Tay-Sachs matenda. A matenda osowa kumtundu

Tay-Sachs matenda - matenda amene ungwiro, amakhala ndi chitukuko mofulumira kwambiri chapakati zotupa mantha dongosolo, ndi ubongo wake.

Matendawa anafotokozedwa koyamba ndi maso British Warren Tay ndi American katswiriyu Bernard Sachs mu XIX atumwi. Izi asayansi kwambiri apanga amathandiza kwambiri kuphunzira za matenda. Tay-Sachs matenda - ndi matenda osowa. Predisposed kwa izo zina mafuko. Kawirikawiri matenda zowawa anthu Quebec ndi Louisiana French ku Canada, komanso Ayuda okhala mu Europe. Ambiri, mu dziko la zochitika za matenda 1: 250,000.

Zimayambitsa matenda

matenda Tay-Sachs akupezeka anthu amene adzalandira jini ZOOPSA kwa makolo onse. Ngati kumene chonyamulira cha jini ndi kholo limodzi, mwanayo akhoza kudwala. Koma, nayenso amakhala chonyamulira cha matenda 50% ya milandu.

Pamaso pa jini kusinthidwa wa thupi suspends kupanga ake a enzyme yeniyeni - hexosaminidase A, omwe ndi amene akuwaza a lipids zachilengedwe lovuta maselo (gangliosides). Amapeza zinthu izi kwa thupi si zotheka. kudzikundikira awo kumabweretsa Letsani a ubongo ndi mitsempha kuwonongeka selo. Zimenezi zimachititsa matenda Tay-Sachs. Photos milandu Tingaone m'nkhani ino.

diagnostics

Mofanana ndi cholowa matenda a ana akhanda, matenda awa akhoza anapezeka pa siteji oyambirira. Ngati makolo akuganiza kuti mwana wawo akudwala matenda Tay-Sachs, ndiye muyenera mwachangu kufunsa diso katswiri. Ndipotu chizindikiro cha matenda oopsa ndi malo chitumbuwa yofiira, amene asunga mwa kuphunzira za fundus mwanayo. Malo ukapezeka chifukwa gangliosides kudzikundikira maselo retinal.

Ndiye ikuchitika maphunziro monga mayeso mosamala (yaikulu magazi mayeso) ndi kusanthula tosaoneka manyuroni lapansi. Kuphimba mayeso kumasonyeza ngati kupanga mapuloteni amapezeka Hexosaminidase mtundu A. Analysis wa manyuroni limasonyeza, ngati gangliosides aliyense wa iwo.

Ngati makolo kudziwa pasadakhale kuti ali ndi majini zoipa ndi zofunika mayeso mosamala, imene imachitika pa masabata 12 a gestation. Mu phunziro, magazi kuchokera latuluka lapansi. The chifukwa adzayesedwa bwino ngati mwana anatengera chibadwa mutated kwa makolo awo. chiyeso chimenechi amachitika achinyamata ndi akulu ndi maonekedwe a zizindikiro zofanana ndi chibadwa zoipa.

Chitukuko cha matenda

mavuto akhanda ku matenda Tay-Sachs, kunja izo zikuwoneka ngati ana onse, ndipo zikuoneka wathanzi kwambiri. Chinthu mwachizolowezi, pamene matenda osowa si mwamsanga, ndipo mu nkhani ya matenda funso miyezi isanu ndi umodzi. Mpaka miyezi 6, mwana khalidwe chimodzimodzi monga anzake. Kuti ndi bwino akugwirizira mutu zake m'manja zinthu, pali mabuku ena phokoso akhoza kuyamba kukwawa.

Popeza gangliosides maselo si unagwa, iwo kudziunjikira okwanira kuonetsetsa kuti mwana anataya anaphunzira luso. Mwanayo samva kuti anthu owazungulira, maso ake amalandira mfundo imodzi, pali mphwayi. Patapita nthawi zina nthawi akufotokozera khungu. Kenako, nkhope mwanayo amakhala ngati zidole. Childs, ana ndi matenda kawirikawiri imakhudzana ndi retardation maganizo, kodi nthaŵi yaitali. Pankhani ya Tay-Sachs mwanayo olumala ndipo kawirikawiri kupulumuka kupitirira zaka 5.

Zizindikiro matenda makanda:

• Mu 3-6 miyezi mwana wayamba kutaya kukhudzana ndi dzikoli. Izi anawonetseredwa mu chakuti sanazindikire okondedwa, wokhoza kuchita kokha mapokoso okweza, sangaone pa phunziro la masomphenya, diso twitch, masomphenya chatsitsa ina.
• Pa miyezi 10 za ntchito mwana amachepetsa. Zimakhala zovuta kusuntha (kukhala, kumakwawa, gubuduzani). Masomphenya ndi kumva blunted akufotokozera mphwayi. Achuluke kukula mutu (macrocephaly).
• Patatha miyezi 12, nthendayo ikupita patsogolo. Imaonekera retardation maganizo a mwana, iye mwamsanga akuyamba kutaya kumva, kuona, ntchito minofu worsens, kupuma, khunyu kuonekera.
• Pa miyezi 18, mwana kwathunthu mosatsata kumva ndi masomphenya, pali khunyu, kayendedwe chonsechi, zowombetsa mkota ziwalo. Ophunzira samva kuwala ndi kukodzedwa. Komanso decerebrate chinthu chimodzimodzi akufotokozera chifukwa cha kuwonongeka kwa bongo.
• Patatha miyezi 24, mwanayo amadwala bronchopneumonia ndi zambiri kufa akamafika zaka 5. Ngati mwana ali ndi moyo wautali, akukula kugwirizana kuchepetsedwa chisokonezo mu magulu osiyana a minofu (ataxia) ndi liwiro galimoto yomwe ili m'kati pakati pa zaka 2 ndi 8.

matenda Tay-Sachs ndi njira zina anapereka.

Zaumbanda kulephera hexosaminidase A

Izi mawonekedwe a matenda ayamba kuonekera ana zaka 2 mpaka 5. Mukhale matenda pang'onopang'ono kusiyana ndi makanda. Choncho, zizindikiro za matenda otengera sakhala pomwepo kuwoneka. Pali mmene alili, clumsiness kuyenda. Iwo alibe nakokera chidwi cha akulu.

Kenako, zotsatirazi akupezeka:

• pali minofu kufooka;
• khunyu yaing'ono;
• slurred kulankhula ndi kuphwanya njira lingaliro.

The matenda pa m'badwo uno tidzapeze chilema. mwana A wakufa zaka 15-16.

Amovroticheskaya unyamata idiocy

Matendawa amayamba patsogolo zaka 6-14. Iwo ali ndi nthenda ofooka, koma pamapeto pake amayamba khungu odwala, maganizo, kufooka kwa thupi, nkotheka ziwalo za nthambi. Atatha kukhala ndi matenda, ngakhale zaka zingapo, ana zimafa mu mkhalidwe misala.

Mawonekedwe aakulu a akusowa hexosaminidase

Kawirikawiri limapezeka anthu amene anakhala zaka 30. The matenda fomu iyi ndi njira pang'onopang'ono ndipo kawirikawiri ndi wofatsa. Pali mmene alili, mawu slurred, clumsiness, utachepa nzeru, kuvutika khalidwe, kufooka kwa thupi, khunyu. Tay-Sachs syndrome mu mawonekedwe aakulu chatsegulidwa ndi posachedwapa, ndipo odziŵa za m'tsogolo sakuwoneka zotheka. Koma zikuonekeratu kuti matenda ayenera kuyambitsa chilema.

Chithandizo cha matenda Tay-Sachs

matenda, komanso mphamvu zonse za idiocy alibe mankhwala. Odwala pa mankhwala yokonza ndi chisamaliro unamwino. Childs, mankhwala amene Kwalamulidwa ndi omangana, musati ntchito. Chifukwa ana palibe reflex kumeza ndi zambiri ndi chakudya kudzera chubu. The chitetezo chokwanira cha mwana wodwala ali ofooka kwambiri, kotero kuchitira co-morbidities. Kawirikawiri, ana amene akuchita kuphedwa chifukwa cha matenda enaake.

Kupewa matenda ndi kafukufuku wa banja, umalimbana akudzizindikiritsa masinthidwe majini amene amadziwika ndi matenda Tay-Sachs. Ngati aliyense ayenera tikulimbikitsidwa kuti amafuna kuti ana.

Ngati mwana wanu akudwala

Pamene chisamaliro kunyumba amafunikira kuphunzira mmene kuchita postural ngalande ndi nasogastric chiyembekezo. Dyetsani mwana kupyolera mwa chubu ndi komanso kuonetsetsa kuti khungu sizinayambe bedsores.

Ngati muli ndi ana ena wathanzi, ndiye muyenera kukaziyesa pamaso pa jini ZOOPSA.