Chirwere Chirwere Chizhinji Chinowanzokonzera Varume
Mucopolysaccharidosis type II (MPS II), iyo inozivikanwawo seHunter syndrome, inorwara yakazvarwa nhaka inokonzera kukwana kweyerosi iduronate-2-sulfatase (I2S). I2S inobatanidzwa mukudengenyeka kweakabhahydrates anonzi mucopolysaccharides. Pasina I2S yakakwana, chikamu chakavhuniwa-mucamolysaccharides inounganidza munhengo uye maviri emuviri uye anova chepfu.
Hunter syndrome chirwere chinonzi X-linked , zvinoreva kuti chinoparadzirwa pane X chromosome kubva kuna amai kuenda kuvana vavo. Nemhaka yekuti hunter syndrome inotora nhaka sei, mamiriro acho ezvinhu anowanzoonekwa nevarume-kunyange vakadzi, muzviitiko zvisingawanzoiti, vanogona kugara nhaka mamiriro avo zvakare. Hunter syndrome inogona kuitika mumarudzi ose emadzinza. Chiitiko chepamusoro zvishoma chakave chakaonekwa pakati pevaJudha vanogara muIsrael. Mamiriro acho ezvinhu anowanikwa mune 1 mu100,000 kusvika kune 1 mu 150,000 varume.
Kune marudzi maviri eHunter syndrome-kutanga-kutanga uye nguva.
Kutanga-Kutanga MPS II
Nzira yakasimba yeHunter syndrome, kutanga-kutanga, inowanzoonekwa mune vana vane makore 18 kusvika ku36. Upenyu huripo hwemufomu uyu hunogona kusiyana, nevamwe vana vanorarama kusvika kumakore makumi maviri nematatu ehupenyu. Zviratidzo zvekutanga-kutanga chirwere zvinogona kusanganisira:
- zviso zviso zvemaoko uye nguva shoma
- kuwedzera chiropa uye spleen
- kufambira mberi uye kukanganisika mupfungwa mupfungwa
- nyora dzemvere dzenyanga dzenyanga dzenzou kumucheto wekumusoro uye kumativi emakumbo nepamakumbo
- skeletal change, kuoma kwekubatana, shingo yakafukidzika, chifukidzo chakafara, uyewo-musoro mukuru
- kufambira mberi matsi
- atypical retinitis pigmentosa uye kutadza kuona
Zviratidzo izvi zvakafanana neyeHurler syndrome . Zvisinei, zviratidzo zveHurler syndrome zvinokurumidza uye zvinowedzera kudarika izvo zvekutanga-kutanga Hunter syndrome.
Pasika MPS II
Rudzi urwu rweHunter syndrome rwakanyanya kuoma kupfuura kutanga-kutanga uye harungarangarirwi kusvikira munhu mukuru. Vanhu vane chimiro chekupedzisira chechirwere vane tarisiro yakareba yehupenyu uye vanogona kugara mumakore avo makumi manomwe. Zvisikwa zvavo zvakafanana kune avo vane MPS yakaoma II; zvisinei, vanhu vane chirongwa chekupedzisira cheMPS II vanowanzova nehunyanzvi hwemagetsi uye varikushayikana nematambudziko akakomberedzwa evanhu vane chirwere chakanyanya.
Kuziva
Nokuda kweHurter syndrome yakanyanya, kuonekwa kwomwana pamwe chete nezvimwe zviratidzo zvakadai sechiropa chakawedzerwa uye chirwere uye maronda emakumbo emakumbo enyanga dzenzou (inoonekwa sechiratidzo chechirwere) zvinogona kuratidza kuti mwana ane mucopolysaccharidosis. Simba Hunter syndrome zvakanyanya kuoma kuziva, uye zvinogona kungoonekwa chete pachitarisa hama dzechizvarwa dzomwana neHunter syndrome.
Mune mhando ipi zvayo, kuongororwa kunogona kusimbiswa nekuongorora ropa nekuda kwekushaya kweI2S. An enzyme kudzidza kana mazita ekuongorora mazita ekuchinja mune iduronate sulfatase gene anogonawo kuongorora mamiriro acho ezvinhu. Mucopolysaccharides inogonawo kuva mumugini. X-rays inogona kuratidza bone kuchinja maitiro eHunter syndrome.
Kurapa MPS II
Iye zvino, hapana mushonga weHunter syndrome.
Kuchengetedzwa kwechiremba kunotungamirirwa kunoderedza zviratidzo zvePPS II. Kurapa neElaprase (idursulfase) inotsiva I2S mumuviri uye inobatsira kuderedza zviratidzo uye kurwadziwa. Iyo inoputira mweya inogona kuvhiringidzwa, saka kunaka kwekufema uye kutarisa kunokosha. Kurapa kwepanyama uye miitiro yezuva nezuva inokosha. Nyanzvi dzakawanda dzinobatanidzwa mukutarisira munhu ane Hunter syndrome. A genetic mazano anogona kupa mazano kumhuri uye hama pamusoro pezvipingamupinyi zvekupfuura chirwere.
Sources:
MPS II (Hunter syndrome) MPS uye Related Diseases. National MPS Society.
Genetics Home Reference. Mucopolysaccharidosis type II.