Tauhohenga Gaucher: take me maimoatanga

Gaucher Reaction - he mate o huru ira, e hāngai ana nei i runga i te kore o te paru whai wāhi i roto i te tukanga pūkoro tinana i te taumata pūtau. Ki te whanaketanga o te mate i reira ko te hanganga o nohanga pūtau pathological i roto i te kopa, i nga okana.

He hītori poto

Gaucher Reaction - he aha te mea te reira? I te tuatahi tāutuhia te mate hoki i roto i te 1882, ka he rata French Philippe Gaucher Charles fakamatala'i ana tohu i roto i te manawanui ki te kōateate rahi.

I roto i te 1924, i taea e ki te synthesize te taonga fatty ki te tirotiro o ngā pūtau rerekē, ai hanga he whakaaro o te kaihoko pūtake nui o te mate kaiwhakaako.

I roto i 1965, kua whakaaturia tohunga o te American National Institutes o Health e te hanganga o ngā pūtau hawata ana he tika ki te hē tuku i roto i te tinana o te glucocerebrosidase whākōkī. hua tātaritanga angitu ngā te pūtake mō te whakawhanake i te kapu therapy whākōkī tikanga whakauru. E kore te mea te huarahi hou ki te maimoatanga taea ki te whakakore i te mate rawa, engari ngā ha faingamālie ki nui whakaiti tona ahua.

Tauhohenga Gaucher pāpori. He aha te mea te reira?

whakaatu rangahau oraraa totiare e pūkete hoki iti iho i te 1% o te iwi te taupori o 100 000 iwi ki te whakapapa pathological e ai te mate. He maha ngā mea nui haere auau i roto i te taupori Hurai - manene i te rohe Pākehā Eastern. Na reira, kua riro te reira e Gaucher whakautu mahi mate tuku iwi kanohi. I roto i te meka, he faaiteraa pathological o te horapa kua te auau taua rite te hemophilia taua, me te tahi atu mate i roto i i pā ki lysosomes pūtau.

momo

Tohunga tautuhi e rave rahi ngā momo o te mate:

1. Te kore neuropathy - te ahua tino noa o te mate, i te hunga asymptomatic te nuinga o te iwi. Ki te whakaaturia te kaha paruparu o te tinana te tupu whakatere o kiko rerekē. I te wa ano, e kore e nga pūtau hawata pā te pūnaha io, me te roro.
2. Ki te mau faaiteraa neuropathic whakapeka - he momo tino onge o te mate. Āhuatanga e te takanga o pathologies neurological i roto i nga tau tuatahi o te ora. whakaatu tatauranga e waho tika tātaritanga wā me te whanaketanga o te whakaora te mate e tika ana puta i te aroaro o te tau o rua tau.
3. Ki te neuropathy ma'i - faaite te mate puhoi te ahunga whakamua o faaiteraa pathologic, i te aroaro o tohu neurologic o pūāhua āhua. I roto i te wāhanga i muri mai o te tupu o ngā pūtau hawata arata'i ki te hua i roto i te whekau, te hinga pūnaha romahā whakawhanake tupu. Kia pehea te nui mate ma'i mahi Gaucher whakautu? E whakaatu ana Sociology e te nuinga o tūroro ora ki pakeke.

tātaringa

Identification o hiahia pathological ki te whakahaere rangahau rauropi matatini. I roto i ngā, titau te tātaritanga tika he haerenga ki te toketā neave, he tākuta tamariki, he mātanga i roto i iranga. whakamahia tēnei wā tikanga whai hua ake, nga hua o nei e taea ki te tohu i roto i te whanaketanga o te mate:

1. Toto - tikanga tika tino tātaritanga e homai te taea ki te whakatau i te nui o glucocerebrosidase whākōkī arā, o te leukocyte mōkitokito me fibroblast.
2. tātaritanga DNA - heheu irakētanga pūtau ira. Ko taea tātaritanga i tenei tikanga ki runga ki te 90% i te wā o te whanaketanga o te kukune i roto i te kopu.
3. Wheua wheua whakamātautau - hāngai te i tāutu i āhuatanga o mate o huringa pathological i roto i te hanganga kiko. Ko te whakamahi o te huarahi tātaritanga hanga reira taea ki te whakaū i te mate, engari e kore e taea te whakatau i te reira i te wāhi o te pūtau - kawe o ira mutated.

Tohu me nga tohu o te mate

Mai tei tapaohia, i roto i nga tīmatanga o Gaucher Urupare asymptomatic. I roto i tenei take, e kore e te kore o te glucocerebrosidase whākōkī pā te whekau, me te pānga o te pūnaha io.

I roto i te mate atamira arā atu anō ko te whakapeka, pūāhua ahu whakamua. I tenei wā, mana'o te manawanui ahuatanga, wā mamae i mamae puku, mai pānga te tupu o ngā pūtau pathological matua te ate, me te kōateate. Ēnei tinana e nui haere i roto i te pukapuka, me te i roto i te ngaro o te tātaritanga tika, me te therapy maha e waiho i raro ki haehae kiko.

Ko te faaiteraa o Gaucher whakautu tenei. I roto i te pāpori, e kore e tenei wā tīari, ahakoa huru Uilla Smita i te kiriata "Arotahi" kī te ritenga atu.

E arata'i pinepine te te faaiteraa o tohu o te mate i roto i te kōhungahunga ki te whanaketanga o te mate wheua. whakawhanake āta wheua o tamaiti, i reira he takaroa i roto i te tupu me te hanganga o te tuahiwi.

Tauhohenga Gaucher: hinengaro

Ko tētahi o nga raruraru matua fehangahangai e te iwi i te mate ira - he huru o te ahuatanga whānui. Tenei, i roto i te tahuri, ai te rota katoa o raruraru hinengaro. Iwi e mamae i tenei mate i roto i te puka whakapeka, ite ngenge noa i muri okiokinga o te tonu po.

I roto i te tamariki, Gaucher whakautu ai te kore o te haamahu, me te kukū. Hoki tenei take, ko reira uaua ki te kōrero ki o rātou hoa, te tākaro ki te hoa, te tākaro hākinakina, ki te arotahi ki runga i te mahi ako, ki te whai wāhi i roto i te ora tūmatanui.

Arahina ki te ino i roto i te āhua hinengaro o kia huri ahua te manawanui. Ka taea e te tamaiti faa'oo tika ki iti tupu, tini, uaua underdevelopment. Iwi i raro ki faaiteraa o te mate i roto i te puka whakapeka, maha mamae i maioro raraunga waho e hiahiatia ana pikitia o koe. Āwhina ki te whakakore i te raruraru i runga, ko te ahei o te tohutohu hinengaro.

te mau hopearaa taea

Ki te kore maimoatia, Ko te tikanga he te pānga o te mate:

• toto auau i roto i nga whekau kūnatu;
• kino kiko ate me te kōateate;
• mamae laryngeal, tae noa ki te mutunga oti o manawa;
• te whanaketanga o te kore romahā, kakā auau;
• tukanga kino i roto i te akoranga o piere wheua;
• wheua mate wheua.

maimoatanga

E kore e pera i mua, therapy tā te tango anake o nga tohu matua o te mate. No te timatanga 90-doma o te rau tau whakamutunga rite te tikanga matua o te maimoatanga ki te whakamahi i whakakapinga fermentoterapii, e whai wāhi te whakataki ki te tinana o te glucocerebrosidase pūtau whakarerekētia. kape whākōkī Artificial te mahi o te wāhanga tūturu i roto i te toto whakakiia ana te hanganga me tona hē i roto i te tinana. Werohanga ki te ihirangi o te taonga e taea te whakakore i te tohu kino o te mate, me i roto i ētahi wā ki te aukati i te hanganga o ngā pūtau rerekē i roto i te whānui.

Ki te whakahaere i te huru whānui o te iwi mate whakaritea Pë. Ki te ahunga whakamua o te mate huihui ki te tango wahi o te ate kōateate ranei. I roto i ētahi wā, te whakaoti i te raruraru o te tuku i te transplant wheua wheua.

I roto i te mutunga

Gaucher Reaction - he aha te mea te reira? I taea te kite, te māuiuitanga ko te takahi feunga tohu kāore. I angitu maimoatanga tautuhi i māuiuitanga i te tīmatanga o nga wāhanga, kua kitea tika te tīmatanga wawe o te maimoatanga whakauru. Ko te whakautu kawea ki te raruraru arata'i ki te whanaketanga o pōauautanga nui, me te hua o te kore o te maimoatanga tika maha riro mate.