Isimo Esivamile SamaGenesis esithinta kakhulu abesilisa
Uhlobo lwe-Mucopolysaccharidosis II (MPS II), owaziwa nangokuthi i-Hunter syndrome, yi-disorder ezuzwe njengefa elibangela ukuntuleka kwe-enzyme iduronate-2-sulfatase (I2S). I2S ibandakanyeka ekuqhekekeni kwe-carbohydrate enzima okuthiwa mucopolysaccharides. Ngaphandle kwe-I2S eyanele, i-mucopolysaccharides ephukile kancane iqoqa ezithombeni nasezicukeni zomzimba futhi ibe yingozi.
I-Hunter syndrome i- X-linked disorder , okusho ukuthi idluliselwa kwi- X chromosome evela kumama kuya ezinganeni zayo. Ngenxa yokuthi i-Hunter syndrome izuze njengefa, isimo sivame kakhulu emadodeni-nakuba abesifazane, ezimweni ezingavamile, bangathola ifa lesi simo. I-Hunter syndrome ingenzeka kunoma yiluphi iqembu lobuhlanga. Isigameko esincane kakhulu sitholiwe phakathi kwabantu abangamaJuda abahlala kwa-Israyeli. Lesi simo senzeke ku-1 ku-100,000 kuya ku-1 kumadoda angu-150,000.
Kunezinhlobo ezimbili ze-Hunter syndrome-kuqala-kokuqala nokuphumula.
I-MPS II yokuqala
Uhlobo olunzima lwe-Hunter syndrome, ekuqaleni-ukuqala, luvame ukutholakala ezinganeni ezineminyaka engu-18 kuya kwezingu-36. Ukulindeleka kokuphila kwale fomu kungashintsha, kanti ezinye izingane ziphila kuze kube seminyaka yabo yesibini nesithathu yokuphila. Izimpawu zokugula okuqala ekuqaleni zingafaka:
- izici zobuso ezinamaqabunga kanye nesifushane esifushane
- isibindi esikhulu nesipere
- ukuphuza kwengqondo okuqhubekayo nokujulile
- izilonda zesikhumba zendwangu zendlovu zenyakatho nasemaceleni ezandla ezingaphezulu nasemathangeni
- izinguquko zamathambo, ukuqina okuhlangene, intamo emfushane, isifuba esiphezulu, futhi futhi-ikhanda elikhulu
- izithulu eziqhubekayo
- i-atypical retinitis pigmentosa nokukhubazeka okubukwayo
Lezi zimpawu zifana nezesi-Hurler syndrome . Kodwa-ke, izimpawu ze-Hurler syndrome zikhula ngokushesha futhi zimbi kakhulu kunezingqalasizinda ze-Hunter syndrome.
I-MPS yamuva
Lolu hlobo lwe-Hunter syndrome lukhulu kakhulu kunokuqala kokuqala futhi lungatholakali kuze kube lukhulile. Abantu abanesimo sekwephuzile sesifo banesikhathi eside sokuphila futhi bangaphila kuma-70s. Izici zabo zomzimba zifana nalabo abanePPS II enkulu; Kodwa-ke, abantu abanesimo se-MPS II sekwephuzile ngokuvamile banokuhlakanipha okujwayelekile futhi abanakho izinkinga ezinkulu ze-squelet of the type more severe.
Ukuxilongwa
Ngenxa ye-Hunter syndrome eqinile, ukubukeka kwengane kuhlanganiswe nezinye izimpawu ezifana nesibindi esandisiwe kanye nesilwane kanye nezilonda zesikhumba zendlebe zendlovu (ezibhekwa njengomaka we-syndrome) zingasikisela ukuthi ingane ine-mucopolysaccharidosis. I-Skin Hunter syndrome yinkimbinkimbi kakhulu ukubona, futhi ingabonakala kuphela lapho ibuka izihlobo zomntwana zengane enoHunter syndrome.
Kunoma yiluphi uhlobo, ukuxilongwa kungaqinisekiswa ukuhlolwa kwegazi ngenxa yokuntuleka kwe-I2S. Ucwaningo lwe-enzyme noma ukuhlolwa kofuzo lwezinguquko ezakhiweni ze-iduronate sulfatase lungabuye kuhlolwe isimo. I-Mucopolysaccharides ingase ibe khona emcinini. Ama-X-ray angabonisa ukuguqulwa kwamathambo okuphawulekayo kwe-Hunter syndrome.
Ukwelapha i-MPS II
Njengamanje, alukho ukwelashwa kwe-Hunter syndrome.
Ukunakekelwa kwezokwelapha kuqondiswa ekunciphiseni izimpawu ze-MPS II. Ukwelashwa nge-Elaprase (idursulfase) kuthatha indawo ye-I2S emzimbeni futhi kusiza ukunciphisa izimpawu nobuhlungu. Ipheshana lokuphefumula lingase livinjelwe, ukunakekelwa okuhle nokuphefumula kuhle kakhulu. Ukwelapha umzimba kanye nokuvivinya umzimba nsuku zonke kubalulekile. Ochwepheshe abaningi bahilelekile ekunakekeleni umuntu one-Hunter syndrome. Umeluleki wezofuzo angeluleka umndeni nezihlobo mayelana nezingozi zokudlulisa isifo.
Imithombo:
MPS II (Hunter syndrome) MPS kanye nezifo ezihlobene. I-National MPS Society.
I-Genetics Home Reference. Uhlobo lweMucopolysaccharidosis II.