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.
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.
| Momo tohu | Ngā mea hei tiro |
|---|---|
| Ngā tohu matua me ngā tohu tuatahi |
|
| Ētahi atu tohu tōmua | |
| Ngā tohu e puta ana i te whanaketanga o te mate |
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.
| Whakamātautau | Me pēhea te mahi me ngā mea hei mōhio |
|---|---|
| Te tātaritanga wai cerebrospinal | Ko te tāmitanga tuaiwi he werohanga i tētahi ngira iti rawa ki roto i tō tuara o raro, ā, ka tangohia he wai iti e karapoti ana i tō roro. Ka whakamātauria tēnei wai kia kitea ai mēnā he ngoikoretanga kei roto i ētahi matū roro. |
| Whakamātautau EEG `(Electroencephalography)` | Ka tāpirihia ngā pereti whakarewa iti (ngā irahiko) ki te angaanga hei ine i te ngohe hiko o te roro. Ka taea e te whakamātautau EEG te whakaatu kua puhoi te ngohe o te roro o te tangata whai mate Alpers. |
| Whakamātautau ira | Ka tangohia he tauira toto, ā, ka whakamātauria te raupapatanga o ngā ira. Mā tēnei ka taea te tautuhi tika mēnā he whakarerekētanga ira kei roto i te ira `POLG1`. |
| Matawai MRI `(Whakaahua Āhua Aukume)` | Tērā pea ka kitea i roto i te matawai MRI o te roro te pikinga o te mea hina i roto i te roro o te tangata e pangia ana e te mate Alpers. |
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.
Karere Tangohia ki te Kāinga
- He tino onge, he kino hoki te mate Alpers, he mate ira e pā ana ki ngā mitochondria.
- Ko te roro, te ate, me ngā uaua te nuinga o te pānga ki tēnei, ā, ko ngā tohu matua ko te mate haurangi, te ngoikore o te ate, me te ngaronga o te mahara.
- Ahakoa kāore he rongoā mō te mate, he maha ngā maimoatanga tautoko e wātea ana hei whakahaere i ngā tohu me te whakamarie i te tūroro.
- Nā te mea he mate ira tēnei, kāore he huarahi hei whakaiti i te mōrearea. Mena he hītori whānau, he mea tino nui te tohutohu ira.
- He mahi tino uaua te tiaki i tētahi tamaiti mate pēnei, nō reira mā te rapu tautoko mai i ngā tākuta, i ngā ratonga nēhi, me ngā rōpū tautoko koe e āwhina.
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