Mkhalidwe Wachibadwa Wambiri umene Ambiri Amakhudza Amuna
Mucopolysaccharidosis mtundu wachiwiri (MPS II), wotchedwanso matenda a Hunter, ndi matenda omwe anabadwa nawo omwe amachititsa kusowa kwa enzyme iduronate-2-sulfatase (I2S). I2S ikuphatikizidwa pakuwonongeka kwa chakudya chochuluka chomwe chimatchedwa mucopolysaccharides. Popanda I2S okwanira, mbali yothyoledwa mucopolysaccharides imaphatikiza mu ziwalo ndi ziphuphu za thupi ndikukhala poizoni.
Matenda a Hunter ndi matenda okhudzana ndi X , kutanthauza kuti amafalitsidwa pa X chromosome kuchokera kwa mayi kupita kwa ana ake. Chifukwa cha momwe matenda a Hunter amabadwira, vutoli ndilofala kwa amuna-ngakhale amayi, nthawi zambiri, sangalandire vutoli. Matenda a Hunter amatha kuchitika mumtundu uliwonse. Chiwerengero chapamwamba kwambiri chakhala chikudziwika pakati pa anthu achiyuda omwe akukhala mu Israeli. Matendawa amapezeka m'modzi mwa 100,000 mpaka 1 mwa amuna 150,000.
Pali mitundu iwiri ya matenda a Hunter-kumayambiriro kwa msana ndi mochedwa.
MPS Wachiwiri Yoyamba II
Mavuto aakulu a matenda a Hunter, oyambirira, amayamba kupezeka ana omwe ali ndi zaka 18 mpaka 36. Kuyembekeza kwa moyo kwa fomu iyi kumasiyana, ndi ana ena amakhala mpaka zaka ziwiri ndi zitatu za moyo. Zizindikiro za matenda oyambirira amayamba monga:
- maonekedwe a nkhope ndifupikitsa
- chiwindi chofutukuka ndi nthata
- kusintha kwa maganizo ndi kupitirira
- zikopa zamakono a njovu kumtunda kumbuyo ndi kumbali ya manja ndi ntchafu zakumtunda
- Kusintha kwa zigoba, kuuma kwa mgwirizano, khosi lalifupi, chifuwa chachikulu, komanso mutu waukulu
- osamva
- atypical retinitis pigmentosa ndi kuwonongeka koyang'ana
Zizindikiro izi ndi zofanana ndi za matenda a Hurler . Komabe, zizindikiro za matenda a Hurler zimakula mwamsanga ndipo zimakhala zoipitsitsa kuposa za matenda oyambitsa matenda a Hunter.
MPS Wachiwiri Wachiwiri
Matenda a Hunter oterewa ndi ovuta kwambiri kuposa oyambirira komanso sangathe kupezeka mpaka atakula. Anthu omwe ali ndi matendawa amakhala ndi chiyembekezo chokhala ndi moyo wautali ndipo akhoza kukhala ndi zaka 70. Zochitika zawo zofanana ndi zomwe zili ndi MPS II; Komabe, anthu omwe ali ndi mapulogalamu a MPS II amakhala ndi nzeru zambiri ndipo alibe mavuto aakulu a mtundu woopsa kwambiri.
Kudziwa
Chifukwa cha matenda aakulu a Hunter, mawonekedwe a mwanayo pamodzi ndi zizindikiro zina monga chiwindi chachikulu ndi nthata komanso zilonda zamakhungu a njovu zamtundu (zomwe zimadziwika kuti ndi chizindikiro cha matenda) zinganene kuti mwanayo ali ndi mucopolysaccharidosis. Matenda Osautsa Osavuta ndi ovuta kuwunikira, ndipo amatha kudziwika pamene akuyang'ana achibale omwe ali ndi HIV ndi matenda a Hunter.
Mwa mtundu uliwonse, matendawa angatsimikizidwe ndi kuyesa kwa magazi chifukwa cha kusowa kwa I2S. Kufufuza kwa ma enzyme kapena kuyesa kwa majini kuti asinthe mu jini la iduronate sulfatase angathenso kudziwa kuti ali ndi vutoli. Mucopolysaccharides ikhozanso kupezeka mu mkodzo. X-rays akhoza kuwulula fupa kusintha kwa thupi la Hunter matenda.
Kuchiza MPS II
Pakalipano, palibe chithandizo cha matenda a Hunter.
Chithandizo chamankhwala chikuwongolera kuthetsa zizindikiro za MPS II. Kuchiza ndi Elaprase (idursulfase) kumalowa m'malo mwa I2S m'thupi ndipo kumathandiza kuchepetsa zizindikiro ndi ululu. Njira yopuma yopuma ikhoza kusokonezeka, kotero kusamalira bwino ndi kupenya ndikofunikira. Kuchiza thupi ndi kuchita masewera olimbitsa thupi tsiku ndi tsiku n'kofunika. Akatswiri ambiri amathandizidwa ndi munthu amene ali ndi matenda a Hunter. Wothandizira mazenera akhoza kulangiza banja ndi achibale za kuopsa koyambitsa matenda.
Zotsatira:
MPS II (Hunter syndrome) MPS ndi Matenda Ogwirizana. National MPS Society.
Zolemba za Kunyumba za Genetics. Mucopolysaccharidosis mtundu II.