Mate Tay-Sachs. He mate tuku iho onge

mate Tay-Sachs - he mate riro e te, āhuatanga e te whanaketanga rawa tere o te pokapū pāpaka pūnaha io, me te roro o te tamaiti.

I whakaahuatia tuatahi te mate i te ophthalmologist Ingarangi Warren Tay me toketā neave American Bernard Sachs i te rau tau XIX. kua hanga ēnei aivanaa he takoha faufaa ki te ako o tenei mate. mate Tay-Sachs - ko te mate onge. Aro ki reira etahi ngā iwi. E mea pinepine i tenei mate mamae te taupori o Quebec ko Louisiana Wīwī i Canada, me te Hurai e noho ana i roto i Eastern Europe. I roto i te whānui, i roto i te ao i te pā o te mate 1: 250,000.

Ko te take o te mate

puta mate Tay-Sachs i roto i te tangata e riro te ira mutant i ngā mātua e rua. I roto i te take i reira he kaikawe o te ira, ko te kotahi anake o te mau metua, e kore e whiwhi mate te tamaiti. Otiia, i roto i te tahuri, riro he kawe o te mate i roto i te 50% o te wā.

I roto i te aroaro o te ira whakarerekētia o te tinana tangata whakairihia ana tona production o te pūmua whākōkī motuhake - hexosaminidase A, i te mea te kawenga mō te wāwāhi o lipids matatini tūturu i roto i te pūtau (gangliosides). Ahu enei matū i te tinana e kore e taea. arata'i ratou haaputuraa ki te ārai o te roro, me te karere kino pūtau. ai tenei mate Tay-Sachs. Ka taea te kite Photos o ngā take i roto i tenei tuhinga.

tātaringa

Ka rite ki te tahi atu mate tuku iho o te hou, e taea te pāngia tenei mate i te wā wawe. Ki te whakapae matua e te te mamae ratou tamaiti i Tay-Sachs syndrome, ka hiahia koe ki te kōrero wawe te mātanga kanohi. I muri i te katoa, te tohu tuatahi o tenei mate nanakia ko te wahi here-whero, kitea nei i roto i te ako o te fundus o te tamaiti. whakatika Ira no te whakaeminga gangliosides i roto i ngā pūtau tuaroa.

Katahi ka kawea i roto i rangahau pērā i te whakamātautau āta (he whakamātautau toto whānui) me te tātaritanga mōkitokito o te neurons. Tātari whakamātautau whakaatu ranei puta pūmua production momo Hexosaminidase Analysis A. o neurons heheu, ki te tetahi o ratou gangliosides.

Ki te matau te mau metua i roto i te mua e he kawe o ira kino, he mea e tika ana hoki ki te haere i te whakamātautau āta, whakahaere nei i te 12 wiki o te hapūtanga. I roto i te ako, i tangohia toto i te ewe. ka mārama te hua whakamātautau mēnā riro te tamaiti kua nga ira mutated i to ratou mau metua. Kei te whakahaeretia hoki tenei whakamātau i roto i ngā taiohi me ngā pakeke ki te ahua o tohu rite, me te whakapapa kino.

Ko te whanaketanga o te mate

mauiui fanau i Tay-Sachs syndrome, rite tamariki katoa waho titiro reira, a ka āhua tino hauora. Te mea mua, ka kore e tonu taua mate onge, me i te take o te mate i roto i te pātai ki te ono marama anake. Whakatika ki te 6 marama, kua whakatoatoa nei te tamaiti i roto i te ara ano i rite ona hoa. Ko te pai e mau tona matenga i roto i ona ringa mea, whakaputa ai etahi oro e tīmata ki te ngōki.

Mai gangliosides i roto i te pūtau kore e pakaru iho, kohikohi ratou he maha rawaka ki te whakarite e te tamaiti ngaro riro pūkenga. E kore e te tamaiti te huru ki te iwi a tawhio noa ratou, whakahaua tona kanohi i te wāhi kotahi, i reira he tau'a. I muri i te tetahi wā o te wā whakawhanake matapo. I muri mai, riro mata o te tamaiti, ano he karetao. Tikanga, tamariki ki mate onge e kua pā ana ki te retardation hinengaro, e kore e muri roa. I roto i te take o Tay-Sachs pēpi riro hauā, me te varavara ora tua atu 5 tau.

Tohu i roto i te mate kohungahunga:

• I roto i te 3-6 marama tīmata te tamaiti ki te ngaro whakapā ki te ao waho. whakakitea ana tēnei i roto i te meka e kihai i mohio ki ia tei herehia, taea ki te huru anake ki nui reo, e kore e taea e arotahi ki runga i te tumu parau o te whakakitenga, noa- kanohi, ino kite i muri.
• I roto i te 10 marama o te mahi pēpi heke. riro te reira i uaua ki te neke (ki te noho, ngokingoki, hurihia ki runga). Orama me rongo kua poutoa whakawhanake tau'a. Kia whakanui i te rahi upoko (macrocephaly).
• I muri i te 12 marama, kei te whiwhi i te mate whakauka. Riro kitea retardation hinengaro o te tamaiti, ia hohoro tīmata ki te ngaro rongo, kite, worsens mahi uaua, fifi i roto i te manawa, puta haurangi.
• I 18 marama, ko te tamaiti tino tangohia o rongo me te kite, i reira he haehae, nekehanga mate hukihuki, pāpāngia whānui. E kore e te ākonga te huru ki te marama, me te whakawhānui. whakawhanake atu rigidity decerebrate tika ki te kino roro.
• I muri i te 24 marama, mamae te tamaiti bronchopneumonia me maha mate i mua i tae ratou 5 tau. Ki te he taea ki te ora roa i te tamaiti, whakawhanake ia ngä ōritetanga mate i roto i ngā rōpū rerekē o te uaua (ataxia) me te nekeneke tērā e kauneke i waenganui i 2 me 8 tau.

mate Tay-Sachs me ētahi atu puka aroaro.

kore punua hexosaminidase A

Ko tēnei puka o te mate tīmata ki te whakaatu ano i roto i ngā tamariki 2 ki te 5 tau te pakeke. Whakawhanake mate atu pōturi atu i roto i nga kohungahunga. Na reira, e kore te mea tonu e kitea nga tohu o tenei mate tuku. He hīrere huru, clumsiness o kaupapa. e kore te tino unuhia ana e ia i te whakarongo o ngā pakeke.

Next, puta te whai ake:

• reira he uaua ngoikore;
• hukihuki iti;
• kupu slurred me te takahi o te tukanga whakaaro.

Ko te mate i tenei tau arata'i hoki ki hauātanga. mate te tamaiti i mua i 15-16 tau.

Amovroticheskaya idiocy taitamariki

tīmata te mate ki te haere i mua i roto i te 6-14 tau. He he rere ngoikore, engari te mutunga whiwhi matapo mate, tupu, uaua ngoikore, pāpāngia taea o nga wahi. I muri i noho ki tenei mate, ara i te tau torutoru, mate te tamariki i roto i te āhua o te wairangi.

Ko te puka ma'i o hexosaminidase hē

Ko te tikanga puta i roto i te iwi nei i noho mō te 30 tau. Ko te mate i roto i tenei puka ko te akoranga puhoi a te nuinga o he ngawari. He hīrere huru, korero slurred, clumsiness, heke maramarama, abnormalities whanonga, uaua ngoikore, haurangi. Kua Tay-Sachs syndrome i roto i te puka ma'i kua whakatuwheratia ngā tata, a kahore e matapae mō te heke mai mea taea. Ko ko reira mārama e ka kore te mate arahi ki hauātanga.

Maimoatanga o te mate Tay-Sachs

e kore e tenei mate, me te nga mana katoa o te idiocy ano i maimoatanga. Tūroro i runga i te tiaki therapy, me te tiaki te u. Tikanga, taero e kua whakaritea ki cramps, e kore e tono. Mai i ngā pēpi e kore pūpū horomia a maha whai ki te whangai ia ratou i roto i te ngongo. Ko te mate o te tamaiti mate ko te tino ngoikore, kia whai ki te hamani tahi-morbidities koe. Ko te tikanga, Kei te patua tamariki no te mea o te mate viral.

Prevention o tenei mate ko te rangahau o faaipoipo, e hāngai ana ki te tāutu i ngā irakētanga i roto i ira e faaite te mate Tay-Sachs. Ki te tetahi, kia tūtohutia kore ki te ngana ki te whai tamariki.

Ki te he mate koutou tamaiti

A, no te he e tika ana te kāinga tiaki ki te ako pehea ki te mahi i pana wai postural me wawata nasogastric. Whangaia te tamaiti i roto i te ngongo i hoki ki te kia e kore i puta te kiri bedsores.

Ki te whai atu tamariki hauora koe, na e hiahia ana koe ki te titiro ia ratou mo te aroaro o te ira mutant.