
systenosis

systenosis haah eka lysosomal sathavan rog aahe, joou systeinchya asamanya sanchayadvare darshavila jaato, joou amino acid systeincha oxidised diamer aahe. haah eka anuvanshik vikar aahe joou autosomal recessive inheritance patternche anusaran karato. haah eka durmil autosomal recessive vikar aahe joou lysosomesmadhye mukt cysteine jamaa jhalyamule hoto, jyamule akheris sampoorn sharirat intracellular chrystal tayar hote. balrogatadnyanchya vayogatatil fanconi syndromeche systenosis heey sarvat samanya kaaran aahe. jevha mutrapindachya nalikanmadhil peshinche karya bighadalele asate, jyamule mutrat carbohydrates aanee amino acidche asamanya praman, jaast laghvi aanee potassium aanee phosphatechi raktatil patali qamee hote, tevha fanconi syndrome hoto.
systenosis haah lysosomal sathavan rog vikaranchya gatashi sambandhit pahila dastaivajikrut anuvanshik rog hota. systenosis haah systeinsathi lysosomal membrain-vishisht vahak systenosinesathi code karananya "ctns" janukatil utparivartananmule hoto. systeinche antahkoshik chayapachay, jase serve amino aamlanmadhye hote, tase peshi patalavar tyache parivahan aavashyak asate. lysosomeschya aat endocytos prathin systeinmadhye ksheen jhalyanantar, teey samanyatah cytosolmadhye vahoon nele jaate. parantu vahak prathinanmadhye dosh asalyas, cysteine lysosomesmadhye jamaa hote. cysteine atyant aghulansheel asalyane, jevha uutinchya lysosomesmadhye tyache praman vadhate, tevha tyachi vidravyata lagech olandali jaate aanee jawaljawal serve avyav aanee uutinmadhye sfatikeey avkshep tayar hotat.
tathapi, rogachi pragati lakshyit uutinmadhil sfatikanchya upasthitishi sambandhit nahee. jaree uutinche nuksan cysteine sanchayanavar avalambun asale taree uutinchya hanichi yantrana purnapane samajali jaat nahee. intracellular systeinmadhye vaadh jhalyamule cellular oxidative chayapachay aanee glutathionchya sthiteet kholvar vyatyay yeto, jyamule mitochondrial urja chayapachay, autofaggy aanee apoptosismadhye badal hoto.
sistinosisavar sahasa systemine upchar kele jaatat, jeey intralysosomal cysteine sanchay qamee karnyasathi vihit kele jaate. tathapi, naveen rogkarak yantranecha shodh aanee rogache prani model vikasit jhalyamule dirghakalin purvasoochana sudharanyasathi naveen upchar paddhatinchya vikasasathi shakyata khulya houu shakatat.
lakshane.
systenosische teen vegvegale prakar aahet, jyapaiki pratyeki thodi vegali lakshane aaheth nephropathic systenosis, intermigiate systenosis aanee naun-nephropathic kinwa aucular systenosis. nephropathic systenosisne prabhavit jhalelya arbhakanmadhye suruvatila kharab vaadh aanee mutrapindachya vishisht samasya (kadhikadhi mootrapind fanconi syndrome mhanatat) disun yetat. mutrapindachya samasyanmule mahattvachi khanije, kshar, drav aanee itar poshak tatvanchi haanee hote. poshak tatvanchi haanee keval vadhisach adthala aanat nahee tarr parinami mauu, vakaleli hadey (hypophosphatemic rickets) houu shakatat, visheshtah payanmadhye. shariratil poshak asantulanamule laghvi, tahan, nirjalikaran aanee asamanyapane amleey rakt (acidosis) vadhate. 
vayachya donavya varshaparyant, cysteine chrystals dekhil parpatlyamadhye asoo shakatat. dolhyamadhye yaa sfatikanchya nirmitimule prakashachi sanvedansheelata vadhate (photophobia). upcharavina, systenosis asalelya mulanna vayachya dahavya varshaparyant mootrapind purnapane nikami honyachi shakyata asate. upcharanmule heey rugnanchya kishoravayin kinwa 20 chya dashakat vilambit houu shakate. rugnanmadhye udbhavu shakanari itar chinhe aanee lakshananmadhye snayu bighadane, andhatva, gilanyas asamarthata, gham yene, cases aanee tvacheche rangdravya qamee hone, madhumeh aanee thyroid aanee majjasansthetil samasya yancha samavesh hoto.
madhyavarti systenosischi chinhe aanee lakshane nephropathic systeinosisarkhich asatat, parantu tee nantarchya vayat udbhavtat. madhyavarti systenosis samanyatah baaraa teey pandhra varshanchya aaspaschya vyaktinvar parinam karoo lagato. mootrapind aanee parpatalichi chrystals hii yaa vikarachi mukhya prarambhik vaishishtye aahet. jarr madhyavarti sistinosisavar upchar naan kelyas, mootrapind purnapane nikami hoil, parantu sahasa kishoravayin vayapasoon teey visavya dashakachya madhyaparyant nahee.
naun-nephropathic kinwa aucular systenosis asalelya lokanna sahasa vadhit bighad kinwa mutrapindatil bighad anubhavat nahee. corneamadhil cysteine chrystalsamule honara photophobia heey ekmev lakshan aahe.
sphatik aakarvidnyan aanee olakh.
cysteine chrystals heey shatkon aakarache asatat aanee rangheen asatat. tyanchya uchch vidravyatemule teey kshariy mutrat sahasa aadhalat naheet. rangheen sfatikanna, shatkon asalelya euric acid sphatikanpasun vegale karane katheen asoo shakate. dhruvikrut tapasani antargat, dhruvikaran rung hastakshepasah sphatik dvi-seema aahet.
anuvanshiki.
systenosis haah gunasutra 17 varr sthit see. tii. aine. janukatil utparivartanamule hoto, joou systenosine, lysosomal cysteine transportersathi code karato. lakshane pratham vayachya 3 teey 18 mahinyant khol polyuria (jaast laghvi), tyanantar kharab vaadh, photophobia aanee akheris mootrapind nikami hone heey nephropathic swarupat vayachya 6 varshanparyant disun yetat.
systenosische serve prakar (nephropathic, kishore aanee netra) autosomal recessive asatat, jyacha arth assa aahe qee heey vaishishtya autosomal gunasutravar sthit aahe aanee jyaa vyaktila janukanchya done pratee varshane midatat-donhi palkankadun eka-tyannach haah vikar hoil. jevha donhi palak autosomal recessive vaishishtyache vahak asatat, tevha yaa vikarane grast mool honyacha 25 takke dhoka asato.
systenosis 100,000 teey 200,000 navjat mulanpaiki andaje 1 laa prabhavit karato. aanee jagaat systenosis asalelya keval sumare 2,000 dnyat vyakti aahet. francemadhil britney prantat yaa aajarache praman jaast aahe, jithe haah vikar 26,000 paiki 1 vyaktila prabhavit karato.
nidan.
systenosis haah eka durmil anuvanshik vikar aahe jyamule peshinmadhye amino acid cysteine jamaa hote, jyamule chrystals tayar hotat jeey peshinchi nirmiti karoo shakatat aanee nuksan karoo shakatat. hii sphatike shariratil anek pranalinvar, visheshtah mutrapinde aanee dolhyanvar nakaratmak parinam karatat.
lysosomsmadhun systeinchya asamanya vahatukimule heey sanchay hote, parinami uutinmadhye mothya pramanat intra-lysosomal cysteine jamaa hote. adyap adnyat yantranedvare, lysosomal cysteine apoptosisla asha prakare vadhavate aanee badalate qee peshi ayogyaritya martat, jyamule mutrapindachya epithelial peshi nasht hotat. yamule mootrapind fanconi syndrome hoto aanee itar uutinmadhil ashach prakarchi haanee hii qamee unchi, drushtipatalvikruti aanee rogachi itar vaishishtye hyasathi karanibhoot tharoo shakate.
tandam maas spectrometrycha vapar karoon pandhya raktpeshinchya cysteine pataliche mapan karoon nishchit nidan aanee upcharanche nirikshan kele jaate.
upchar.
sistinosisavar samanyatah systemine upchar kele jaatat, jeey capsulemadhye aanee dolhyanchya thembanmadhye upalabdh asate. systenosis asalelya lokanna anekada raktatil aamlata, tasech potassium aanee phosphorus purak tasech itaranvar upchar karnyasathi soodiyam citrate dekhil dile jaate. mootrapind lakshaniyaritya bighadalele kinwa apayashi tharalyas, mootrapind pratyaropanaparyant aanee tyasah satat tikoon rahnyasathi upchar suru karane aavashyak aahe.