He makawe miro miro tō tāu tamaiti? Me ako tātou mō te Mate Menkes!

Kua kite koe i tētahi wā he tino rerekē te makawe o tāu pēpi, he miro, he rite ki te waea, he mārama te tae, ā, he ngāwari te whati? He tino wetekina, he makariri rānei te tinana o tāu pēpi? Ahakoa he mea ēnei kāore tātou e aro nui ana ki ētahi wā, he tohu tuatahi pea ēnei o ētahi mate onge. Hei tauira, ko tētahi mate ka pā ki ngā pēpi, engari kāore i te tino kōrerohia, e kiia ana ko te Mate Menkes. Me kōrero tātou mō tēnei i tēnei rā.

He aha te mate Menkes? He māmā noa iho...

He mate ira te mate a Menke. Ko tōna tikanga ka whānau mai he pēpi me tēnei mate. Ko te mea ka puta i tēnei, kāore e taea e te tinana te whakamahi tika i te matūkai nui o te parahi . Inaianei kei te whakaaro pea koe, "He aha te mahi a te parahi?" Inaa, he mea te parahi e āwhina ana i ngā pūnaha nui o te tinana ki te mahi tika. Whakaarohia:

• Me mahi tika tā tātou pūnaha io (arā, te roro me ngā io e rere ana puta noa i te tinana).
• Kia kaha tonu ō tātou wheua .
• Kia ora ō tātou makawe me tō tātou kiri.
• Me mahi tika ō tātou uaua toto (te wāhi e rere ai te toto).

He mea nui te parahi mō ēnei mea katoa. Nō reira, nā te mea kāore te tinana o te pēpi e pangia ana e te Mate Menkes e whakamahi tika i tēnei parahi, ka pā he kino nui ki te pūnaha io. Ka whakaroahia te tipu o te pēpi, ka ngoikore hoki te tinana. Ko te mea pouri, ka taea e tēnei mate te whakararu i te ora .

I roto i tēnei mate, ka huri te makawe o te pēpi hei mea miro, ā, ka rite ki te waea, nō reira ka kiia e ētahi ko te "mate makawe kukū".

Ko te mea nui, kāore anō kia kitea he rongoā katoa mō tēnei mate. Heoi, ki te tīmatahia te maimoatanga parahi i roto i ngā wiki tuatahi e whā o te whānautanga o te pēpi, ka taea te whakamama i ngā tohu me te whakaroa i te oranga o te pēpi. Nō reira, he mea tino nui te tautuhi wawe i te mate.

He pēhea te noa o te mate Menkes?

I te ao whānui, i whakaarohia i mua ko te kotahi i roto i te 100,000 pēpi hou ka pāngia e tēnei mate. Koia tērā ko te kotahi i roto i te rua miriona me te hawhe.

Heoi, i kitea i roto i tētahi rangahau hou i te tau 2020 mā te whakamahi i ngā raraunga mai i te Genome Aggregation Database, tera pea ka nui ake tēnei tau. Nō reira, e kiia ana kotahi i roto i te 8,664 tamariki tāne i te United States anake, arā, tata ki te 225 pēpi ia tau, ka pāngia pea e tēnei mate.

Ki te whakawhanakehia ngā tikanga tirotiro mō ngā pēpi hou ā muri ake nei, ka whakaūtia anō ēnei tatauranga, ā, ka taea te tautuhi wawe i te mate me te tīmata maimoatanga.

Ko wai te mea tino tūpono ka pāngia e tēnei mate?

He nui ake te kitea o te mate Menkes i roto i ngā tama.Koinei te mea e tino pāngia ana. Engari ka taea te pā ki tētahi iwi, ki tētahi rōpū iwi rānei.

He aha ngā tohu o te mate Menkes?

I ētahi wā ka whānau wawe ngā pēpi e pangia ana e te mate Menkes. Tērā pea te āhua nei he hauora tonu rātou i te whānautanga.

Heoi, ka tīmata ngā tohu tuatahi ki te puta i te 2 ki te 3 marama te pakeke . Ko ēnei:

• Ko te makawe pīrori he momo makawe miro, he kikokore, he piupiu. He tino mārama te tae o tēnei makawe, he mā, he hina rānei i ētahi wā. Ka ngāwari hoki te whati.
• Te ngoikore o te uaua (Hypotonia): Ko te tikanga tēnei he ngoikore rawa te tinana o te pēpi. Te āhua nei kāore he ora.
• Te iti o te pāmahana tinana (Hypothermia): Ka mātao tonu te tinana o te pēpi.
• Ka piko te āhua o te mata .
• Ngā tohu o te mate haurangi (ngā mate haurangi/mate haurangi) , arā, ngā āhuatanga pērā i te mate haurangi.
• Te puhoi o te tipu me te kore e tupu pai: Kāore te pēpi e tipu tika ana, ā, kāore e piki ana tōna taumaha .
• Te kōwhai o te kiri me ngā kanohi (te jaundice).

Kāore ēnei tohu e puta i roto i ia pēpi i te wā kotahi. I ētahi wā, ahakoa he tino onge, ka puta pea ēnei tohu i muri mai i te tamarikitanga, i te taiohitanga rānei.

He aha ngā raruraru ka pā mai i te mate Menkes Syndrome?

Ko te Menkes Syndrome he mate neurodegenerative e whakangaro haere ana i te pūnaha io . Ko te tikanga o tēnei, i roto i te wā, ka puta ngā raruraru hinengaro i roto i te roro me ngā pūkenga whakaaro. Ka taea e ngā tamariki me ngā pakeke e pāngia ana e tēnei mate te whakawhanake i ngā raruraru pēnei i:

• Ngā raruraru pēnei i te totohu o te roro (ngā hematoma subdural) .
• Ko te diverticulosis te whanaketanga o ngā putea iti e puta mai ana i ngā pakitara o te whekau, o te pūkahukahu rānei.
• Te hanganga o ngā wheua tino iti (ngā wheua Wormian) i roto i te angaanga.
• Te ngaronga o ngā pūkenga nekenekehanga .
• Ko te osteoporosis he mate e ngoikore ai, e pakarukaru ai ngā wheua , ā, ka māmā ake te whati.
• Te mate piko o te uaua .

He mea nui tēnei hei kōrero māu. I ētahi wā, ina toto te roro o te pēpi, ina whati rānei ōna wheua, ka whakapae pea ngā tākuta kei te tukinotia te tamaiti. Ki te mōhio koe kei roto tō tamaiti i tētahi taiao haumaru, engari kei te whakaatu rātou i ēnei tohu, me kōrero ki tō tākuta, me te matapaki kia whakamātauria mō te mate Menkes.

He aha te Mate Pūngāwerewere o te Haona o te Tua (OHS)?

Ko te Mate Haona Pokipō (OHS) he momo ngawari ake o te Mate Menkes.Ko te tikanga o tēnei, kāore ngā tohu i te tino kino. I te nuinga o te wā ka kitea te mate ina kei waenga i te 5 me te 10 tau te pakeke o te tamaiti.

Haunga ngā tohu ngawari o te mate Menkes, ka pāngia pea ngā tamariki whai OHS e:

• Ngā haona pito o te angaanga: He hanganga rite ki te haona ēnei i hangaia e ngā putunga konupūmā i te pūtake o te angaanga.
• Dysautonomia: He raruraru ki te pūnaha io e pā ana ki ngā mea pēnei i te toto totoka me te taurite o te tinana.
• Te wetewete o ngā hononga me te kiri.
• Ngā raruraru iti o te kaha whakaaro.

He aha te take o te mate Menkes?

E ai ki tā mātou i kōrero ai i mua ake nei, he mate ira te Mate Menkes. Arā, kei te whānau mai anō. I roto i te rua hautoru o ngā take, ka puta mai i tētahi ira hapa i tukuna iho mai i te whaea . I roto i te kotahi hautoru o ngā take, ka puta te mate i ngā whakarerekētanga hou i roto i te ira e kiia nei ko te ATP7A.

Ko te ira e puta ai tēnei mate ko te 'ATP7A', e pā ana ki te whakaputanga o te pūmua e whakahaere ana i te nui o te parahi i roto i tō tātou tinana. Nō reira, ina kore e mahi tika tēnei ira 'ATP7A', kāore e taea e tō tātou tinana te 'kawe' tika i te parahi.

He nui ake te tūponotanga ka riro i ngā tama tāne tēnei ira nā te mea he mate ira hono-X te Menkes Syndrome. Kotahi te ira X a ngā tama. Nō reira, ki te mea he ira hapa kei runga, ka puta te mate. E rua ngā ira X a ngā kōtiro, nō reira, kia puta ai te mate, me tuku iho ngā ira hapa e rua.

Me pēhea te tautuhi a ngā tākuta i te mate Menkes?

Hei tātaritanga i te mate Menkes, ka tirohia tuatahitia te tamaiti e te tākuta. Ina koa, ka aro nui rātou ki ngā makawe pakarukaru, miro . Ka pātai atu hoki rātou mō ngā tohu me te hītori hauora o te whānau. Tērā pea ka whakamātauria te tamaiti mō:

• Ngā whakamātautau toto: Ka tangohia he tauira toto hei tirotiro mēnā he iti te taumata o te parahi, te ceruloplasmin (he pūmua e kawe ana i te parahi), me ngā catecholamines, arā, ngā homoni e āwhina ana ki te whakahaere i te nekehanga o ngā uaua me ngā kare ā-roto.
• Matawai CT, hihi-X rānei: Mā tēnei ka rapua ngā wheua iti, piko (ngā wheua kutukutu) i roto i te angaanga o te tamaiti. Ko ēnei mea ka puta mai i ngā raruraru o te kiko honohono nā te kore o te parahi.
• Kohikohi kiri: Ka tangohia he tauira iti rawa o te kiri o te tamaiti, ka tirotirohia i raro i te karu hiko hei tirotiro i te pai o te whakamahinga a te tinana o te tamaiti i te parahi.
• Ultrasound: Ka whakamahia tēnei hei tirotiro i te pūkahukahu. Ko ngā diverticula, arā, he putea e puta mai ana i te pūkahukahu, he raruraru noa iho o te Menkes Syndrome.
• Whakamātautau mimi: Ka tirohia e tēnei whakamātautau te pikinga o ngā taumata o ētahi waikawa (HVA/VMA) i roto i te mimi. Ka rerekē te nui o ēnei waikawa i runga i te mahi a te whākōkī e whakawhirinaki ana ki te parahi.

Ka taea e taku tamaiti te whai whakamātautau ira mō te mate Menkes?

Kei te rapu tonu ngā kairangahau i ngā huarahi hou hei kite wawe i te mate Menkes. Ko te whakamātautau ira e rapu ana i ngā whakarerekētanga ira i roto i te ira ATP7A tētahi huarahi hei mahi i tēnei.

Me pēhea te rongoā a ngā tākuta i te mate Menkes?

Kia tino whai hua ai te maimoatanga, me tīmata i roto i ngā rā 25 ki te 28 o te whānautanga . Ko te angitu o te maimoatanga e whakawhirinaki ana ki te kaha o te whakarerekētanga ira i roto i te ira 'ATP7A'.

Ka hoatu e ngā tākuta he whakakapinga parahi ki ngā tamariki e pangia ana e te mate Menkes, ko te histidine parahi te ingoa, hei werohanga i raro i te kiri . Ko te whāinga o tēnei maimoatanga he whakanui ake i te nui o te parahi i roto i te toto. Ka taea hoki e ia te āwhina ki te whakaiti i te kino ki te pūnaha io, te whakaiti i ngā āhuatanga pēnei i te haurangi, me te whakaroa i te roanga o te oranga o te tamaiti.

Me pēhea taku whakahaere i ngā tohumate o taku tamaiti?

Nā te mea kāore anō kia rongoātia te mate Menkes, ka arotahi ngā tākuta ki te whakahaere i ngā tohumate. Tērā pea ka mahi te tīma hauora e rongoā ana i tāu tamaiti i ngā mea penei:

• Te whakarite rongoā hei whakahaere i ngā hopukanga.
• Ko te kai enteral ko te whāngai i te kai mā roto i tētahi ngongo hei āwhina i te tamaiti kia pai ake te mimiti i ngā matūkai.
• Te taunaki i te whakaora tinana, i te whakaora mahi rānei .
• Te tohu rongoā mamae .

He aha te heke mai mō te hunga e pāngia ana e te mate Menkes?

Ki te kore e tīmata wawe te maimoatanga, ko te nuinga o ngā tamariki e pangia ana e te mate Menkes ka iti iho i te toru tau te roa .

Ahakoa te rongoā, ka kino haere tonu ngā tohu o te mate Menkes i te roanga o te wā. Ahakoa ngā tama tāne e pangia ana e te mate e whiwhi rongoā ana, ka ora pea rātou mō te 10 tau, iti iho rānei.

Ka taea te ārai i te mate Menkes?

Engari, kāore e taea te ārai i te mate Menkes. Mena he mema o te whānau, he tamaiti rānei tōu e pāngia ana e tēnei mate, he mea nui kia kōrero koe ki te tākuta me te whiwhi tohutohu ira .

I mua i tō haputanga, ka taea e koe te whakahaere i tētahi whakamātautau ira (whakamātautau ira / whakamātautau DNA) hei kimi mēnā kei a koe te ira e puta ai te mate Menkes. Ka taea e ēnei mōhiohio te āwhina i a koe i te wā e whakamahere ana i tētahi whānau.

Āhea koe me toro atu ki te tākuta mō te mate Menkes?

Ki te whakaaro koe kei tāu tamaiti ngā tohu o te mate Menkes, me toro atu ki te tākuta tonu . Mā te kitenga wawe ka pai ake te kounga o te oranga mō ngā tamariki e pāngia ana e tēnei mate.

Nā te mea ka tukuna iho te mate Menkes mā te ira-X, ka taea e ngā wāhine te whakamātautau DNA hei kimi mēnā kei a rātou te ira e puta ai te mate. He mea pai kia kōrero ki tō tākuta mō te tohutohu ira i mua i te whānau tamariki.

Mena kei te pāngia tāu tamaiti e te mate Menkes, kōrero ki tō tākuta mō ngā huarahi pai hei whakahaere i ngā tohu me te whakapai ake i tō kounga o te oranga. Ahakoa kāore he rongoā mō te mate Menkes, kei te kaha ngā tākuta ki te kimi huarahi hou hei tātaritanga me te rongoā i te mate. Waihoki, he huarahi pai te whakauru atu ki ngā rōpū tautoko mō ngā mātua o ngā tamariki e pāngia ana e te mate Menkes ki te whakawhitiwhiti wheako me te kimi whakamarie.

Ngā mea tino nui hei maumahara (Karere hei kawe ki te kāinga)

Āe, me whakarāpopoto e tātou ētahi o ngā mea hei maumahara māu mai i ngā mea kua kōrerohia e tātou:

• Ko te mate Menkes he mate ira e kore ai te tinana e whakamahi tika i te parahi.
• He mea noa ake tēnei i roto i ngā tama .
• Mena kei te miro haere te makawe o tō pēpi, kua mārama te tae, kua marara noa, kua puhoi rānei te tipu, rapua tonutia he tohutohu hauora.
• He mea tino nui kia tautuhia te mate, kia tīmata wawe hoki te maimoatanga . He mea pai kia tīmata te maimoatanga i roto i ngā wiki tuatahi e 4 o te whānautanga.
• Ahakoa kāore he rongoā katoa, kei reira ngā maimoatanga hei whakahaere i ngā tohu me te whakaroa i te oranga .
• Mena he hītori whānau tōu kua pāngia e ēnei mate, he mea whakaaro nui kia rapu tohutohu ira .

Ko tāku tumanako he whai hua ēnei mōhiohio ki a koe. Mēnā he ruarua āu, kāore he wā roa ki te kōrero ki te tākuta.

Mate Menkes, Parahi, Ngā mate ira, Ngā mate tamariki, Pūnaha io, Makawe miro, ATP7A