家族性アミロイドポリニューロパチー
WordNet
- relating to or having the characteristics of a family; "children of the same familial background"; "familial aggregation"
- occurring among members of a family usually by heredity; "an inherited disease"; "familial traits"; "genetically transmitted features" (同)genetic, hereditary, inherited, transmitted, transmissible
- (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
PrepTutorEJDIC
- 家族の,家族特有の / 違伝的な,血統にあらわれる
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/09/08 21:47:22」(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. doi:10.1093/brain/75.3.408. PMID 12978172.
- ^ Kelly JW (February 1996). "Alternative conformations of amyloidogenic proteins govern their behavior". Curr. Opin. Struct. Biol. 6 (1): 11–7. doi:10.1016/S0959-440X(96)80089-3. PMID 8696966.
- ^ Dobson CM (December 2003). "Protein folding and misfolding". Nature. 426 (6968): 884–90. doi:10.1038/nature02261. PMID 14685248.
- ^ Ghoshdastider U, Popp D, Burtnick LD, Robinson RC (2013). "The expanding superfamily of gelsolin homology domain proteins". Cytoskeleton (Hoboken). 70 (11): 775–95. doi:10.1002/cm.21149. PMID 24155256.
- ^ 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. doi:10.1097/01.md.0000232559.22098.c3. PMID 16862048.
- ^ "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. doi:10.1016/s0161-6420(96)30560-5. PMID 8684801.
- ^ "ATTR Famililial Amyloidosis". BU – Amyloid Treatment & Research Program.
- ^ 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. doi:10.1126/science.1079589. PMID 12560553.
- ^ 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
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- Efficiency of silencing RNA for removal of transthyretin V30M in a TTR leptomeningeal animal model.
- Gonçalves P1, Martins H1, Costelha S1, Maia LF1,2, Saraiva MJ1.
- Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.Amyloid.2016 Dec;23(4):249-253. Epub 2016 Nov 24.
- Some TTR mutants target the central nervous system (CNS). Familial amyloid polyneuropathy (FAP) with leptomeningeal involvement has been described in 9% of transthyretin (TTR) mutations and in valine for methionine at position 30 (V30M) patients. These individuals present dementia, ataxia, brain hem
- PMID 27884058
- Tafamidis in hereditary ATTR amyloidosis - our experience on monitoring the ocular manifestations.
- Casal I1, Monteiro S1, Beirão JM1,2.
- Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis.Amyloid.2016 Dec;23(4):262-263. Epub 2016 Oct 17.
- PMID 27748624
- Review of the literature: Articles published in the last five years that have changed my daily practice.
- Delmont E1.
- Revue neurologique.Rev Neurol (Paris).2016 Dec;172(12):785-787. doi: 10.1016/j.neurol.2016.05.007. Epub 2016 Nov 17.
- Over the last five years, the management of peripheral neuropathies has become structured by the publication of recognized diagnostic criteria for inflammatory neuropathies and the elaboration of a function score, the R-ODS, used to evaluate the progression of these neuropathies. The concept of nodo
- PMID 27866733
Related Pictures
★リンクテーブル★
[★]
- 関
- family、family member、household、kindred
[★]
アミロイド
- 関
- amyloid fibril、amyloid protein