Kua rongo koe i te mate Pompe? Me kōrero taipitopito tātou mōna!

Kua rongo koe i tētahi mate he ingoa tauhou tōna, ko te Mate Pompe te ingoa? Tērā pea he ingoa hou tēnei ki a koe. He tino onge tēnei, arā, ehara i te mate e pāngia ana e te katoa. Engari he mea nui kia mōhio koe ki tēnei mate, nā te mea he mate ira, arā, ka tukuna iho i roto i ngā whakatipuranga. Ka puta he momo huka e kiia nei ko te `(glycogen)` ki roto i ngā pūtau o tō tātou tinana. Nō reira, i tēnei rā ka kōrero noa tātou mō te aha tēnei mate Pompe, me pēhea te whanaketanga, he aha ngā tohu, ā, he rongoā anō hoki.

He aha te mate Pompe?

He whakarāpopototanga noa iho, ko te mate Pompe he mate ira e pā ana ki te rōpū mate rokiroki glycogen. Kei roto i tō tātou tinana he whākōkī e kiia nei ko te `(acid alpha-glucosidase)`, ko te `(GAA)` rānei. Ka wawahia e tēnei whākōkī te huka matatini `(glycogen)` i roto i tō tātou tinana, arā, ka nakunaku, ka āwhina i te whakaputa pūngao. Nō reira, kāore te tangata whai mate Pompe e whakaputa tika i tēnei whākōkī `(GAA)`, he iti noa iho rānei.

Ka aha rā? Kāore taua momo huka e kiia nei ko te `(glycogen)` e pakaru tika ana, ā, ka kohia ki roto i ngā wāhanga iti e kiia nei ko te `(lysosomes)` i roto i ngā pūtau o te tinana. Whakaarohia he rite ki te ipu para, ki te kore e tangohia te para, ka kī. Ko ēnei `(lysosomes)` ngā wāhi e hangarua ai ngā mea o roto i ō tātou pūtau, arā, he mea hanga kia taea ai te whakamahi anō. Nō reira, nā te mea kāore tēnei whākōkī `(GAA)` e mahi tika ana, ka kī te `(glycogen)` i roto i ēnei `(lysosomes). Mā tēnei ara, ka kohia te `(glycogen)` i roto i ō tātou uaua ngākau me ngā uaua angaiwi. Ina kohia pērā, ka pakaru aua okana, ā, ka tīmata te ngoikore haere.

Ka kiia hoki tēnei mate:

• `(Te mate a Pompe)` (Te mate a Pompe)
• `(Te ngoikore o te waikawa maltase)` (Te ngoikore o te waikawa maltase)
• `(Mate rokiroki glycogen momo II (GSD2))` (Mate rokiroki glycogen - momo II)

He aha ngā momo matua o te mate Pompe?

E rua ngā momo matua o te mate Pompe, i runga i te pakeketanga me te kaha o ngā tohu.

Te mate Pompe e tīmata ana i te pēpi

Koinei te momo tino kino o te mate Pompe. Ka puta tēnei āhuatanga ina ngaro rawa te whākōkī (waikawa alpha-glucosidase (GAA)), he iti noa iho rānei te nui o te whākōkī. I ētahi wā, kāore pea te pēpi e whakaatu i tētahi tohu i te whānautanga. Heoi, ka tīmata ngā tohu i te nuinga o te wā ka puta i roto i te tau tuatahi o te oranga, i te nuinga o te wā i te 4 marama te pakeke.

He ngoikore rawa ngā uaua o ēnei tamariki, he nui te ate, me te nui o te ngākau nā te ngoikore o te uaua ngākau (cardiomyopathy). He tino whanake haere te mate. Ki te kore e rongoatia tika, ka mate pea ēnei tamariki i te ngoikore o te ngākau, i te ngoikore rānei o te manawa i roto i te tau, e rua rānei. He āhuatanga tino pouri tēnei.

Te mate Pompe tīmatanga tōmuri

Ka taea e tēnei momo mate Pompe te puta i ngā tau katoa. Ka taea te puta i mua i te tau kotahi o te pakeke, engari kāore e nui haere te ngākau (he āhuatanga motuhake tēnei mai i te mate i te wā pēpi), ka taea rānei te puta i te wā tamarikitanga, taiohitanga, tae noa ki te pakeketanga. He iti te taumata o te whākōkī "(GAA)" o ēnei tāngata, engari kāore i te iti pērā i ngā pēpi.

He ngawari ake tēnei momo, ā, he iti ake te kino i te momo pēpi, engari e whakawhirinaki ana ki te tau ka tīmata ai ngā tohu. Ko ngā tamariki e pāngia ana e ngā tohu i te wā tamarikitanga, tera pea ka kaha ake te haere.

Ko te tohu matua ko te ngoikore o te uaua (`(myopathy)`). Ka uaua pea te manawa i tēnei. Heoi, he iti ake te tūponotanga ka pāngia te ngākau. Ki te kore e rongoatia, ka mate pea ngā raruraru manawa.

He pēhea te noa o te mate Pompe?

He mate ira tino onge te mate Pompe. Hei tauira, i te Hononga o Amerika, tata ki te kotahi i roto i te 40,000 tāngata ka pāngia e tēnei mate. I Sri Lanka, he uaua ki te kimi tatauranga tika mō tēnei, engari e mārama ana he mate onge tēnei.

He aha ngā tohu o te mate Pompe?

Ko te tohu matua o te mate Pompe ko te ngoikore haere o ngā uaua , inā koa i ngā hope, ngā waewae, ngā pakihiwi, ngā ringa, me te diaphragm, te uaua nui i waenganui i te uma me te puku.

Ngā tohu o Pompe i te wā kōhungahunga:

• Tērā pea ka ngoikore ngā uaua, kāore e pakari (hypotonia). Tērā pea ka āhua ngoikore te tinana, pērā i te "pēpi e ngoikore ana".
• Te whakanui o te ngākau (`(cardiomegaly)`)
• Ate nui haere (`(hepatomegaly)`)
• Te arero nui (macroglossia)
• Te kore e tupu pai ('te kore e tupu pai'). Ko te tikanga tēnei kāore te pēpi e piki tika te taumaha, e roa rānei.
• Te uaua ki te manawa.
• Te uaua ki te kai me te inu miraka.
• Ngā mate urutā auau (hei tauira, te niumōnia).
• Te ngoikore o te whakarongo.

Ngā tohu o te Pompe kua roa te tīmatanga:

He ngawari noa iho ēnei tohu, ā, ka kino haere i roto i te wā. Heoi anō, ka taea hoki e ēnei te whakararuraru i te tinana me te whakararu i te manawa.

• Te ngoikore haere o ngā uaua o ngā waewae me te tinana.
• Te uaua ki te hikoi, te hinga pinepine.
• Te mamae i ngā wāhanga rerekē o te tinana, inā koa ki ngā uaua.
• Te ngaro o te kaha ki te korikori tinana, ki te oma, ki te peke.
• Ngā mate manawa auau.
• Te uaua ki te manawa (dyspnea) ina paku ngenge.
• Te mamae o te upoko i te ata.
• Te tino ngenge i te awatea.
• Te whakahekenga taumaha koretake.
• Te uaua ki te horomi kai (dysphagia).
• Ngā koretake o te manawa o te ngakau (arrhythmia).
• Te hekenga haere o te kaha whakarongo.

He aha ngā take o te mate Pompe?

Ko te mate Pompe e puta mai ana i ngā whakarerekētanga o te ira `(GAA)`. Ko tēnei ira `(GAA)` te kawenga mō te whakaputa i te whākōkī `(acid alpha-glucosidase)` i whakahuatia i mua ake nei. Ka wawahia e tēnei whākōkī te huka matatini `(glycogen)`.

I te nuinga o te wā, ka hurihia e ō tātou tinana tēnei `(glycogen)` ki `(glucose)`, e whakamahia ana mō te pūngao. Ka mahi te whākōkī `(Acid alpha-glucosidase)` i roto i ngā wāhanga e kiia nei ko `(lysosomes)` i roto i ō tātou pūtau. Whakaarohia ēnei `(lysosomes)` hei pokapū hangarua i roto i ō tātou pūtau. Ka pakaruhia e ngā whākōkī ngā matū maha, ka ārahi i a rātou ki te mahi i ngā mahi hou mā te tinana, hei tauira, hei whakarato pūngao.

Nō reira, ki te pāngia koe e te mate Pompe, ka whakaitihia, ka ngaro rawatia rānei te hanga o te whākōkī `(acid alpha-glucosidase)` nā ngā whakarerekētanga ira i roto i te ira `(GAA)`. Ki te kore tēnei whākōkī, kāore e taea e tō tinana te wawahi tika i te `(glycogen)`. Kātahi ka kohia te `(glycogen)` ki roto i aua `(lysosomes)`, ka nui te kino o ngā uaua. Koinei te tino take o ngā tohu.

Ka tukuna iho tēnei mate i roto i te momo ira tuku iho ā-ira. Ko te tikanga me tuku iho e ō mātua e rua te ira kua whakarerekētia ki a koe. I te nuinga o te wā, ko ngā mātua anake ngā kaikawe o te mate, arā, kāore e whakaatu i ngā tohu. Engari kei a rātou te ira kua whakarerekētia.

He aha ngā āhuatanga kino o te mate Pompe?

Ki te kore e rongoatia, ka mate pea te mate Pompe, e tīmata ana i te wā pēpi, i te tamarikitanga. He maha ngā tāngata e pāngia ana e te mate Pompe ka pāngia e ngā raruraru manawa me te ngākau. Tata ki te katoa o ngā tūroro ka pāngia e te ngoikore o ngā uaua. I tētahi wā o ō rātou oranga, he maha ngā tāngata e hiahia ana ki te tautoko hāora me ngā taputapu āwhina mō ngā mahi pēnei i te hikoi.

Me pēhea te tātaritanga o te mate Pompe?

Ka tirohia tō tinana e tō tākuta, ka pātai atu mō tō hītori hauora whānau. Kātahi ka tangohia he tauira toto, ka whakamātauria he whākōkī e kiia nei ko te "creatine kinase". Mā tēnei ka āwhina i te whakatau mēnā kua pāngia te uaua. Ko tētahi whakamātautau motuhake ake ko te ine i te mahi a te whākōkī "(GAA)" i roto i tō toto. Ka taea hoki e koe te "whakamātautau ira" te whakamātautau ira rānei hei ako i te ira "(GAA)" i roto i tō tinana.

Hei tāpiri, ka taea te whakahaere i ngā whakamātautau e whai ake nei:

• Ngā whakamātautau mahi a ngā pūkahukahu : Ka ine ēnei i te kaha o ngā pūkahukahu.
• Electromyography (EMG) : Mā tēnei ka ine i te pai o te mahi a ō uaua.
• Ngā whakamātautau ngākau : Kei roto pea i tēnei ko ngā whakamātautau pēnei i te electrocardiogram (EKG) me te echocardiogram (echo).
• Ngā rangahau moe : Ka hopukina e ēnei whakamātautau ētahi mahi a te tinana i a koe e moe ana.

Me pēhea te rongoā i te mate Pompe?

Ko te rongoā matua mō te mate Pompe koTe Whakaora Whakakapinga Whākōkī (ERT). I roto i tēnei, ka hoatu e tō tākuta tētahi o ngā rongoā e whai ake nei mā te uaua:

• `(Alglucosidase alfa)`
• `(Avalglucosidase alfa)`

He whākōkī ira-hangarau ēnei rongoā, ā, he rite tonu te mahi ki ngā whākōkī e puta noa ana i roto i ō tātou tinana. Ko tēnei maimoatanga:

• Ka āwhina ki te whakaiti i te rahi o te ngākau.
• Ka āwhina ki te pupuri i te mahi noa o te ngākau.
• Ka āwhina i te whakapai ake i te mahi a te uaua, te kaha, me te pakari, ka whakaroa rānei i te haere whakamua o te mate.
• Ka whakaiti i te nui o te glycogen e rongoa ana i roto i te tinana.

Hei tāpiritanga, ka rongoatia ō tohumate takitahi e tētahi rōpū tohunga, ā, ka whakaratohia hoki te tiaki e tika ana. Kei roto pea i tēnei rōpū:

• Ngā kaiwhakaora tinana, ngā kaiwhakaora mahi, me ngā kaiwhakaora manawa
• Ngā tohunga ngakau
• Ngā tohunga roro

I runga i te kaha o tō mate, ka hiahia pea koe ki:

• Te whakaora tinana, te whakaora mahi rānei.
• He ngongo whāngai (`(ngoi whāngai)`).
• He tautoko manawa horihori (`(whakahauora ā-mīhini)`).

Kei te whakahaerehia e ngā kaipūtaiao ngā whakamātautau haumanu mō te rongoā ira mō te mate Pompe. Ko te rongoā ira ko te whakakapi i ngā ira kua pakaru ki ngā ira hauora. Mā tēnei ka taea e tō tinana te whakaputa tika i te whākōkī waikawa alpha-glucosidase. He tumanako nui tēnei mō te heke mai.

Ka taea te ārai i te mate Pompe?

He mate ira te mate Pompe, nō reira kāore e taea te ārai . Heoi, ki te mea kei te hapu koe, kei te whakaaro rānei koe kia hapu, he mea pai kia kōrero koe ki tō tākuta mō te tohutohu ira . Mā tēnei koe e āwhina ki te ako atu mō tēnei, ā, ki te tika, kia whakamātauria koe.

He aha te roanga o te ora o te tangata me te mate Pompe?

Ki te kore te mate e tautuhia, e rongoatia hoki i te wā wawe, ka mate ngā tamariki e pangia ana e te mate Pompe i te wā pēpi tonu i te wā taitamariki tonu i te uaua o te manawa, i te ngoikore rānei o te ngākau.

Tērā pea ka roa ake te ora o te hunga e pāngia ana e te mate Pompe e tīmata ana i te mutunga, nā te mea ka puhoi ake te whanaketanga o te mate. Heoi, ka whakawhirinaki tēnei ki te tau ka tīmata ai ngā tohu me te kaha o te mate. I te nuinga o te wā, ka pakeke ake te tau ka tīmata ai ngā tohu, ka puhoi ake te whanaketanga o te mate.

Āhea koe me toro atu ki te tākuta?

Mena kei a koe, kei tāu tamaiti rānei ngā tohu o te mate Pompe, me toro atu koe ki te tākuta tonu . Mā te tautuhi wawe i te mate ka nui ake te whakapai ake i te kounga o te oranga mō ngā tamariki me ngā pakeke e pangia ana e tēnei mate.

Me pēhea e au, e taku tamaiti rānei te tiaki i a ia anō me tēnei mate?

Mena kei a koe, kei tāu tamaiti rānei te mate Pompe, whakaarohia te kōrero ki tētahi tohunga hinengaro. Ka taea e te tohunga hinengaro te āwhina i a koe ki te mārama ake ki te āhua me te āwhina i a koe ki te aro atu ki tēnei mate. He rōpū tautoko anō hoki kei reira ka taea e koe te tūtaki ki ētahi atu tāngata e pāngia ana e ngā āhuatanga ōrite me te whakawhitiwhiti wheako.

He maha ngā wā ka pāngia ngā kaitiaki e te ngenge nui, te ahotea rānei (te ngenge, te pau rānei o te kaha o te kaitiaki). He mea noa tēnei, engari he mea nui kia tiakina koe me tāu tamaiti.

He aha ngā pātai me pātai atu ki ngā tākuta mō te mate Pompe?

Mena kua tāpaetia koe, tāu tamaiti rānei, kei te mate a Pompe, me pātai atu pea koe ki tō tākuta i ngā pātai penei:

• He aha te momo mate Pompe kei taku tamaiti?
• He aha tāu e taea te kī mō te roanga o te oranga o taku tamaiti?
• He aha te momo tohunga me toro atu tātou?
• Kia pēhea te auau o taku haerenga ki ēnei tohunga?
• He aha taku e taea ai kia noho pai ai taku pēpi?
• He mea pai rānei te whakahaere i ngā whakamātautau ira mō ētahi atu mema o te whānau?
• Me pēhea taku ako ki te noho pai me te mate Pompe?

Mena kei a koe, kei tāu tamaiti rānei te mate Pompe, pātai atu ki tō tākuta mō te whakauru atu ki tētahi rōpū tautoko. He tino āwhina, he whakamarie hoki te whakapuaki i ō wheako me te ako mai i ētahi atu. Kia maumahara, ehara i te mea ko koe anake. Ahakoa kāore he rongoā mō te mate Pompe, kei te haere tonu ngā rangahau a ngā kaipūtaiao i ngā maimoatanga. Kei te ako ngā tākuta i ētahi rongoā whai hua hei āwhina i te whakahaere i te horapa o ngā tohu me te whakapai ake i te kounga o te oranga o tāu tamaiti.

Karere Tangohia ki te Kāinga

Hei whakamutunga, he mate onge, he mate ira te mate Pompe. Ko te nuinga o te wā ka ngoikore te uaua. E rua ngā momo, ko te momo tīmatanga pēpi me te momo tīmatanga tōmuri. He mea tino nui te tautuhi me te maimoatanga wawe, pērā i te Whakaora Whakakapinga Whākōkī (ERT). Ka taea e te hunga e ora ana me tēnei mate me ō rātou whānau te whai hua nui mai i te tautoko hinengaro me ngā rōpū tautoko. I te haere tonu o te rangahau ki ngā maimoatanga hou, kei reira te tumanako mō te heke mai. Mena he pātai āu mō tēnei, kaua e mangere ki te kōrero ki te tākuta.

Mate Pompe , mate rokiroki glycogen, waikawa alpha-glucosidase, whākōkī GAA, ngoikore uaua, rongoā whakakapinga whākōkī, mate ira, Pompe tīmatanga pēpi, Pompe tīmatanga tōmuri, mate rokiroki lysosomal