
famili amyloid neuropathy

autosomal aadipathyamulla rogangalude oru apoorva grouppaanu familial amyloid neuropathy (allengil familial amyloidotic neuropathy, neuropathic heredophamilial amyloidosis, familial amyloid poolii neuropathy), athil autoonoomik naadeevyavasthayum koodaathe/allengil mattu njarambukalum protein aggregation koodaathe/allengil amyloid fibril roopeekaranavum moolam apaharikkappedunnu.
vargeekaranam.
oru mungamiyaaya protein samaaharikkunnath peripheral neuropathy koodaathe/allengil autoonoomik naadeevyavasthayude pravarthanarahithathayilekku nayikkunnu. eee proteinukalil iva ulppedunnu traanstairettin (ettavum saadhaaranayaayi ulppettirikkunna protein), apolypoprotein eiii 1, jelsolin.
mattu tharatthilulla familial neuropathy rogangalude apoorvvatha kaaranam, traanstairettin amyloidogenesis-anubandha polyneuropathy orupakshe aadyam pariganikkanam.
"phapp-aii", "phapp-aii" enniva traanstairettinumaayi bandhappettirikkunnu. (senail systemic amyloidosis [churukkatthil "ezz. ezz. eiii"] transthairettin agrageshanumaayi bandhappettirikkunnu.)
"phapp-IIIi" "ayowa-type" ennum ariyappedunnu, athil apolypoprotein eiii 1 ulppedunnu.
"phapp-aivi" "finnish-type" ennum ariyappedunnu, athil jelsolin ulppedunnu.
fibrinogen, apolypoprotein eiii1, lysogyme enniva familial visaral amyloidosis enna adutha bandhamullah avasthayumaayi bandhappettirikkunnu.
rakthaparisodhana, avayava biopsykal, tissue biopsykal ennivayiloodeyaanu roganirnayam sthireekarikkunnathu. tii. tii. aarr. jeenil oru mutation sthireekarikkaan janithaka parisodhanayum upayogikkaam. haattar jeane mutation ulla chila aalukalkk rogalakshanangal anubhavappedanamennilla.
chikitsa.
wall30mettu mutation kaaranam aatru familial amyloidosisinu karal maattivaykkal phalapradamaanennu theliyikkappettittund.
2011ll europian medisins ejansi eee avasthaykku thafaamidisine amgeekarichu. klinikkal trial daatta oru pravarthanakshamamaaya anthima pooyintine adisthaanamaakki falaprapti kaanikkunnillennathinte adisthaanathil 2012 ll usil maarkkatting amgeekaarathinulla apeksha fda nirasikkukayum fda kooduthal klinikkal pareekshanangal abhyarthikkukayum cheythu.

