Umqathango oqhelekileyo wamaGenesis ochaphazela kakhulu abesilisa
I-Mucopolysaccharidosis uhlobo II (MPS II), eyaziwa nangokuthi i-Hunter syndrome, yintlungu ezuze ilifa elibangela ukusilela kwe-enzyme iduronate-2-sulfatase (I2S). I2S ibandakanyeka ekuhlahleni kwe-carbohydrate enzima ebizwa ngokuba yi-mucopolysaccharides. Ngaphandle kwee-I2S ezaneleyo, i-mucopolysaccharides ephukileyo iqokelele kwizitho kunye nezicubu zomzimba kwaye zibe yingozi.
I-Hunter syndrome yi- X-linked-disorder , oku kuthetha ukuba idluliselwa kwi- X chromosome evela kumama eya kubantwana bayo. Ngenxa yokuba i-Hunter syndrome izuze ilifa, imeko ixhaphake kubantu-nangona abafazi, kwiimeko ezinqabileyo, banokufumana ilifa. I-Hunter syndrome inokuvela kunoma yiphina inhlanga. Iziganeko ezincinane ziye zaphawulwa phakathi kwabantu abangamaYuda abahlala kwaSirayeli. Le meko ivela kwi-1 kwi-100,000 ukuya kwi-1 kuma-150,000 amadoda.
Kukho iintlobo ezimbini ze-Hunter syndrome-ekuqaleni kwexesha kunye nokusa.
MPS II
Ifom ephezulu ye-Hunter syndrome, ukuqala kusasa, idla ngohlobo lwezingane ezineminyaka eyi-18 ukuya kwezi-36. Ukulindela ubomi kule fomu kuyahluka, kunye nabanye abantwana bephila kude kube seminyaka yesibini nesithathu yokuphila. Izibonakaliso zezifo zokuqala zisenokuquka:
- Ubume obubonakalayo obubukhali kunye nobukhulu obufutshane
- kwandiswe isibindi kunye nepen
- ukuphuculwa kwengqondo
- izilonda zesikhumba zemihlobiso yendlovu ephezulu kunye nasemacaleni ezandla ezingaphezulu kunye namathanga
- utshintsho lwamathambo, ukuqina okuhlangeneyo, intamo emfutshane, isifuba esiphezulu kunye nentloko enkulu
- sithulu
- kwi-atypical retinitis pigmentosa kunye nokukhubazeka okubonakalayo
Ezi zimpawu zifana nezo zi- Hurler syndrome . Nangona kunjalo, iimpawu ze-Hurler ze-syndrome zikhula ngokukhawuleza kwaye zibi kunokuba zibuhlungu bokuqala kwe-Hunter syndrome.
MPS II
Olu hlobo lwe-Hunter syndrome lukhulu kunokuba lube lukhuni kunokuba luqale kwaye lungenakufunyanwa ukuba lube lukhulile. Abantu abathile abanefom yexesha elidlulileyo banokuhlala ixesha elide kwaye bahlala kwiminyaka yabo-70. Iimpawu zabo zomzimba zifana nalabo abane-MPS enkulu; Nangona kunjalo, abantu abane-version yexesha elidlulileyo ye-MPS II banesicatshulwa esiqhelekileyo kwaye basweleka iingxaki ezibuthakathaka zolu hlobo olunzima kakhulu.
Ukuxilongwa
Ngenxa yobunzima be-Hunter syndrome, ukubukeka komntwana kunye nezinye iimpawu ezifana nesibindi esandisiweyo kunye ne-spleen kunye nezilonda zesikhumba ezinobumba zendlovu (kubonwa njengomakishi we-syndrome) kunokubonisa ukuba umntwana une-mucopolysaccharidosis. I-Skin Hunter syndrome inzima kakhulu ukuyiqonda, kwaye ingaqondwa kuphela xa ikhangele izihlobo zomntwana zomntwana kunye ne-Hunter syndrome.
Kukho na uhlobo, ukuxilongwa kungaqinisekiswa ngophando lwegazi ngenxa yokuntuleka kwe-I2S. Uvavanyo lwe-enzyme okanye uvavanyo lofuzo lwezitshintsho kwi-iduronate sulfatase gene luyakwazi ukuxilonga imeko. I-Mucopolysaccharides ingaba khona kumchamo. I-ray-ray ingabonisa ukutshintsha kwethambo uphawu lwe-Hunter syndrome.
UkuPhatha iPSP II
Okwangoku, akukho nonyango ye-Hunter syndrome.
Unonophelo lwezonyango lujoliswe ekunquseni iimpawu zePalamente II. Unyango nge-Elaprase (idursulfase) ithatha indawo ye-I2S emzimbeni kwaye inokunceda ukunciphisa iimpawu kunye nentlungu. Indlela yokuphefumula ingaba ingavinjelwa, ngokunjalo ukunyamekela nokunyamekela nokubaluleka kubalulekile. Ukwelapha umzimba kunye nokusetyenziswa kwansuku zonke kubalulekile. Iingcali ezininzi zibandakanyeka ekunyamekelweni komntu one-Hunter syndrome. Umcebisi wezofuzo unokucebisa iintsapho kunye neentsapho malunga neengozi zokudlula kwi-syndrome.
Imithombo:
I-MPS II (i-Hunter syndrome) i-MPS kunye neZifo eziHlangeneyo. UMbutho weSizwe weMPS.
I-Reference Reference Home. Uhlobo lweMucopolysaccharidosis II.