated with poor prognosis. Both (99m)Tc-diphosphonate imaging and cardiac MRI with late gadolinium enhancement are considered valuable tools in revealing amyloid deposition in the myocardium; however, to our knowledge, no
- PMID 23436870
Japanese Journal
- 症例報告 家族性アミロイドポリニューロパチーの1孤発例に対するタファミジスの使用経験
- 日本老年医学会雑誌 = Japanese journal of geriatrics 54(1), 75-80, 2017-01
- NAID 40021095225
- Amyloid Polyneuropathy and Myocardial Amyloidosis 10 Years after Domino Liver Transplantation from a Patient with a <i>Transthyretin</i> Ser50Arg Mutation
Related Links
- Depending on the type of amyloid protein, patients may benefit from liver or bone marrow transplant. Neuropathic pain due to amyloid neuropathy can be treated with anti-seizure medications, antidepressants, or analgesics
- In patients with familial amyloid polyneuropathy (FAP), TTR amyloid deposits cause nerve disease (peripheral and autonomic neuropathy). FAP was first identified as a distinct condition in 1952, when it was described in several ...
- A 64 year-old man of Italian ancestry, with known familial amyloid polyneuropathy, presented for evaluation. The patient was diagnosed by genetic testing 4 years previously while asymptomatic, after his older brother, who ...
★リンクテーブル★
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- 英
- amyloid polyneuropathy
- 関
- アミロイド多発ニューロパチー、アミロイド神経障害、アミロイド・リニューロパチー
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- 英
- amyloid polyneuropathy
- 関
- アミロイド多発神経障害、アミロイド多発ニューロパチー
[★]
- 英
- amyloid polyneuropathy
- 関
- アミロイド多発神経障害、アミロイド・リニューロパチー
[★]
家族性アミロイドポリニューロパチー
[★]
アミロイド
- 関
- amyloid fibril、amyloid protein