Mucopolysaccharidosis I (MPS-1) - Yeremia Ype ya Matenda Osungirako Makilogalamu
Ngati mwaphunzira kuti mwana wanu kapena mwana wa wokondedwa ali ndi matenda a Hurler, mwina mumasokonezeka ndi mantha. Kodi izi zikutanthauza chiyani?
Tanthauzo
Matenda a Hurler ndi mtundu wosungirako matenda m'thupi chifukwa cha kusowa kwa enzyme imodzi. Mavitamini osadziwika, alpha -L-iduronidase (IDUA) amayamba chifukwa cha jini mutation mu jini la IDUA, jini lomwe lili pa chromosome 4.
Chikhalidwe chimasiyana mozama, koma ndi chikhalidwe chokhala ndi maonekedwe ambiri.
Kumvetsetsa Mucopolysaccharidoses (MPS)
Mucopolysaccaridoses (MPS) ndi gulu la matenda omwe amachititsa kuti tizilombo toyambitsa matenda tizilombo toyambitsa matenda tizilombo toyambitsa matenda. Matenda a MPS amayamba chifukwa cha kusowa kwa puloteni wina wotchedwa alpha-L-iduronidase (IUDA).
Enzyme Alpha-L-iduronidase imaphwanya maunyolo aatali a mamolekyu a shuga kuti thupi likhoza kuwatsuka. Popanda puloteni, ma molekyulu a shuga amamanga ndi kuwononga pang'onopang'ono ziwalo za thupi.
Kupanga ma molekyulu (glycosaminoglycans kapena GAGs) kumachitika mu lysosomes (gulu lapadera mu maselo omwe amagwira ma enzyme osiyanasiyana). Ma GAG enieni omwe amamanga m'matendawa amasiyana ndi mtundu uliwonse wa matenda a MPS.
Matenda a Hurler Syndrome kapena Hurler ndi mbiri yakale ya MPS.
Hurler ndiye dzina lomaliza la dokotala yemwe poyamba adalongosola chikhalidwecho.
Mwana adzawonetsa zizindikiro zochepa za matendawa atabadwa koma patapita miyezi ingapo (kamodzi ma molekyulu akuyamba kumangika mu maselo) zizindikiro zimayamba. Matenda osokoneza bongo angapezeke. Mtima ndi kupuma zimakhudzidwa, monga ziwalo zina zamkati kuphatikizapo ubongo.
Mwanayo amakula koma amakhala m'mbuyo mwathupi ndi m'maganizo akukula msinkhu wake.
Mwanayo akhoza kukhala ndi vuto lokwawa ndi kuyenda, ndipo mavuto ndi ziwalo zake zimakula, kuchititsa ziwalo za thupi ngati manja ake kuti zisathe kuwongoka. Ana omwe ali ndi matenda a Hurler amakumana ndi mavuto monga mtima kusokonekera kapena chibayo.
Kudziwa
Kuzindikira kwa matenda a Hurler kumadalira zizindikiro za mwanayo. Kawirikawiri, zizindikiro za MPS zazikulu ndizidzakhalapo pa chaka choyamba cha moyo, pomwe zizindikiro za MPS zowonongeka ndikuwoneka ndili mwana. Kuyesera kungawonetse ntchito yotsika ya enzyme. Zingakhalenso zotheka kuzindikira matendawa pa kuyesedwa kwa maselo a maselo
Kuyesedwa
Kuyezetsa magazi kwa MPS Ndine gawo la Pulogalamu Yoyang'anira Yomwe Yoyesedwa Yomwe Yavomerezedwa. Kuyezetsa magazi kwa anthu omwe ali pa chiopsezo amapezekapo, koma pokhapokha ngati mitundu yonse ya jini ya IUDA yadziwika m'banjamo.
Akatswiri ambiri amathandizidwa ndi munthu yemwe ali ndi MPS I. Wopereka mauthenga angayankhule ndi achibale komanso achibale za kuopsa kwa matendawa.
Mitundu
Pali mitundu iwiri ya mitundu ya MPS matenda ndi MPS I ndi gawo loyamba (ena ndi MPS II (Hunter syndrome), MPS III (Sanfilippo matenda), MPS IV, MPS VI, MPS VII, ndi MPS IX).
Zizindikiro
Matenda onse a MPS angayambitse zizindikiro zosiyanasiyana, koma matenda ambiri amagawana zizindikiro zofanana, monga:
- Makina a Korneal (mavuto a maso)
- Thupi lalifupi (lachilendo kapena pansipa)
- Umodzi wolimba
- Kulankhula ndikumva mavuto
- Hernias
- Matenda a mtima
Zizindikiro zofanana ndi matenda a Hurler (ndi Scheme ndi Hurler-Scheie) zimaphatikizapo:
- Maonekedwe osaoneka bwino (nkhope yosaoneka bwino) yofotokozedwa ngati "Inde"
- Kukulitsa kwa nthenda ndi chiwindi
- Kukaniza kwapansi kwapansi
- Ziphuphu zofooka
- Kukulitsa ndi kuumitsa kwa minofu ya mtima ( cardiomypathy )
Chikoka
Padziko lonse, MPS yaikulu ndimapezeka pafupifupi 1 mwa ana 100,000 obadwa ndipo imagawidwa m'magulu atatu molingana ndi mtundu, kuuma, komanso momwe zizindikiro zimayendera.
Ndondomeko ya MPS ine sindimakonda, yomwe imapezeka m'mabuku oposa 1,000 mwa obadwa 500,000.
Cholowa
Matenda a Hurler amachokera muzolowera , motanthawuza kuti mwana ayenera kulandira makope awiri a jini la MPS I, mmodzi kuchokera kwa kholo lirilonse, kuti adziwe matendawa.
Popeza kuti chikhalidwecho ndi choloŵa, makolo ambiri omwe ali ndi mwana ndi matenda a Hurler amada nkhaŵa kuti ana ena akhoza kubadwanso ndi michere yosowa. Popeza kuti vutoli ndi lodziŵika bwino, makolo onsewo amadziwika kuti "ogwira ntchito." Izi zikutanthauza kuti ali ndi jekeseni imodzi ya jini yomwe imapangitsa kuti tizilombo toyambitsa matenda tizilombo toyambitsa matenda, komanso chikho chimodzi chomwe sichitero. Mwana ayenera kulandira zamoyo zosavomerezeka kuchokera kwa makolo onse awiri.
Pangozi kuti makolo awiri omwe ali ndi zonyamulira adzakhala ndi mwana ndi MPS ine ndi 25 peresenti. Palinso mwayi wa 25 peresenti kuti mwana adzalandira makope onse awiri a majini. Theka la nthawi (50 peresenti) mwana adzalandira jini yolakwika kuchokera kwa kholo limodzi ndi jini yowonongeka kuchokera kumzake. Ana awa sadzakhala ndi zizindikiro zilizonse, koma adzakhala chonyamulira cha matenda monga makolo ake.
Mapangidwe
MPS ine ndikuwoneka kuti ndilipo pang'onopang'ono kuchokera ku zofooka (attenuated) mpaka kwakukulu: Pali kusiyana kwakukulu pakati pa izi ndipo palibe kusiyana kwakukulu kwa zamoyo zapachilengedwe pakati pa izi.
- MPS wodekha, kapena wochepetsedwa, amadziwikanso ngati Scheie matenda kapena MPS IS : Ana obadwa ndi mawonekedwewa ali ndi nzeru zenizeni ndipo akhoza kukhala akuluakulu.
- Maonekedwe akuluakulu a MPS I amadziwika kuti Hurler syndrome kapena MPS IH : Ana omwe amawoneka ndi mawonekedwe oopsa akhoza kukhala ndi vuto la maganizo, kufupika, ziwalo zolimba, kulankhula ndi kumva zovuta, matenda a mtima, ndi moyo wafupikitsidwa. Ana awa nthawi zambiri amawonekera mwachibadwa pakubalidwa ndi zizindikiro zosadziwika zomwe zikuchitika m'chaka choyamba cha moyo. Mwachitsanzo, m'chaka choyamba cha moyo iwo akhoza kukhala ndi matenda opuma opatsirana kapena umoyo wambiri, zomwe zimapezeka nthawi zambiri kwa ana omwe alibe matenda. Zojambula za nkhope zimaonekera m'chaka choyamba, zotsatizana ndi vuto la chigoba. Ndi zaka zitatu zomwe zimakula zimakhala zochepa kwambiri komanso mavuto ndikumva mavuto.
- Ana ena akhoza kukhala ndi nzeru zowonongeka komanso zozizwitsa; matendawa angatchedwa matenda a Hurler-Scheie kapena MPS I HS .
Zizindikiro zimenezi zimakhala zofanana kwambiri ndi za MPS II (matenda a Hunter) , koma matenda a Hurler matenda amayamba kuwonjezereka kwambiri kuposa mtundu wa Hunter mtundu wa A.
Chithandizo
Panopa palibe mankhwala a MPS I, kotero mankhwala akugwiritsira ntchito kuthetsa zizindikiro.
Mankhwala - Aldurazyme (laronidase) amalowetsa mavitamini osakwanira mu MPS I. Aldurazyme amaperekedwa mwa kulowetsedwa m'modzi kamodzi pa sabata kwa moyo kwa anthu omwe ali ndi MPS I. Aldurazyme amathandiza kuthetsa zizindikiro koma si mankhwala.
Kusamba kwa maselo a tsinde - Chithandizo china chimene chimapezeka kwa MPS Ine ndikuwongolera mafupa a mafupa , omwe amaika maselo abwino m'thupi kuti apange tizilombo toyambitsa matenda. Komabe, ana ambiri omwe ali ndi matenda a Hurler ali ndi matenda a mtima ndipo sangathe kupyolera mu chemotherapy yomwe imayenera kuikidwa. Kuika maselo azitsulo, ngati n'kotheka, kumatha kupulumuka, kufooka kwa nzeru, ndi matenda a mtima ndi kupuma, koma sizothandiza kwambiri polimbana ndi zizindikiro za chigoba.
Zotsatira:
Jameson, E., Jones, S., ndi T. Remmington. Njira yowonjezera mavitamini ndi Laronidase (Aldurazyme) pochiza Mucopolysaccharidosis mtundu I. Dongosolo la Cochrane la Zosintha Zogwirizana . 2016. 4: CD009354.
Wraith, J., ndi S. Jones. Mitundu ya Mucopolysaccharidosis I. Ndemanga zachipatala za Endocrinology . 2014. 12 Suppl 1: 102-6.
Wolf, D., Banerjee, S., Hackett, P., Whitley, C., McIvor, R., ndi W. Low. Gene Therapy kwa Neurologic Maonekedwe a Mucopolysaccharidoses. Maganizo a Ophunzira pa Kutumiza Mankhwala . 2015. 12 (2): 283-96.