Kei te pāngia tō tamaiti e tēnei mate onge? (Nonketotic Hyperglycinemia - NKH) Me kōrero tāua mō tēnei

Kei te hiamoe tonu tāu pēpi whānau hou, kāore e hiahia ki te whāngai ū? Kei te uaua rānei tana manawa? He mea noa ki a koe hei mātua te mataku nui ina kite koe i ēnei mea. I ētahi wā, tera pea he mate kino, he onge hoki kei muri i ēnei tohu. Ko tētahi o aua mate ko te `(Nonketotic Hyperglycinemia)` ko te `(NKH)` rānei. Me kōrero tātou mō tēnei i tēnei rā, me te taipitopito hoki.

E mōhio ana koe ki te tikanga o te kupu `(NKH)`?

Ki te kī māmā noa, he tino onge te mate ira "Nonketotic Hyperglycinemia" me te "NKH" rānei. Ko te mea ka tupu, kāore e taea e te tinana o tā tātou pēpi te whakahaere tika, te wawahi rānei i tētahi ngota e kiia nei ko te "glycine".

Tērā pea kei te pātai koe he aha te `(glycine)`. Ko te `(Glycine)` he waikawa amino `(amino acid)`. Pērā i te mea e hiahiatia ana ngā pereki hei hanga whare, he mea nui ēnei waikawa amino hei hanga pūmua i roto i tō tātou tinana. Nō reira, ina kore e taea e te tinana o te pēpi te whakahaere tika i tēnei `(glycine)`, ka tīmata te kohikohi ki ngā wāhanga rerekē o te tinana, inā koa i roto i te roro . Ka kiia tēnei ko te `(hyperglycinemia)` ina piki haere te taumata o te `(glycine)` me te koretake. Ka taea e tēnei te whakararu i te pēpi ki ngā raruraru pūnaha io, te koma, ā, i ētahi wā ka mate.

Ko te wāhanga "koreketotic" o te ingoa e pā ana ki te meka he rerekē i ētahi atu mate ka taea te whakanui ake i te glycine i roto i te tinana. Ka kiia hoki te NKH he hapa whānau o te metabolism . He āhuatanga e puta mai ana i te whānautanga, ā, ka pā ki te āhua o te kore e puta tika ai ētahi tauhohenga matū i roto i te tinana. Ko tētahi atu ingoa mō tēnei ko te glycine encephalopathy.

He momo rerekē anō kei te `(NKH)`?

Ae, e wehea ana e ngā kairangahau te NKH kia rua ngā momo matua: te momo tawhito me te momo rerekē . E rua ngā momo huringa o ngā ira e puta ai tēnei. Ko ngā ingoa NKH tawhito me te momo rerekē e pā ana ki te ira kei a ia te whakarerekētanga.

E rua ngā momo o te `(NKH)` tawhito - te tino kino me te ngoikore . Ka whakarōpūtia ēnei i runga i te kaha o ngā tohu. O ēnei , ko te `(NKH)` kino te mea tino kitea .

He pēhea te noa o tēnei āhuatanga?

He mate tino onge te `(NKH)`. I te ao whānui, tata ki te kotahi i roto i te 76,000 pēpi e pāngia ana e tēnei mate. Nō reira, kaua e mataku ina rongo koe i tēnei. Heoi, he mea nui kia tūpato.

He aha ngā tohu o te mate `(NKH)`?

Ko ngā tohu o ngā momo kino me ngā momo ngawari o te "NKH" ka tīmata i te whānautanga . I ētahi wā, ka puta pea ngā tohu i roto i ngā marama tuatahi o te oranga.

Ngā tohu o te mate kino `(NKH)`:

Ko ngā mea tuatahi ka kitea e ngā pēpi he `(NKH)` kino:

• Te hiamoe nui (ngoikore): Ka piki haere pea tēnei, ā, ka huri hei koma.
• ngoikore o te uauaHypotonia: Tērā pea ka mate te pēpi i te āhua o te kore ora.
• Ngā uauatanga manawa e morearea ana ki te ora : Ka kitea tēnei i ngā rā tōmua o te oranga.

Ki te karohia ēnei tohu tōmua, ka kitea pea ēnei e whai ake nei:

• Te uaua ki te inu miraka.
• Te mutu o te manawa i ngā wā katoa (apnea).
• Hauātanga hinengaro nui .
• Te pakari o te uaua rerekē (te koretake o te nekehanga).
• Ngā mate hopuhopu uaua ki te whakahaere .

He maha ngā wā, kāore e taea e ēnei tamariki te mahi i ngā taumata whanaketanga noa, pērā i te ngokingoki, te pupuri i tētahi taonga takaro, te noho ake, me te inu i te pounamu. Ahakoa ka ako rātou i tētahi mea, ka taea e aua pūkenga te "hoki whakamuri" i roto i te wā. Whakaarohia te pouri o tēnā mō ngā mātua.

Ngā Āhuatanga o te NKH Kua Whakaitihia:

He iti ake te kino o ngā tohu o te NKH ngawari i ērā o te NKH kino, engari he rite tonu. Ko ngā tamariki he NKH ngawari te nuinga o te wā ka eke ki ngā taumata whanaketanga, engari ka rerekē rawa atu ō rātou pūkenga . Tērā pea ka whakaroa te whanaketanga, engari i te mutunga ka ako te nuinga o ngā tamariki ki te hikoi me te kōrero ki ētahi atu. Ka pāngia ētahi tamariki e ngā mate haurangi, engari he ngawari noa iho ēnei, ā, ka taea te rongoā. Hei tāpiri, ka kitea pea ngā tohu pēnei i ngā nekehanga ā-ringa (chorea), te pakari o te uaua (spasticity), me te hyperactivity (hyperactivity).

He aha te take e whanake ai te `(NKH)` i roto i ngā pēpi?

Ko te tino take o tēnei ko ngā panonitanga o ngā ira, arā, ngā whakarerekētanga ira . Ina koa, tata ki te 80% o ngā tūroro e pāngia ana e ngā panonitanga o te ira e kiia nei ko te `(GLDC)`. Ko ētahi atu e pāngia ana e ngā panonitanga o te ira e kiia nei ko te `(AMT)`.

Ka tohutohu ēnei ira `(GLDC)` me `(AMT)` i tō tātou tinana kia whakarite kia tino tika ngā `(ngā whākōkī)`. Ka mahi tahi ēnei `(ngā whākōkī)` hei rōpū. Ka kiia tēnei rōpū ko te `( pūnaha tapahi glycine)`. Ko tā tēnei mahi, ina kore tātou e hiahia ki te `(glycine)`, ka wahia kia iti ake ngā wāhanga. Ina piki ake te nui o te `(Glycine)`, ka whakararuraruhia te mahi a te roro.

Nō reira, ki te puta he whakarerekētanga ira i roto i tētahi o ēnei ira e rua, ka uaua ki ō tātou tinana te wawahi i te glycine. Ka whakaitihia e ētahi whakarerekētanga te mahi a tēnei pūnaha tapahi glycine, ko ētahi ka whakakorea rawatia. Ina kore e mahi tika tēnei pūnaha, ka nui ake te glycine i roto i ngā whekau o te pēpi, inā koa te roro. Kāore anō kia mōhiotia e ngā kaipūtaiao te pānga o ēnei āhuatanga rerekē ki ngā tohumate NKH.

Ko te mate ``(NKH)`` ka tukuna iho i roto i te ``autosomal recessive pattern``. Ko te tikanga me whai ira whakarerekētanga ngā tārua e rua o te ira i roto i ia pūtau. I te nuinga o te wā, kotahi te tārua o tēnei ira whakarerekētanga kei ngā mātua e rua o te tangata whai ``(NKH)``, engari kāore e puta he tohu.

Me pēhea te tātaritanga a ngā tākuta i te mate `(NKH)`?

Hei tātaritanga i te `(NKH)`, ka tirotirohia tuatahitia e te tākuta o tō pēpi te tinana , ā, ka tirohia hoki ngā tohumate. Kātahi,

• Ka whakamātauria te taumata o te `(glycine)` i roto i te wai cerebrospinal (`(Cerebral Spinal Fluid - CSF)`) me te toto `(plasma)`. Ina heke te mahi a te `(enzyme)` kua whakahuatia ake nei, ka piki ake te taumata o te `(glycine)` i roto i te `(CSF)` me te toto. Waihoki, ka piki ake te ōwehenga i waenga i te taumata o te `(glycine)` i roto i te `(CSF)` me te taumata o te `(glycine)` i roto i te toto.
• He tino whai hua anō te matawai MRI o te roro , nā te mea ka taea te whakaatu i tētahi tauira motuhake o ngā huringa i roto i ngā roro o ngā pēpi me te NKH.
• Ka taea hoki e te whakamātautau ira te tirotiro mō ngā whakarerekētanga ira i roto i tētahi o ngā ira e rua e hua ai te NKH.
• He tino onge te tango i tētahi wāhanga iti o te ate hei tirotiro (kopikopikotanga ate) hei whakaū i te mate.

He aha ngā maimoatanga mō te `(NKH)`?

Nā te mea he tino mate ngā pēpi e pāngia ana e te `(Nonketotic Hyperglycinemia)`, me rongoatia rātou ki te `(Neonatal Intensive Care Unit - NICU)` . I roto i te `(NICU)`, ka whiwhi tō pēpi i te taumata tiaki me te maimoatanga teitei.

Engari, kāore anō kia kitea he rongoā mō te `(NKH)` kino i tēnei wā . Heoi, mō ngā pēpi he ngawari ake te mate `(NKH)`, tera pea ka whai hua ētahi maimoatanga. Me hoatu wawe ēnei maimoatanga, me te kaha hoki kia tino whai hua ai.

Ka taea te hoatu takitahi, te hoatu ngātahi rānei i ēnei maimoatanga:

• Ngā rongoā hei whakaiti i te taumata o te `(glycine)` i roto i te tinana o te pēpi (hei tauira, `(sodium benzoate)` ).
• Ngā rongoā e mahi ana ki te ārai i te mahi a te `(glycine)` i roto i ētahi pūtau io (hei tauira, `(ketamine)` me te `(dextromethorphan)` rānei).

He mea tino nui hoki te whakahaere i ngā mate hopuhopu. He uaua pea te whakahaere i ngā mate hopuhopu mā te whakamahi i ngā rongoā paerewa. Mō te maimoatanga angitu, me whakakotahi pea koe i ētahi rongoā, ā, me karo pea i ētahi rongoā, pērā i te waikawa valproic . Ka taea hoki e te kai ketogenic te āwhina i te whakahaere i ngā mate hopuhopu.

Te rongoā mō ētahi atu tohumate `(NKH)`:

• Te whakapūngao hau ā-mīhini.
• He ngongo e whakauruhia ana ki roto i te puku hei whakarato kai (ngongo gastrostomy).
• Te whakaora tinana.
• Te wawaotanga wawe me te tautoko tāpiri.

Ki te taea e koe, pātai atu ki tō tākuta mō te āheinga ki te whai wāhi atu ki tētahi whakamātautau haumanu .

He aha te roanga o te oranga o te tangata whai `(NKH)`?

He uaua ki te kī tika i te roa o te oranga o te tangata whai NKH. Nā te mea he maha ngā whakarerekētanga ira rerekē, ā, he rerekē rawa te kaha o te mate. Heoi, e ai ki te whakatau tata a te Foundation for Nonketotic Hyperglycinemia, e 80% o ngā pēpi whai mate kāore e ora i te wā whānau hou (te marama tuatahi o te oranga) . Ahakoa ka ora rātou i te wā whānau hou, he maha ngā tamariki whai NKH kino kāore e ora i tua atu i te 5 tau te pakeke. Ka taea e te tīma hauora o tāu tamaiti te hoatu he whakaaro pai ake ki a koe mō tēnei. Whakawhirinaki ki ō rātou tohungatanga me te tautoko. E mārama ana ahau ki te uaua o te rongonga i tēnei.

Ka taea te ārai i tēnei mate?

Kāo. He mate ira (NKH) ā, kāore e taea te ārai . Mena kei te āwangawanga koe kei riro mai i tāu tamaiti tēnei mate, he mea pai kia kōrero koe ki tētahi kaitohutohu ira i mua i te whakamahere i te haputanga.

Āhea ahau me kawe i taku pēpi ki te tākuta?

Mena kei te tino ngenge tō pēpi hou, kāore rānei e hiahia ki te whāngai ū , me haria tonutia ia ki tētahi tākuta tamariki. Tērā pea ka tukuna koe e te tākuta ki te wāhanga ohorere o te hōhipera kia whiwhi ai i te maimoatanga tonu. Ahakoa te take o ēnei tohu, he mea nui kia tirohia tonutia.

He aha ngā pātai me pātai atu e au ki te tākuta o taku pēpi?

Mena kei tō pēpi te `(NKH)`, me pātai atu koe i ēnei pātai:

• He aha te take i whakatūria ai a `(NKH)`?
• He aha te momo o te `(NKH)` kei taku pēpi?
• He aha ngā kōwhiringa maimoatanga e taunaki ana koe?
• He whakamātautau anō kei reira hei matapae i te kaha o tēnei mate?
• Kia pēhea te tawhiti e taea ai e taku pēpi te ahu whakamua i roto i ngā āhuatanga o te whanaketanga (te hīkoi, te kōrero, te mātauranga)?
• Me kai rongoā taku pēpi mō te toenga o tōna oranga?
• Ka taea hoki e aku tamariki ā muri ake nei te whakawhanake i te `(NKH)`?
• Ka taea e koe te tūtohu i tētahi rōpū tautoko?

Ina kitea tō pēpi he Nonketotic Hyperglycinemia (NKH), ka ohorere pea, ka pōhēhē hoki. Ka tino taumaha te rongonga he mate onge tō pēpi, ā, he iti noa iho ngā maimoatanga e wātea ana. Mēnā ka taea, kimihia he rōpū tautoko mō ngā whānau o ngā tamariki e pāngia ana e te NKH. Mā te kōrero ki ētahi atu kua pā ki a rātou ngā āhuatanga ōrite, ka taea te whakakaha i a koe, ā, ka āwhina i a koe ki te aro atu. Kia mahara, kei reira te tīma hauora o tō pēpi hei tautoko i a koe i ia taahiraa o te ara.

## Ngā Mea Hira hei Mahara (Karere hei Tango ki te Kāinga)

• (NKH) he mate ira tino onge, he kino hoki .
• Nā tēnei ka kohia te matū e kiia nei ko te "glycine" ki roto i te tinana o te pēpi, inā koa ki roto i te roro .
• Ko te tikanga ka tīmata ngā tohu i te whānautanga mai anō , ā, ka uru atu pea ki te hiamoe nui, te uaua ki te whāngai, te uaua ki te manawa, me ngā haurangi.
• Te āhua kino o te `(NKH)`Ahakoa kāore he rongoā, kei reira ētahi maimoatanga ngawari.
• Mena ka pāngia tō pēpi e ēnei tohu, he mea nui kia rapu tohutohu hauora tonu atu .
• Kāore koe i te mokemoke i tēnei haerenga. Rapua he āwhina mai i tō tīma hauora me ngā rōpū tautoko . He mea tino nui hoki tō kaha hinengaro.

Ko tāku tumanako ka whai hua ēnei kōrero ki a koe. Ko te mea nui i ēnei wā uaua ko te noho kaha.

` Te Hyperglycinemia Koreketotic, NKH, Glycine, Ngā Mate Ira, Ngā Mate Tamariki, Ngā Mate Pūnaha Io, Ngā Hapa Pūnaha