Boemo bo tloaelehileng ba liphatsa tsa lefutso boo boholo ba bona bo amang banna
Mefuta ea Mucopolysaccharidosis II (MPS II), e tsejoang hape e le lefu la Hunter, ke lefu le futsitsoeng le etsang hore enzyme iduronate-2-sulfatase (I2S) e fokola. I2S e ameha ho senyeha ha lik'habohaedreite tse rarahaneng tse bitsoang mucopolysaccharides. Kantle ho I2S e lekaneng, likaroloana tse senyehileng tsa mucopolysaccharides li bokella litho le likarolo tsa 'mele ebe li fetoha chefo.
Sesosa sa Hunter ke boloetse bo amanang le X , bo bolelang hore bo fetisetsoa ho X chromosome ho tloha ho 'mè ho ea ho bana ba hae. Ka lebaka la hore na lefu la Hunter le futsitsoe joang, boemo bo atile haholo ho banna-le hoja basali, maemong a sa tloaelehang, ba ka rua boemo bona le bona. Boloetse ba ho tsuba bo ka hlahella molokong ofe kapa ofe oa morabe. Liketsahalo tse phahameng haholo li hlokometsoe har'a batho ba Bajuda ba lulang Iseraele. Boemo bo etsahala ho 1 ho 100,000 ho isa ho 1 ho banna ba 150 000.
Ho na le mefuta e 'meli ea lefu la Hunter-mathoasong a mathoasong le morao.
Pele-onset MPS II
Sebopeho se matla sa lefu la Hunter, ho qala-pele, hangata se fumanoa ho bana ba likhoeli tse 18 ho isa ho tse 36. Tšepo ea bophelo ea foromo ena e ka fapana, le bana ba bang ba phelang ho fihlela lilemo tsa bobeli le tsa boraro tsa bophelo. Matšoao a ho qala ha mafu a ka 'na a kenyelletsa:
- litšobotsi tsa sefahleho tse majabajaba le sekhahla se khutšoanyane
- sebete se atolositsoeng le spleen
- ho lieha ha kelello le ho feta
- litlolo tsa moriri oa manaka oa tlou tse ka holimo le mahlakoreng a matsoho le mahetleng a ka holimo
- liphetoho tsa masapo, boima bo kopantsoeng, molaleng o mofubelu, sefubeng se seholo, hape le-hlooho e kholo
- ho tsoela pele ho sa utloe litsebeng
- atypical retinitis pigmentosa le ho se bone hantle
Matšoao ana a tšoana le a Hurler syndrome . Leha ho le joalo, matšoao a lefu la Hurler a qala ka potlako 'me a mpe ho feta a matšoao a pele a ho qala ha Hunter.
MPS ea morao-rao II
Mofuta ona oa lefu la Hunter o boima ho feta pele ho nako 'me o ka' na oa se ke oa fumanoa ho fihlela motho e moholo. Batho ba nang le mofuta o fokolang oa lefu lena ba na le nako e telele ea bophelo 'me ba ka phela lilemong tsa bo-70. Lintho tsa bona tsa 'mele li tšoana le tse nang le MPS e matla II; Leha ho le joalo, batho ba nang le phetoho ea MPS II ba atisa ho ba le tsebo e tloaelehileng 'me ba haelloa ke mathata a matla a marapo a mofuta o matla haholo.
Tsejoa
Bakeng sa lefu le matla la Hunter, ponahalo ea ngoana e kopantsoe le matšoao a mang a kang sebete e atolositsoeng le spleen le letlalo la moriri oa lenaka la tlou (le nkoang e le letšoao la lefu lena) le ka fana ka tlhahiso ea hore ngoana o na le mucopolysaccharidosis. Matšoao a bonolo a Hunter a thatafalloa haholo ho lemoha, 'me a ka hlokomeloa feela ha a shebile beng ka bona ba lesea le nang le lefu la Hunter.
Ka mofuta ofe kapa ofe, lefu lena le ka fumanoa ka teko ea mali bakeng sa ho haella ha I2S. Thuto ea enzyme kapa tlhahlobo ea liphatsa tsa lefutso bakeng sa liphetoho liphatsa tsa lefutso tsa iduronate sulfatase li ka boela tsa hlokomela boemo. Mucopolysaccharides e ka 'na ea boela ea e-ba teng ka morong. X-rays e ka senola bone liphetoho tsa bone tse tšoaneng le lefu la Hunter.
Ho phekola MPS II
Hajoale, ha ho na pheko ea lefu la Hunter.
Tlhokomelo ea meriana e lebisitsoe ho fokotsa matšoao a MPS II. Kalafo e nang le Elaprase (idursulfase) e nkela I2S sebaka 'meleng' me e thusa ho fokotsa matšoao le bohloko. Tsela ea ho phefumoloha e ka 'na ea sitisoa, kahoo tlhokomelo e ntle ea ho phefumoloha le tlhokomelo ke tsa bohlokoa. Phekolo ea 'mele le boikoetliso ba letsatsi le letsatsi ke ba bohlokoa. Litsebi tse ngata li ameha tlhokomelong ea motho ea nang le lefu la Hunter. Moeletsi oa liphatsa tsa lefutso a ka eletsa lelapa le beng ka eena ka likotsi tsa ho fetisetsa lefu lena.
Lisebelisoa:
MPS II (MPA ea Hunter) MPS le Mafu a Amanang. Mokhatlo oa Sechaba oa MPS.
Reference Reference Home. Mucopolysaccharidosis mofuta oa II.