Matenda Osavuta Ambiri Amagwirizana ndi Magulu Ena
Matenda a Tay-Sachs ndi matenda osadziwika a majini omwe amalepheretsa anthu ena kukhala amitundu. Amadziwika ndi kuwonongeka kwa maselo a mitsempha m'katikati mwa mitsempha ya mitsempha ndipo ikhoza kuchititsa khungu, kusamva, ndi kutaya kwa ntchito zamaganizo ndi zakuthupi.
Tay-Sachs ndi matenda ovuta kwambiri a autosomal disorder , kutanthauza kuti ndi matenda omwe amachokera kwa makolo ake.
Matendawa amagwirizana ndi kusintha kwa maselo a HEXA omwe ali ndi kusiyana koposa 100. Malingana ndi kusintha komwe kumapangidwira, matendawa amatha kutenga mitundu yosiyanasiyana, kuchititsa matenda kuyambira ali wakhanda, ubwana, kapena munthu wamkulu.
Imfa kawirikawiri imapezeka mwa ana mkati mwa zaka zingapo za zizindikiro zoyamba, pamene kuwonongeka kwa maselo a mitsempha kumawasiya iwo osakhoza kuyenda kapena ngakhale kumeza. Pakapita patsogolo, ana adzayamba kudwala matenda. Ambiri amafa chifukwa cha matenda a chibayo kapena matenda ena opuma.
Ngakhale kuti anthu ambiri sapezeka, Tay-Sachs amawonekera kawirikawiri Ayuda a Ashkenazi, Cajuns a kum'mwera kwa Louisiana, a ku Canada a ku Canada ku Southern Quebec, ndi a ku America.
Mmene Zimayendera Matenda
Gulu la HEXA limapereka malangizo opanga mtundu wa enzyme yotchedwa hexosaminidase A. Pulojekitiyi imayambitsa kuthetsa mafuta omwe amadziwika kuti GM2 ganglioside.
Kwa anthu omwe ali ndi matenda a Tay-Sachs, hexosaminidase A sagwira ntchito mofananamo. Popanda njira zowononga mafutawa, zigawo zoopsa zimayamba kuwonjezeka mu maselo a ubongo ndi msana, potsirizira pake amawawononga ndi kuwatsogolera ku zizindikiro za matendawa.
Matenda a ana a At-Tay-Sachs
Matenda a Tay-Sachs amasiyana ndi zizindikiro zomwe zimayamba kukula.
Mtundu wochuluka kwambiri ndi matenda a infantile Tay-Sachs, zizindikiro zoyambirira zomwe zidzawoneka pakati pa miyezi itatu ndi isanu ndi umodzi. Ino ndi nthawi yomwe makolo adzayamba kuona kuti kukula kwa mwana wawo komanso kusuntha kwake kunachepetsedwa.
Panthawiyi, mwanayo sangathe kutembenuka kapena kukhala pansi. Ngati mwanayo ali wamkulu, akhoza kukhala ndi vuto lokwawa kapena kutambasula dzanja. Adzasonyezeranso zowonjezereka, zozizwitsa zomwe zingamveke phokoso lofuula ndipo zingawoneke ngati zopanda pake kapena zovuta. Kuchokera kumeneko, kuwonongeka kwa ntchito zamaganizo ndi zakuthupi kawirikawiri kumakhala kosalekeza komanso kozama.
Zizindikiro zimaphatikizapo:
- Kugonjetsa
- Masomphenya ndi kutayika
- Kumva kumva ndi kumva
- Kuthetsa ndi kuvutika kumeza ( dysphagia )
- Kupweteka kwa misampha ndi kupasula
- Musosis atrophy
- Kutayika kwa ntchito zamaganizo ndi zamaganizo
- Kufa ziwalo
- Imfa
Imfa, ngakhale ndi chithandizo chamankhwala abwino kwambiri, kawirikawiri imapezeka musanafike zaka zoposa zinayi.
Zomwe Zili Zofanana
Ngakhale kuti infantile Tay-Sachs ndi mtundu waukulu wa matendawa, pali mitundu yocheperako yomwe imawonedwa mwa ana ndi akulu. Nthawi yoyamba ya matendawa ikugwirizana kwambiri ndi kuphatikiza kwa majini omwe tinalandira kuchokera kwa makolo.
Pa mitundu iwiri yocheperapo:
- Matenda a Juvenile Tay-Sachs amaonetsa zizindikiro kuyambira ali ndi zaka ziwiri mpaka khumi. Mofanana ndi infantile Tay-Sachs, kupitirira kwa matendawa sikulephereka, kumapangitsa kuti chidziwitso cha malingaliro, chilankhulo, minofu chigwirizane, komanso dysphagia. Imfa kaŵirikaŵiri imapezeka pakati pa zaka zisanu ndi zisanu ndi zisanu.
- Matenda am'tsogolo a Tay-Sachs (omwe amadziwikanso kuti wamkulu Tay-Sachs) ndi osowa kwambiri ndipo nthawi zambiri amakhala akuluakulu pakati pa 30 ndi 40. Mosiyana ndi mitundu ina ya matendawa, kawirikawiri siimfa ndipo imasiya kupita patsogolo nthawi yochuluka. Panthawi imeneyi, munthu akhoza kuchepa mu malingaliro, kusakhazikika, mavuto, kulankhula, dysphagia, kusasamala, komanso psychosophrenia monga psychosis. Anthu omwe ali ndi vuto lochedwa Tay Sachs amatha kukhala olumala mpaka kalekale ndipo amafunikanso kukhala ndi olumala nthawi zonse.
Genetics ndi Cholowa
Mofanana ndi vuto lililonse la autosomal disorder, Tay-Sachs amapezeka pamene makolo awiri omwe alibe matendawa amathandiza kuti ana awo azikhala ndi matenda enaake .
Makolo amaonedwa ngati "othandizira" chifukwa ali ndi jini limodzi lopambana (lachibadwa) ndi jini imodzi (mutated) ya jini. Ndipokhapokha ngati munthu ali ndi majeremusi awiri omwe Tay-Sachs amatha kuchitika.
Ngati makolo onse ali ndi zonyamulira, mwana ali ndi mwayi wokhala ndi magawo awiri (ndi kutenga Tay-Sachs), 50 peresenti yokhala ndi vuto limodzi lokhala ndi vuto limodzi (ndi kukhala chonyamulira), ndi 25 peresenti mwayi za kutenga majini akuluakulu (komanso osasamala).
Chifukwa pali kusintha kwakukulu kwa HEXA kusinthika, kuphatikiza mosiyana kwambiri kumatha kukhala ndi matanthauzo osiyanasiyana. Nthawi zina, kuphatikiza kudzapangitsa kuti pakhale matenda ofulumira komanso ofulumira kwambiri, ndipo nthawi zina pakapita nthawi pang'onopang'ono matenda amayamba.
Ngakhale asayansi ali pafupi kumvetsetsa zomwe zimagwirizanitsa ndi mtundu uti wa matendawa, pakadalibe mipata yayikulu mukumvetsetsa kwathu kwa chibadwa cha Tay-Sachs mu mawonekedwe ake onse.
Ngozi
Zosavuta monga Tay-Sachs ndi anthu ambiri-omwe amapezeka m'modzi mwa anthu 320,000 obadwa-pali anthu ena omwe chiopsezocho chimakula kwambiri.
Zowopsya zimakhala zovuta kwambiri kuti anthu otchedwa "okhazikitsidwa" omwe magulu amatha kuyang'ana mizu ya matendawa kubwerera kumudzi wina wamba. Chifukwa cha kuchepa kwa mitundu yosiyanasiyana ya mafupa m'magulu awa, kusintha kwasintha kwafala kwambiri kwa ana, zomwe zimapangitsa kuti pakhale kuchuluka kwa matenda a autosomal.
Ndi Tay-Sachs, tikuwona izi ndi magulu anayi:
- Ayuda a Ashkenazi ali ndi chiopsezo chachikulu cha Tay-Sachs, ndipo mmodzi mwa anthu 30 ali ndi chonyamulira. Mitundu yeniyeni ya kusintha kwa anthu (yotchedwa 1278insTATC) imayambitsa matenda a Tay-Sachs. Ku United States, mmodzi mwa ana 3,500 a Ashkenazi adzakhudzidwa.
- Cajuns kumwera kwa Louisiana amakhudzidwa ndi kusintha komweko ndipo amakhala ndi chiopsezo chofanana. Akatswiri a sayansi akhala akutha kuona za makolo a makolo awo omwe anabadwira kumbuyo kwa zaka za m'ma 1700 kupita ku banja lina lomwe linakhazikitsidwa ku France omwe sanali Ayuda.
- Anthu a ku Canada a ku Quebec ali ndi chiopsezo chomwecho monga Cajuns ndi Askenazi Ayuda koma amakhudzidwa ndi kusintha kosagwirizana konse. Pakati pa anthuwa, akukhulupirira kuti chimodzi kapena zonse zimasintha kuchokera ku Normandy kapena Perche mpaka ku New France nthawi ina cha m'ma 1800.
- Anthu a ku America a ku America sakhala okhudzidwa kwambiri koma amakhala ndi mwayi wokhala ndi chithandizo. Vutoli likuwoneka kuti ndilo lalikulu pakati pa mabanja omwe ali ndi agogo aamuna atatu a ku Ireland pakati pawo.
Kudziwa
Pambuyo pa zizindikiro zamaganizo ndi zidziwitso za matendawa, chimodzi mwa zizindikiro zowonongeka kwa ana ndi diso losaoneka bwino lomwe limatchedwa "malo a chitumbuwa". Matendawa, omwe amadziwika ndi chotupa, chofiira chofiira pa retina , amapezeka mosavuta panthawi yoyezetsa maso nthawi zonse. Nkhumba ya chitumbuwa imawoneka mwa ana onse omwe ali ndi matenda a Tay-Sachs komanso ana ena. Sichikuwoneka kwa akuluakulu.
Malingana ndi mbiri ya banja komanso maonekedwe a dokotala, adokotala amatsimikizira kuti ali ndi matenda a magazi poyesa kuyezetsa magazi kuti aone ngati pali hexosaminidase A, yomwe ingakhale yotsika kapena yosakhalapo. Ngati pali kukaikira kulikonse pa matendawa, dokotala akhoza kuchita mayeso a chibadwa kuti atsimikizire kusintha kwa HEXA .
Chithandizo
Palibe mankhwala a Tay-Sachs matenda. Chithandizo chimayang'aniridwa makamaka ndi kasamalidwe ka zizindikiro, zomwe zingaphatikizepo:
- Mankhwala osokoneza bongo monga gabapentin kapena lamotrigine
- Mankhwala oletsa antibayotiki kuteteza kapena kuchiza chikoka chibayo
- Chifuwa cha physiotherapy kuchiza kupuma kwa mpweya
- Mankhwala othandizira kuti ziwalozo zisinthe
- Mankhwala monga trihexyphenidyl kapena glycopyrrolate kuti asamawononge mapanga ndi kupewa kutaya
- Kugwiritsira ntchito mabotolo a mwana omwe anawapangidwira ana okhala ndi zida zosavuta kuti athandizidwe kumeza
- Zosangalatsa za minofu ngati diazepam kuti mukhale olimba ndi kupondaponda
- Kudyetsa makapu kumaperekedwa kudzera mu mphuno ( nasogastric ) kapena opaleshoni yomwe imalowetsedwa m'mimba (mankhwala osokoneza bongo omwe amatha kupweteka, kapena PEG tube)
Ngakhale kuti kafukufuku wamatenda ndi njira yowonjezera yowonjezereka ikuyendetsedwa ngati njira yothetsera kapena kuchepetsa matenda a Tay-Sachs, ambiri ali pachiyambi cha kafukufuku.
Kupewa
Potsirizira pake, njira yokhayo yopezera Tay-Sachs ndikutenga maanja omwe ali pachiopsezo chachikulu ndikuwathandiza kupanga zosankha zoyenera zobereka. Malingana ndi momwe zinthu zilili, njira yothetsera vutoli ingakhalepo kale kapena panthawi ya mimba. Nthawi zina, pangakhale zovuta zoyenera kuziganizira.
Zina mwazochita:
- Pakati pa mimba, amniocentesis kapena chorionic villus sampuli (CVS) angagwiritsidwe ntchito pochotsa maselo a fetal oyezetsa magazi. Mabanja angathe kusankha ngati kuchotsa mimba malinga ndi zotsatira.
- Amuna omwe ali mkati mwa vitro feteleza (IVF) akhoza kukhala ndi mazira obadwa nawo asanayambe kuikidwa. Pochita zimenezi, banjali likhoza kuonetsetsa kuti mazira omwe ali ndi thanzi amatha kupititsa m'mimba. Ngakhale zogwira mtima, IVF ndi yokwera mtengo kwambiri.
- M'madera achiyuda a Orthodox, gulu lotchedwa Dor Yeshorim limapanga mafilimu osadziwika a matenda a Tay-Sachs ku sukulu ya sekondale. Anthu omwe akuyesedwa akupatsidwa chiwerengero cha zizindikiro zisanu ndi chimodzi. Akapeza munthu woti angakwatirane naye, banjali likhoza kuyitana otchandila ndikugwiritsa ntchito nambala zawo za chiwerengero poyesa "kugwirizana." Ngati onsewo ali atanyamula katundu, iwo adzasankhidwa kukhala "osagwirizana."
Mawu Ochokera
Ngati mukupeza zotsatira zabwino za matenda a Tay-Sachs-mwina ngati chonyamulira kapena kholo-ndikofunikira kulankhula ndi dokotala wodzinso kuti amvetsetse zomwe matendawa amatanthauza komanso zomwe mungasankhe. Palibe zolakwika kapena zosankha zoyenera, zokhazokha zomwe inu ndi mnzanuyo muli nazo zogwirizana ndi chinsinsi ndi ulemu.
> Zotsatira:
> Bley, A .; Giannikopoulos, O .; Hayden D. et al. "Mbiriyakale ya zachilengedwe G (M2) gangliosidosis." Matenda. 2011; 128: e1233-41. DOI: 10.1542 / peds.2011-0078.
> Hall, P .; Minnich, S.; Teigen, C. et al. "Kuzindikira matenda osungira malungo: GM2 gangliosidoses." Curro Protoc Hum Genet . 2014; 83: 17.161-8. DOI: 10.1002 / 0471142905.hg1716s83.
> Ma Institutes of Health. "Matenda a Tay-Sachs." Gen Home Ref. Bethesda, Maryland; zasinthidwa pa January 23, 2018.
> Schneider, A .; Nakagawa, S .; Pitirizani, R. et al. "Kuwonetsera kwa anthu a Tay-Sachs omwe amawerengera anthu pakati pa achinyamata a Ashkenazi m'zaka za zana la 21: hexosaminidase A kuyesayesa kuyesa ndi kofunikira pofuna kuyesa molondola." Am J Med Genet A. 2009; 149A: 2444-7. DOI: 10.1002 / ajmg.a.33085.
> Steiner K .; Brenck, J .; Goericke, S. et al. "Cerebellar atrophy ndi kufooka kwa minofu: matenda ochedwa Tay-Sachs kunja kwa Ayuda." BMJ Nkhani Rep . 2016; 2016: bcr2016214634. DOI: 10.1136 / bcr-2016-214634.