
cryopyrine-anubandha periodic syndrome

cryopyrine-anubandha periodic syndrome (caps) ennathu interlookkin 1β-madhyastha systemic veekkam, charmmam, sandhikal, kendra nadiviewham, annukal enniva ulppedunna klinikkal lakshanagal ennivayaal savisheshathayulla apoorvavum vaividyamaarnnathumaaya autoinflamettari rogangalude oru koottamaanu. familial colled autoinflamettari syndrome (eph. sii. eiii. ezz, munbu familial colled-induced arttikariya ennu vilikkapettu), mccle-wells syndrome (emm. dablyu. ezz), neonattal-oonsettu multisistom inflammatory disease (nomid, chronic infanttail neurological kattaaniyas aandu articular syndrome allengil sinka ennum vilikkunnu) ennivayulppede moonnu clinically overlapping autoinflamettari syndromecalude spectrum ithil ulppedunnu, avaa yadhaarthathil vyathyasthamaaya gadakangalaayi kanakkaakkappettirunnu, ennaal vaasthavathil orotta janithaka parivartthanavum rogakariyaaya pathayum pankidunnu, koodaathe autoinflamettari lakshanagal kanninte munbhaagathe maathram badhikkunna keratoendothelitis fugax heriditeriya.
adayaalangalum lakshanangalum.
cappukalkkullile syndromes klinikkal aayi ovarlaappu cheiyunnu, koodaathe rogikalkku onniladhikam disorderukalude savisheshathakal undakam. 16 rajyangalil ninnulla vyavasthaapithamaaya pankaalitthamulla 136 caps rogikalude oru munkaala koottatthil, ettavum prachaarathilulla klinikkal savisheshathakal panii (84 sathamaanam kesukal, palappozhum ksheenam, aswasthatha, maanasika vaikalyangal allengil abhivridhippedaathirikku thudangiya oresamayathe bharanaghadanaa lakshanangalullava), charmmatthile paadukal (eurticarial allengil maculopapular raash; 97 sathamaanam kesukal) prathyekichu jaladosham baadhichathinushesham, musculoskelital edapedal (myeljia, arthraljia, koodaathe/allengil sandhivatham, allengil saadhaaranayaayi sandhi, pettellar ovargrothu, asthi vaikalyam, asthi azhukk koodaathe/allengil austioletic murivu; 86 sathamaanam kesukal) aayirunnu. nethrarogatthinte edapedal (kanjankttivittis, koodaathe/allengil yuvaitis, allengil opttik naadi ksheenam, timiram, glocoma allengil kazhcha vaikalyam; 71 sathamaanam kesukal), neurosensory kelvikkuravu (42 sathamaanam kesukal), neurological edapedal (prabhatha thalavedana, papiloedema, koodaathe/allengil meninchaitis, allengil saadhaaranayaayi pidichedukkal, hydrocephalus allengil boudhika vaikalyam; 40 sathamaanam kesukal), aaa amyloidosis (4 sathamaanam kesukal) enniva saadhaaranamallaatha savisheshathakalil ulppedunnu.
keratoendotheliyettis fugax heriditteriyayil, systemic lakshanagal report cheyyappedunnilla, athesamayam rogikalkku cornia endothelium, stroma ennivayude aanukaalika shanikamaaya veekkam anubhavappedunnu, ithu hraswakaala kazhcha mangunnathilekkum aavarthichulla aakramanangalkk sesham chila rogikalil central corneal stromal opaasittikalilekkum nayikkunnu.
aarambikkunna praayam saadhaaranayaayi shaishavathilo kuttikkaalatthilo aanu. 57 sathamaanam kesukalilum, rogalakshanangal mikkavarum ellah divasavum kaanapedunna vittumaaraatha phenotype undaayirunnu, backie 43 sathamaanam rogikalkku theevramaaya episodukal maathrame anubhavappettulloo. 56 sathamaanam rogikalkkum kudumbatthil thoppikalude charithramundennu report cheythu. krithyamaaya report cheytha nirakkukal vyathyaasappedunnunde muun padanangal eee lakshanagal sthireekarikkunnu.
rogakaaranam.
cryopyrine-anubandha periodic syndromes interlookkin 1 inflamesominte pradhana gadakamaaya cryopyrine encoding cheiyunna jeane "enlrp 3" yude exon 3-leeii geyin-oof-function missense mutationumaayi bandhappettirikkunnu. keratoendothelitis fugax heriditteriyayil, exon 1 ll mutation sambhavikkunnu. interlookkin 1 inflamesominte intra sellular roopeekaranam sakthamaaya proo-inflammatory cytokainukal interlookkin 1β, interlookkin-18 enniva caspace 1 ulppedunna oru cascade vazhi sajeevamaakkunnathilekk nayikkunnu. ail-1 inflamesom sajeevamaaya macrophageukalil ninnu purathuvarikayum saitokin ulppaadana cascade vardhippikkukayum cheyyum. enlrp3" yile mutation eee inflamesominte asaadhaaranamaaya roopeekaranathilekkum thudarnnu interlookkin 1β-yude aniyanthrithamaaya ulppaadanathilekkum nayikkunnu.
enlrp3" yill 170 vare bhinnaroopathilulla mutationukal kandethiyittundu. chila reportukal soochippikkunnathu apoorva mutationukal kadinamaaya phenotypeumaayi kooduthal idaykkide bandhappettirikkunnu, chila mutationukal vyathyastha phenodypeukalumaayi bandhappettirikkunnu, ithu vyakthigatha janithaka pashchaathalatthinte pashchaathalatthil inflamesominte pravartthanatthil myootteshante deferential impact prathifalippikkunnu. eee vaikalyangalude anantharaavakaasham variable penetransumaayi autosomal aadipathyamullathaanu.
roganirnayam.
caps valare apoorvavum vishalamaaya klinikkal avatharanamullathumayathinaal, ithu nirnnayikkaan prayaasamaan, koodaathe rogalakshanathinte thudakkathinum krithyamaaya roganirnayathinum idayil ganyamaaya kaalathamasam nilanilkkunnu. klinikkal avatharanathe maathram adisthaanamaakki cappukalkku nilavil klinikkal allengil diagnostic manadandangalonnumilla. pakaram, "enlrp3" mutationukalkkulla janithaka parishodhanayiloodeyaanu roganirnayam nadathunnathu. acute phase reactantukalum vaitt blud cellukalude ennavum saadhaaranayaayi sthiramaayi uyarunnundengilum ithu cappukalkku prathyekamaanu.
chikitsa.
rogathinte rogakaarikalil interlookkin 1β oru pradhana punk vahikkunnathinaal, monoclonal aantibodikal (kanakinambu polullava), binding proteinukal/kenikal (relonasept polullava), allengil interlookkin 1 risapttar athiraalikal (anaakinta polullava) ennivayude roopathil therapy saadhaaranayaayi eee saittokaine lakshyamidunnu. rogalakshanangal laghookarikkunnathinum koshajwalana soochikakalude alavu ganyamaayi kuraykkunnathinum eee chikilsakal pothuve falapradamaanu. thalidomide aanti-ail-6 risapttar antibodiyaaya tossilisumab phalapradamaakumennu cases reportukal soochippikkunnu.