He aha te take kāore e taea e tō tinana te mimiti i ngā hinu me ngā huaora? (Abetalipoproteinemia)

Kua whakaarohia e koe he aha ngā raruraru ka puta mai mēnā kāore e taea e te tinana te mimiti i ngā matūkai e hiahiatia ana e ia mai i ngā kai e kainga ana e tātou, inā koa ngā ngako me ētahi huaora? I tēnei rā ka kōrero tātou mō tētahi mate ira onge engari he mea tino nui. Ko te mea ka tupu, kāore e taea e tō tātou tinana te mimiti tika i ngā ngako me ngā huaora wairewa-ngako. Me titiro tātou ki tēnei mate, he aha i puta ai, me ngā mea ka taea te mahi mōna.

He aha te Abetalipoproteinemia?

He kupu ngāwari noa iho, he mate ira tino onge te abetalipoproteinemia. He āhuatanga tēnei e kore ai e taea e tō tinana te mimiti tika i ngā ngako (hinu) me ētahi huaora i roto i te kai e kainga ana e koe. Nā te mea kāore e taea e tō tinana te whakaputa i ngā ngota motuhake e kiia nei ko ngā lipoproteins e kawe ana i te ngako, te cholesterol, me ngā huaora wairewa-ngako (pērā i ngā huaora A, D, E, me te K) puta noa i tō tinana.

Whakaarohia pēnei, he rite ēnei 'lipoproteins' ki ngā waka e kawe ana i ngā matūkai i roto i ō tātou tinana. Nō reira, ina ngaro ēnei waka, kāore e haere ngā ngako me ngā huaora ki te wāhi e tika ana kia haere ki roto i te tinana. Ko te mutunga iho he korenga o ngā ngako me ngā huaora, inā koa ngā huaora A, D, E, me K. Ka taea e tēnei korenga te whakararu i ngā momo raruraru hauora.

He aha te mea e tupu ana i tēnei āhuatanga?

Whakaarohia pēnei: ​​ina kai koe i te kai, me mimiti te ngako me ngā huaora wairewa-ngako i roto i te toto mai i ngā whekau ki roto i te toto. Ko reira anake ka taea ai te mimiti ki roto i te toto, ka haria puta noa i te tinana me roto i ngā pūtau. Ka āwhinahia tēnei e ngā lipoproteins kua whakahuatia ake nei. I roto i te tangata he abetalipoproteinemia, kāore ēnei lipoproteins e hangaia tika, nō reira kāore he ara mō te ngako me ngā huaora ki te haere mā roto i ngā whekau.

Ko ngā raruraru matua i puta mai i tēnei

Ina ngaro ēnei 'lipoproteins', ka puta pea ētahi raruraru nui:

• Te ngoikore o te ngako: Ka puta pea ngā āhuatanga pēnei i te mate korere, ka arahi pea ki te pupuhi, te ngaronga taumaha, me te kore kai pai.
• Te korenga o ngā huaora: Ka puta he maha ngā raruraru. Kei roto i ēnei ko ngā raruraru tirohanga, ngā raruraru pūnaha io, me te ngoikore o ngā uaua.
• Acanthocytosis: He kupu uaua tēnei, kāore? Ki te whakarāpopoto, he rerekē te āhua o ō toto whero, pērā i te whetū he tataramoa, he mea pērā rānei. Ka kiia tēnei ko te "Acanthocytosis." Ka taea e tēnei te arahi ki te anemia. Ko te tikanga tēnei kāore i te nui ngā toto whero hauora o te tinana.

He mate kino te Abetalipoproteinemia ka pā mai he raruraru hauora nui.Kāore he rongoā i tēnei wā. Heoi, mā te maimoatanga tika , ka taea te whakahaere i ngā tohu, ā, ka taea hoki te ārai i ngā raruraru. Ko te tikanga, ko te maimoatanga he kai iti-ngako, he tāpiringa huaora, me ngā momo rongoā e aro ana ki ngā tohu motuhake.

He aha te āhua o ngā tohu?

Ko ngā tohu o te 'Abetalipoproteinemia' ka tīmata i te wā pēpi. Whai muri i te whāngai ū, ka ruaki pea tō pēpi, ka korere, ka kakara kino hoki ngā tūtae momona, kakara kino (steatorrhea) (e kiia ana tēnei e mātou ko te "steatorrhea," ko te tikanga he paru, he hinuhinu, he mānu i ētahi wā, ā, he kakara kino paku). I muri i tētahi wā, ka kite pea koe kāore tō pēpi e piki haere ana te taumaha, e tipu ana rānei pērā i te mea e tumanakohia ana. E kiia ana tēnei ko te ngoikore o te tipu .

I roto i ngā pakeke, ka pāngia ngā pūnaha tinana e te abetalipoproteinemia, he ngoikore huaora. Ko te tohu tuatahi pea ko te ngaronga o ētahi o ngā uruparenga. Ko ētahi atu tohu pea ko:

• Te wiri o ngā uaua, te ngoikore, me te mamae.
• Te ngenge, te poto o te manawa, te tere rānei o te pao o te ngakau.
• He pikinga o te piko o tō tuara o raro (lordosis) he pikinga rānei o te piko o tō tuara o runga (kyphoscoliosis). He huringa ēnei o te āhua o tō tuaiwi.
• He uaua ki te whakataurite i te mahi a ngā uaua. Ka puta pea he nekehanga rerekē, kāore e taea te whakahaere i te wā e hikoi ana, e mahi ana rānei i ngā mahi. Ka kiia tēnei ko te ataxia .
• Te kōrero pōturi nā te uaua ki te whakahaere i te arero, i te reo rānei. Ka kiia tēnei mate ko te dysarthria .
• Ngā raruraru tirohanga: Ngā āhuatanga pēnei i te strabismus, ngā nekehanga kanohi kāore i te whakahaeretia (nystagmus), te retinitis pigmentosa rānei, he mate e whakaiti ana i te tirohanga pō.
• Ko te mate toto korekore he āhuatanga e heke ai te nui o ngā toto toto whero hauora i roto i te tinana, ka puta ai te ngenge me te ngoikore.
• Te kōwhai o te kiri, te mā rānei o ngā kanohi (te jaundice).
• Pupuhi, pupuhi.
• Te pakaru o te roro i roto i te wā.

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Me pēhea te whanaketanga o tēnei mate?

Ko te Abetalipoproteinemia te take o te whakarerekētanga o te ira MTTP. Ka tohutohu te ira MTTP i tō tātou tinana kia hanga he pūmua e kiia nei ko te microsomal triglyceride transfer protein (MTP). He mea nui tēnei pūmua MTP mō te hanga i ngā lipoprotein kua whakahuatia ake nei i roto i tō tātou ate me ō tātou whekau.

Take ira

Tērā pea ka mahara koe he mea nui ngā lipoprotein hei kawe i te ngako, te cholesterol, me ngā huaora wairewa-ngako mai i ngā whekau ki roto i te toto. Kātahi ka haria e te toto ēnei lipoprotein puta noa i te tinana kia taea ai e ō tātou kiko te mimiti i ēnei matūkai nui.

Nō reira, ina puta he panoni i roto i te ira MTTP, kāore e taea e te tinana te whakaputa i te pūmua MTP. Ina kore e ranea te pūmua MTP, kāore e taea e te tinana te kawe i te ngako mā roto i ngā pūtau puku. Tuarua, ka pā tēnei ki te whakaputanga o ngā lipoproteins, e ārai ana i te kawe tika me te mimiti o ngā matūkai. Nā ēnei ngoikoretanga kai ka puta ngā tohu o te Abetalipoproteinemia.

Me pēhea te haere mai i tētahi whakatipuranga ki tētahi whakatipuranga

Ka tukuna iho te Abetalipoproteinemia i roto i ngā whānau i roto i te tauira autosomal recessive. Ko te tikanga o te autosomal recessive he tārua kei ngā mātua e rua o te ira kua whakarerekētia, ā, ka riro i te tamaiti. Heoi, kāore he tohu o te Abetalipoproteinemia i aua mātua. Ko te tikanga he kaikawe noa iho rātou i te mate. Kia pāngia ai te tamaiti e te mate, me riro i ngā mātua e rua te ira hapa.

Me pēhea te tautuhi i te mate?

Mā tō tākuta e tātari te abetalipoproteinemia mā te whakamātautau tinana. Ka pātai atu ia ki a koe mō ō tohu me tō hītori hauora. Ka whakahaua hoki e ia ngā whakamātautau toto hei rapu i ngā tohu o te mate. Ka tirohia e ēnei whakamātautau ngā taumata o ngā ngako i roto i tō toto toto (e kiia ana ēnei he taumata lipid) me ngā lipoprotein. Ka tirohia hoki e ia te āhua me te hanganga o ō toto whero (kia kite ai mēnā he mate tōu e kiia nei ko te acanthocytosis), te mahi a te ate, me ngā taumata o ngā huaora wairewa-ngako (ngā huaora A, D, E, me te K).

Ko ētahi atu whakamātautau e hiahiatia ana ko:

• He whakamātautau kanohi.
• He whakamātautau io.
• Endoscopy (he whakamātautau e titiro ana ki roto i ngā whekau).
• He matawai ultrasound o te ate.
• He whakamātautau tūtae, ina koa kia kitea ai te nui o te ngako e tukuna ana i roto i te tūtae.

Hei tāpiri, ka tūtohu pea tō tākuta kia whakamātauria he whakamātautau ira hei tirotiro mēnā he whakarerekētanga ira tōu i roto i te ira MTTP.

He aha ngā maimoatanga?

Ko te maimoatanga mō te abetalipoproteinemia e arotahi ana ki ō tohumate motuhake. Me mahi tahi koe me tētahi rōpū o ngā kaiwhakarato hauora rerekē. Kei roto i ēnei ko:

• Ngā tohunga roro.
• Ngā tākuta e tohunga ana ki ngā mate ate (ngā tohunga hepatology).
• Ngā tohunga kanohi (ngā tākuta kanohi).
• Ngā tohunga e ako ana i ngā ngako (ngā tohunga lipid).
• Ngā tākuta ngakau.
• Ngā tohunga wheua.
• He tohunga ngā tohunga gastroenterologist ki te pūnaha nakunaku.
• Ngā tohunga kai.

Te maimoatanga pēpi

Mō ngā pēpi, ka whakarite te tākuta kia tipu me te whanake noa.Tērā pea ka tūtohutia he kai e nui ana i ngā triglycerides mekameka-waenga (MCT) me ētahi huaora motuhake. Kāore ēnei momo ngako, e kiia nei ko ngā MCT, i rite ki ētahi atu momo ngako, ā, he māmā ake te mimiti e te tinana.

Te maimoatanga mō ngā pakeke

Mō ngā pakeke, he pai te kai i ngā kai hauora e iti ana te waikawa ngako mekameka roa . Mā tēnei ka āwhina i te whakamamae i ō tohumate puku (te mamae o te puku). Hei tauira:

• Heihei, tāki, me ētahi atu mīti kikokore.
• Ika.
• Pīni maroke, pī, rēneti.
• Miraka kore-ngako, iti-ngako rānei, tīhi kātihi, miraka kawa.
• Ngā hua me ngā huawhenua.
• He taro witi katoa, he rimurapa, he pata, me te raihi.

Waihoki, ka tūtohu pea tō tākuta kia tangohia he nui o ngā huaora wairewa-ngako (pēnei i ngā huaora A, E, D, me K) . Ka āwhina tēnei ki te ārai, ki te whakapai ake rānei i te nuinga o ō tohumate. Hei tauira, ka taea e te maimoatanga huaora E me te huaora A te ārai, te whakaroa rānei i ngā raruraru o te pūnaha io me te retina. Ka taea e te tango i ngā tāpiringa huaora D te āwhina ki te whakaora i ētahi tohumate e pā ana ki te tipu o te wheua.

Te maimoatanga o ngā raruraru pūnaha io

Tērā pea e hiahiatia he maimoatanga mō ngā raruraru o te pūnaha io pērā i te whakaora tinana, te whakaora kōrero, te whakaora mahi rānei.

He aha ngā tūponotanga o te whakaoranga?

Ko te tirohanga (matapae) mō te whakaoranga mai i te abetalipoproteinemia e whakawhirinaki ana ki ētahi āhuatanga, tae atu ki:

• Te pakeke i te wā i kitea ai te mate.
• Kua tae ki te wā hei tīmata i te maimoatanga.
• Te momo whakarerekētanga ira MTTP.

Mā te tātaritanga wawe me te maimoatanga me ngā tāpiringa huaora ka ārai, ka whakaroa, ka whakaiti rānei i ngā raruraru. Ka taea hoki e ia te whakapai ake i te roanga o te oranga. Ka taea e ētahi tāngata te ora tae noa ki te 70 tau. Ki te kore e rongoatia, ka mate pea rātou i roto i te 20 tau nā te korenga o ngā kai.

Ka taea te ārai i tēnei?

Nā te mea he mate ira te abetalipoproteinemia, kāore e taea te ārai. Mena kei te hapu koe, kei te whakaaro rānei kia hapu, he mea pai kia rapu tohutohu ira koe kia mōhio ai koe ki te tūponotanga o te tuku i te mate ki tāu tamaiti.

Ngā mea kāore e tika ana kia kainga e koe me tēnei mate

Mena kei a koe te "Abetalipoproteinemia", me whakawhāiti e koe te kai ngako (hinu). Ko te kai ngako katoa mō te pakeke me iti iho i te 15-20 karamu ia rā. Mō ngā tamariki, me iti iho i te 5 karamu ia rā. Mā tō tākuta, mā tō kaiora rānei koe e tohutohu atu ki a koe me aha koe.

Āhea koe me toro atu ki te tākuta?

Mena kei a koe, kei tāu tamaiti rānei ngā tohu o te "Abetalipoproteinemia", me toro atu koe ki te tākuta. Ahakoa he rite ngā tohu o tēnei mate ki ērā o ētahi atu mate, ka taea e tō tākuta te whakahaere i ngā whakamātautau hei whakaū i te mate me te tīmata i te maimoatanga.

Ngā pātai hei pātai atu ki tō tākuta

Mena he abetalipoproteinemia tōu, he maha pea āu pātai hei pātai atu ki tō tākuta. Ko ētahi o ēnei:

• Kia pēhea te kaha o taku mate Abetalipoproteinemia?
• He aha te pānga o tēnei āhuatanga ki ahau mō te wā roa?
• He aha te mahere maimoatanga kua tūtohutia mōku?
• He aha ngā huaora me ngā tāpiringa motuhake me tango e au, ā, kia pēhea te roa?
• Me huri taku kai?
• He aha ngā raruraru pea ka pā mai i te "Abetalipoproteinemia"?
• He aha taku e taea ai te ārai i ēnei raruraru?
• He rōpū tautoko, he rauemi rānei kei te wātea hei āwhina i te hunga e pāngia ana e te abetalipoproteinemia?

Hei whakamutunga, kia mahara ki tēnei.

He uaua pea te mate Abetalipoproteinemia. Heoi, he mea nui kia mahara kei reira ngā maimoatanga whai hua e wātea ana. Mā te whakahaere tupato mā te kai iti-ngako, ngā tāpiringa huaora, me ētahi maimoatanga, ka taea e koe te whakapai ake i tō kounga o te oranga me te ārai i ngā raruraru. He maha ngā tāngata e pāngia ana e te abetalipoproteinemia e ora ana i te oranga tino pai me te whai hua. Ko te mea nui ko te mahi tahi me tō tākuta ki te whakawhanake i tētahi mahere maimoatanga e tutuki ai ō hiahia. Kaua e mangere ki te pātai me te kōrero mō ō wehi i a koe e haere ana. Kāore koe i te mokemoke, ā, kei konei ngā tākuta hei āwhina.

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