Ngā mea e hiahia ana koe kia mōhio mō te mate Alpers

Kāore he mamae nui atu mō te whaea, mō te pāpā rānei i te mātakitaki i tā rāua tamaiti e memeha haere ana i mua i ō rāua kanohi. Mēnā he tamaiti e oma haere ana, e takaro ana, ka tīmata ohorere te wiri i te āhua o te haurangi, te kite rānei i tana whakaaro me tana ako e memeha haere ana, he uaua ki te whakapuaki i te wehi me te ohorere e pā ana ki a koe. Koinei te mate kino rawa atu, tino onge hoki e kōrerohia ana e tātou i tēnei rā. Ko tēnei mate ko te Mate Alpers, ko te (Mate Alpers) rānei.

He aha te mate Alpers?

He mate ira onge te mate Alpers e pā ana ki ngā mitochondria, arā, ngā tipu hiko iti e whakakaha ana i ō tātou pūtau. Whakaarohia he maha ngā pākahiko iti kei roto i ia pūtau o tō tātou tinana, ā, ko aua pākahiko te mea e hoatu ana ki aua pūtau te pūngao e hiahiatia ana e rātou hei mahi. Ko te mea ka tupu i roto i te mate Alpers, kāore ēnei pākahiko, arā, ngā mitochondria, e mahi tika.

Ko te ngaronga o te pūngao ka pakaru i ngā okana tino nui e toru o tō tātou tinana.

1. Roro: Ka puta te mate wareware nā te ngoikore o te mahi a te roro, ka ngaro ai te mahara.

2. Ate: Tērā pea ka mutu katoa te mahi a te ate, ka arahi atu ki te ngoikore o te ate.

3. Ngā uaua: Ka puta pea ngā mate hopuhopu nā te mahi hiko rerekē i roto i te roro.

Ka puta pea ngā tohu o tēnei mate i ngā tau katoa, mai i te kotahi marama ki te 36 tau. Heoi, ka kitea nuitia i te tamarikitanga, inā koa i waenga i te 2 me te 4 tau. I ētahi wā, ka puta anō hoki tēnei mate i te wā taitamariki, arā, i waenga i te 17 me te 24 tau. Heoi, he mate tino kino tēnei, ā, he maha ngā wā ka mate.

Ko te mate nei i puta mai i tētahi hapa ira i riro mai i a tātou mai i te whānautanga. Ko te tikanga, ahakoa kei roto i te tinana o te tamaiti ngā ira mō tēnei mate i te whānautanga, ka roa pea ngā wiki, ngā marama, ngā tau rānei ka puta mai ngā tohu.

E mōhiotia ana te mate a Alpert e ētahi atu ingoa:

• Te mate Alpers-Huttenlocher
• Te mate Alpers
• Te mate poliodystrophy pēpi e ahu whakamua ana

Ko wai ka pāngia e tēnei mate? He pēhea te noa o tōna pānga?

Ka taea e te tangata e whiwhi ana i te ira hapa e puta ai te mate Alpers te pāngia e te mate. Ka pāngia ngā ira e rua, ahakoa te ira tangata.

Kaua e manukanuka, he mate tino onge tēnei. Ko te auau toharite he 1 i roto i te 100,000 . E kiia ana hoki he paku noa ake te kitea i waenga i te hunga nō te raki o Ūropi.

✨ Wellness care Verified Partner

Natural Pain and Sleep Wellness Care

Herbal wellness products for back pain, joint pain and insomnia.

Check Availability →

He aha te take e puta ai te mate a Alper? He aha te take?

Ko te take matua mō tēnei he panoni, he whakarerekētanga rānei, o tētahi ira e kiia nei ko te POLG1 i roto i tō tātou tinana. He mea tēnei e tukuna iho ana i tētahi whakatipuranga ki tētahi whakatipuranga.

I roto i ngā kupu māmā, penei te āhua. Hei whānau i tētahi tamaiti, me whiwhi koe i tētahi ira mai i tō whaea, me tētahi ira mai i tō pāpā. Hei whakawhanake i te mate Alpers, me whiwhi te tamaiti i te ira POLG1 hapa mai i te whaea me te pāpā. Ahakoa he kawe i te ira hapa ngā mātua e rua, kāore pea he tohu o te mate. Engari ki te whiwhi te tamaiti i ngā ira hapa e rua mai i a rāua, ka pāngia te tamaiti e te mate Alpers.

E ai ki tā tātou i kōrero ai i mua ake nei, nā tēnei hapa o te ira POLG1 ka kore e mahi tika te DNA i roto i ngā mitochondria, arā, ngā pokapū pūngao o ō tātou pūtau. Koia te take e tino pāngia ai ngā okana e hiahia ana ki te pūngao nui rawa atu, pērā i te roro, te ate, me ngā uaua.

E whakapono ana ētahi kairangahau mēnā ka pāngia te tangata e tuku iho ana i ēnei ira hapa e tētahi āhuatanga taiao, pērā i te huaketo, ka taea hoki e ia te whakawhanake i te mate.

He aha ngā tohu o tēnei mate?

Ka rerekē pea ngā tohu o te mate Alpers i roto i te wā. Ka taea te wehewehe i ēnei ki ngā tohu tōmua me ngā tohu e puta mai ana i te whanaketanga o te mate.

Ko te tohu tuatahi e kitea ana ko te mate haurangi uaua ki te whakahaere, he uaua ki te whakahaere mā te rongoā.

Kia mārama ake tātou ki ēnei tohu mai i te ripanga i raro nei.

Me pēhea te tautuhi a ngā tākuta i tēnei mate?

Ka tirotirohia e tō tākuta ngā tohumate o tāu tamaiti, me te aro nui ki ngā tohumate matua e toru i kōrerotia i mua ake nei : te ngaronga o te mahara, te mate ate, me te mate haurangi .

Hei tāpiritanga, he maha atu anō ngā whakamātautau ka mahia hei whakaū i te mate.

He rongoā kei reira mō tēnei?

Heoi anō, kāore anō kia kitea he rongoā hei whakaora i te mate a Alpert, hei aukati rānei i te haere whakamua o te mate.

Heoi anō, he maha ngā momo maimoatanga tautoko hei āwhina i te whakahaere i ngā tohu, te whakaiti i te mamae, me te whakapai ake i te kounga o te oranga. Tērā pea ka tūtohu tō tākuta i ngā maimoatanga pēnei i:

• Ngā rongoā hei whakahaere i ngā mate haurangi: Ka hoatu ngā rongoā ārai hapūtanga hei whakaiti i te putanga mai o ngā hapūtanga.
• Mō te kai me te wai: Mena he uaua ki te horomi kai, ka taea te whakauru i tētahi ngongo (percutaneous endoscopic gastrostomy) ki roto i tō puku hei whakarato kai me ngā wai.
• Kai: He iti te pūmua, he iti, he maha ngā kai.
• Whakaora tinana: Ngā mahi whakakori tinana me ngā maimoatanga hei whakaiti i te pakari o ngā uaua me te whakapakari i ngā uaua.
• Whakaora mahi: Te whakangungu ki te mahi takitahi i ngā mahi o ia rā.
• Whakaora kōrero: He āwhina ki ngā uauatanga kōrero.
• Ngā rongoā whakamamae me ngā rongoā whakangāwari uaua: Ka hoatu he rongoā hei whakaiti i te mamae me te pakari o te uaua.
• Tautoko manawa: Mena ka puta he uauatanga manawa, ka āwhinahia te manawa e ngā mīhini pēnei i te CPAP, BiPAP® rānei, mēnā e tika ana, mā te (tracheostomy).

Waihoki, ka whakahaerehia e tō tākuta ngā whakamātautau toto maha (pēnei i te Tau toto katoa - CBC, Whakamātautau mahi ate) i ia torutoru marama hei aroturuki i te āhua o te tūroro, hei whakarerekē hoki i te maimoatanga mēnā e tika ana.

Mena kei te tiaki koe i tētahi tamaiti mate...

E mōhio ana mātou he haerenga tino uaua tēnei. I te haere tonu o te mate, tera pea ka hiahia koe me tō tamaiti ki te tautoko tāpiri. He maha ngā tohunga me ngā ratonga ka taea te āwhina i a koe i tēnei haerenga.

• Ngā Tohunga: Ka taea e koe te rapu awhina mai i ngā tohunga puku, i ngā tohunga ate, i ngā tohunga kai, me ngā tohunga hinengaro.
• Ratonga Tiaki Kāinga: Mēnā he mate nui tō te tinana, ka taea te karanga i ngā kaimahi tiaki kua whakangungua kia haere mai ki tō kāinga ki te tiaki i tāu tamaiti.
• Ngā tīma tiaki mamae: Ka āwhina ēnei tīma ki te whakarato i te tautoko me te kaha hinengaro e hiahiatia ana hei pupuri i te tamaiti kia noho humarie, kia kore hoki e mamae i ngā wāhanga whakamutunga o te mate.

Kia maumahara, ehara i te mea ko koe anake. He rōpū tautoko kei reira mō ngā mātua o ngā tamariki e pāngia ana e te mate Alpers me ētahi atu mate mitochondrial. Ka taea e koe te whakawhitiwhiti wheako, te whakawhitiwhiti rauemi, me te tiki i ngā tohutohu e hiahiatia ana e koe.

He mate haere tonu te mate a Alpert e puta ana i waenga i te 4 me te 10 tau i muri i te tīmatanga o ngā tohu.

Ki te mōhio koe kei roto i tō whānau tēnei ira, ā, kei te hapu koe, he mea nui kia tūtaki koe ki tētahi kaitohutohu ira me te kōrero ki a ia. Mā rātou koe e whakarato ki ngā tohutohu me te tautoko e hiahiatia ana e koe.