Kei tō pēpi ēnei tohu? Me kōrero tātou mō te Mate Leigh!

He tino whakahihiri te kite i tētahi pēpi hou, kāore? Engari i ētahi wā, ahakoa te āhua hauora i te tīmatanga, ka tīmata pea rātou ki te whakaatu i ngā tohu rerekē i muri i ētahi marama. Mena he uaua ki a rātou te whāngai ū, he nui te tangi, he mate haurangi rānei, he tohu pea ēnei o tētahi mate ira onge e kiia nei ko te Leigh Syndrome. He tino mamae tēnei, engari he mea nui kia mōhio ki tēnei.

He aha te Leigh Syndrome? He māmā noa iho...

Ko te Mate Leigh, e mōhiotia ana ko te Mate a Leigh, he mate ira tino onge. Ka pā te nuinga ki te pūnaha io matua o tō pēpi. Arā, ko te roro, te taurakira, me ngā io. Whakaarohia, he pēpi kei a ia tēnei mate e āhua hauora ana i te nuinga o te wā i tōna whānautanga. Engari i roto i te wā, ka ngoikore haere ngā pūtau o tana pūnaha io, ka mate rānei.

Ko te tikanga ka tīmata ēnei tohu ina tata ki te 3 marama te pakeke o te pēpi, i mua rānei i te 2 tau te pakeke. Ko ngā mea tuatahi ka kitea e koe ko te uaua ki te ngote, te kore kai, te tangi kore take, me ngā mate haurangi.

Engari, kāore he rongoā tuturu mō te mate Lee. He mate morearea tēnei. Ko te nuinga o ngā tamariki e pāngia ana e tēnei mate ka mate i mua i te 3 tau te pakeke. Heoi, he tino onge te pānga o tēnei mate ki ngā taiohi, ki ngā kaumātua rānei.

He aha ngā Mate Mitochondrial? Ngā wheketere pūngao o ō tātou tinana!

Hei mārama ki tēnei, me mōhio tātou ki ngā mitochondria . He rite ngā mitochondria ki ngā wheketere pūngao iti i roto i ngā pūtau o ō tātou tinana. Koinei ngā mea e whakaputa pūngao ana mai i ngā waikawa ngako me te hukahuka i roto i te kai e kainga ana e tātou, ā, ka hurihia hei matū e kiia nei ko te adenosine triphosphate (ATP) . Ko tēnei ATP te mea e homai ana te pūngao ki ō tātou pūtau hei mahi.

Kei roto i ngā pūtau katoa ngā mitochondria, engari ko ngā toto whero anake. Ko ngā mate mitochondria he āhuatanga e puta ana ina kore e mahi tika ēnei mitochondria. Kāore e whiwhi ngā pūtau i te pūngao e hiahiatia ana e rātou, ā, ka pakaru, ka mate rānei ngā pūtau.

He nui te pūngao e hiahiatia ana e tō tātou pūnaha io kia mahi ai. I roto i te mate Lee, ka pakaru, ka ngaro rānei ngā pūtau o te pūnaha io o te tamaiti, inā koa ko ngā pūtau e whakarato pūngao ana ki te roro, ki ngā io, me te taurakira.

He ingoa kē atu anō mō ​​te Mate Leigh?

Āe, i tapaina tuatahitia tēnei mate e te rata Peretānia a Archibald Denis Leigh, nāna i whakaahua i te tau 1951. I tapaina e ia ko te Subacute Necrotizing Encephalomyelopathy (SNE) .He mate te Encephalomyelopathy e pā ana ki te roro me te taurakira. Heoi, he maha ngā tākuta e kī ana i ēnei rā ko te mate Lee, ko te mate Lee rānei.

He aha ngā momo matua o te Mate Leigh?

He maha ngā momo matua o te mate Lee:

• Te Mate Leigh Pēpi: Koinei te momo tino noa. Ka puta ngā tohu i mua i te rua tau o te tamaiti. Ka kiia hoki tēnei ko te Mate Leigh Matarohia. Ka pāngia ngā tāne me ngā wāhine e te ōrite.
• Te mate Lee e pāngia ana e te pakeketanga: Ka puta ngā tohu i muri i te 2 tau te pakeke, i ētahi wā i te taiohitanga, i te tīmatanga rānei o te pakeketanga. He tino onge tēnei. He maha ake ngā tāne e pāngia ana e tēnei momo. Waihoki, he puhoi ake te whanaketanga o te mate i te momo e pāngia ana e te wā wawe.
• Te mate Leigh-rite: I tēnei āhuatanga, tera pea ka kitea ētahi o ngā tohu o te mate Leigh i te tangata, engari kāore ngā matawai whakaahua e whakaatu i ngā tohu o te mate i roto i te roro.

He pēhea te noa o tēnei mate?

E kiia ana ka pā te mate Lee tawhito (moata) ki te kotahi i roto i te 40,000 pēpi hou puta noa i te ao. Heoi, he nui ake te kitea i ētahi rohe whenua. Hei tauira:

• Kotahi i roto i te 2,000 pēpi hou i te rohe o Lac-Saint-Jean o Quebec, Kanata.
• Kotahi i roto i te 1,700 pēpi hou i ngā Moutere o Faroe, kei waenganui i a Iceland me Scotland.

Kāore anō kia kitea te tino take mō tēnei.

He aha te take o te mate Leigh?

Kua kitea e ngā tohunga ka puta te mate Lee i ngā whakarerekētanga ira i roto i te neke atu i te 75 ira . Ka pāngia e ēnei whakarerekētanga ira te kaha o tō tātou tinana ki te whakaputa ATP (pūngao).

E waru i roto i te tekau o ngā tamariki e pāngia ana e te mate Lee ka riro i a rātou te mate i roto i ngā huarahi matua e rua:

1. Mate pūmau ā-ira: I roto i tēnei, ka riro i te tamaiti te whakarerekētanga ira kotahi mai i ngā mātua e rua. Ko ngā mātua anake ngā kaikawe o tēnei whakarerekētanga, ā, kāore i a rātou te mate.

2. Mate ira tuku iho hono-X: Ka puta tēnei i te whakarerekētanga ira i runga i te ira X. Ka puta mai pea i te whaea, i te pāpā rānei. Mena he whakarerekētanga ira tēnei i runga i tētahi o ana ira X, kotahi i roto i te whā te tūponotanga ka riro i tana tama, i tana tamahine rānei te whakarerekētanga ira. Mena ka riro i te tama tēnei whakarerekētanga ira, ka pāngia ia e te mate Lee; kāore te kōtiro. Heoi, ka taea e te tamahine te tuku i te ira hapa ki āna tamariki ā muri ake nei. Ka taea e te pāpā te tuku i te ira X kua whakarerekētia ki tana tamahine, engari kāore ki tana tama.

He aha ngā pānga o ngā panonitanga o te DNA mitochondrial ki te mate Lee?

Tata ki te 2 i roto i te 10 o ngā tamariki he DNA mitochondrial (mtDNA) ā rātouKa riro mai i te whaea te whakarerekētanga o te ira. Ka taea te tuku iho i tēnei whakarerekētanga ki ngā tāne me ngā wāhine. Kātahi ka pā ki ngā whakatipuranga katoa o te whānau. He onge noa iho te puta o tētahi whakarerekētanga mtDNA tūpono. Ko te whakarerekētanga mtDNA tino kitea i roto i te mate Leigh ko te mea e ārai ana i te ira `MT-ATP6` ki te whakaputa `ATP`.

He aha ngā tohu o te mate Leigh?

Ko ngā tohu o te mate Lee ka puta i roto i ngā tau tuatahi e rua o te oranga o te pēpi. I te tīmatanga, ka eke pea tō pēpi ki ngā taumata whanaketanga noa, pērā i te pupuri i tōna mahunga kia tika. Kātahi ka hoki whakamuri, arā, ka ngaro ēnei pūkenga, ka whakaatu rānei i ngā whakaroa tinana, whanaketanga rānei.

Ko ngā tohu tōmua o te mate Lee ko:

• Te uaua ki te horomi ( dysphagia ), te kore e pai ki te ngote, ki te whāngai rānei.
• Te korere me te ruaki.
• Te korenga o te oro o ngā uaua ( hypotonia ).
• Te koretake o te manawa me te tangi tonu.
• Ngā ngoikore ki te whakahaere i te mahunga me ngā uruparenga.

I te whanaketanga o te mate, ka puta pea ētahi atu tohu. Ka kitea anō hoki ēnei tohu i ngā wāhanga whakamutunga o te mate Lee. Kei roto i ēnei:

• He āhuatanga pērā i te mate wareware .
• Ngā raruraru nekehanga me te taurite, hei tauira te ataxia (te tūtuki i te wā e hikoi ana, te ngaronga o te taurite).
• Te uaua ki te whakapuaki tika i ngā kupu ( dysarthria ).
• Ngā whakaheke uaua ā-ture ( dystonia ).
• Te wiri, te pūmau rānei o te uaua ( te koretake o te nekehanga ).
• Pararutiki wāhanga.
• Te ngoikore o ngā io o ngā peka ( peripheral neuropathy ).
• Ngā wiri.
• Te whakaroa i te tipu tinana.

He aha te pānga o te Mate Leigh ki te tirohanga?

Ka pāngia hoki ngā io o ngā kanohi e te mate Lee, ka puta ai ngā raruraru pēnei i:

• Ngā kanohi kua whiti ( strabismus ).
• Te ngoikore o te tirohanga ( te ngoikore o te io whatu ).
• Te ngoikore, te pararutiki rānei o ngā kanohi.
• Ngā nekehanga tere o ngā kanohi kāore i te tūpato ( nystagmus ).
• Te ngaronga o te tirohanga.

I ngā wāhanga o muri mai, ka pāngia pea ngā taiohi, ngā pakeke rānei e te mate Lee e te matapo tae me te ngaronga o te tirohanga matua ( kitenga iti ).

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

Ko te waikawa lactic te take o te kohi o te waikawa lactic i roto i te toto o te tamaiti nā te mate Lee.Ka taea tēnei. Ka whakaputahia e ō tātou tinana te waikawa lactic ina iti rawa ngā taumata hāora i roto i ngā pūtau, ā, kāore e taea te tautoko i tā rātou pākia (te huri i ngā warowaihā hei pūngao). Waihoki, ka piki ake te nui o te hauhā waro i roto i ō rātou toto.

Ka taea e te waikawa lactic me te pikinga o te taumata o te hauhā waro te whakaputa i ngā mea e whai ake nei:

• Ngā uauatanga manawa: te poto o te manawa ( dyspnea ), te mutu o te manawa mō te wā poto ( apnea ), me te manawa rerekē, tere rānei ( hyperventilation ).
• Mate manawa: te matotoru o te uaua manawa ( hypertrophic cardiomyopathy ).
• Ngā raruraru whatukuhu.

Me pēhea te tautuhi i te mate Leigh Syndrome?

Ka taea e tō tākuta te tono i ngā whakamātautau penei:

• Ngā whakamātautau toto: Tirohia mēnā he tohu whākōkī e tohu ana i te waikawa lactic me te mate Leigh.
• Ngā whakamātautau whakaahua pēnei i te MRI (Magnetic Resonance Imaging): Tirohia mēnā he kino ki te kiko roro (ngā whara).
• Ngā whakamātautau ira: Kia kitea ai ko tēhea whakarerekētanga ira te take o te mate.

Me pēhea te rongoā i te Mate Leigh?

Engari, kāore he rongoā tuturu mō te mate Lee. Ko te kaupapa matua o te maimoatanga he whakahaere i ngā tohu me te whakamarie i te tamaiti. He mate whakamate tēnei.

Tērā pea ka kitea e tāu tamaiti he oranga ngākau mai i ngā mea pēnei i:

• Whakamaatia te waikawa lactic ki te waikawa citric (sodium citrate) te konutai paikāpōnate rānei.
• Te werohanga o te thiamine (Huaora B1) hei whakaroa i te haere whakamua o te mate.

Tērā pea ka whai hua ētahi tamariki he ngoikore ngā whākōkī mai i te kai nui te ngako, iti te warowaihā. Ko ētahi tamariki he uaua ki te kai, me whāngai mā te ngongo ('kai enteral').

He aha tāu e taea ai mēnā kei te pāngia tāu tamaiti e te mate Leigh?

He uaua pea te tiaki i tētahi tamaiti e pāngia ana e te mate e whakamate ana i a ia anō. Anei ētahi mea ka taea e koe te mahi hei āwhina i te whakaiti i te ahotea, te manukanuka, me te pouri ka pā ki a koe i tēnei wā:

• Kimihia ngā huarahi hauora hei whakaiti i te ahotea: pērā i te kōrero ki tētahi hoa, te whai wāhi rānei ki tētahi mahi whakangahau e pai ana ki a koe.
• Hono atu ki tētahi rōpū tautoko: He rōpū kanohi ki te kanohi, he rōpū ipurangi rānei. Mā te kōrero ki ētahi atu mātua ka āwhina i a koe kia kaua e noho mokemoke.
• Kia mārama koe ki te āhua o tāu tamaiti, ōna tohu motuhake, me te haere whakamua o te mate.
• Whakaritea he wā māu ake.Ka taea anake e koe te tiaki pai i tāu tamaiti mēnā kei te ora koe.
• Tikina ngā ratonga tautoko e hiahiatia ana e tāu tamaiti: pēnei i te tiaki hauora kāinga me ngā ratonga whakaora tinana.
• Kōrero ki tētahi tohunga hauora hinengaro . He wā tino uaua tēnei, nō reira kaua e mangere ki te tono āwhina.

He aha te heke mai mō te tangata e pāngia ana e te mate Leigh?

Ko te nuinga o ngā tamariki e pāngia ana e te mate Lee ka mate i te ngoikore o te manawa i te toru o ngā tau. He tino onge te oranga o te tamaiti e pāngia ana e te mate Lee wawe ki te pakeketanga. Ko te hunga e pāngia ana e te mate Lee i te pakeketanga ka ora pea ki te 50 tau.

Ka taea te ārai i te mate Leigh Syndrome?

Mena he tamaiti tāu e pāngia ana e te mate Lee, ka taea e koe te whakamātautau ira hei kimi mēnā kei a koe, kei tō hoa rānei te whakarerekētanga ira e puta ai taua whakarerekētanga. Tērā pea ka whakatau koe ki te tūtaki ki tētahi kaitohutohu ira hei matapaki i ngā huarahi hei whakaiti i te tūponotanga ka riro mai i ngā tamariki ā muri ake nei te whakarerekētanga ira.

Āhea koe me toro atu ki te tākuta?

Mena kei tō tamaiti tētahi o ēnei tohu, me toro atu ki te tākuta tonu:

• Te whakaroa i te whanaketanga, te ngaronga rānei o ngā pūkenga o mua.
• Te uaua ki te manawa, te kai, te horomi rānei.
• Ngā wiri.
• Te whakaroa i te tipu tinana.

He aha taku e pātai atu ai ki taku tākuta?

Ka taea e koe te pātai atu ki tō tākuta i ēnei pātai:

• He aha te take e pāngia ai taku tamaiti e te mate Lee?
• He aha ngā maimoatanga ka taea te āwhina i taku tamaiti?
• He aha taku e taea ai hei āwhina i taku tamaiti i te kāinga?
• Me whakamātauria māua ko taku hoa i ngā ira?
• Me mōhio ahau ki ngā tohu o ngā raruraru?

Hei whakamutunga, ngā mea hei maumahara (Karere hei tango ki te kāinga)

He mea noa te pōuri me te pouri ina rongo koe he mate onge, he mate morearea hoki tō tamaiti . Engari kia mahara ehara i te mea ko koe anake. He mea nui kia rapu maimoatanga mai i ngā tākuta he tohunga ki tēnei mate. Nā te mea ka pā te mate Lee ki ngā wāhanga rerekē o te tinana o tō tamaiti, tae atu ki te roro, ngā kanohi, te ngākau, me ngā whatukuhu, me toro atu pea koe ki ētahi tohunga rerekē.

Ka taea e ēnei tākuta te āwhina i a koe ki te whakahaere i ō tohumate, me te hono atu i a koe ki ngā ratonga tautoko e hiahiatia ana e koe me tō pēpi. Kātahi ka taea e koe te pārekareka ki tō wā me tō pēpi i ngā wā katoa e taea ana. He uaua tēnei haerenga, engari mā te aroha, te tautoko, me ngā tohutohu hauora tika, ka whai kaha koe ki te aro atu ki tēnei wero.

te mate Leigh , te mate mitochondrial, te mate ira, te hauora o te tamaiti, te whakaroa whanaketanga, te pūnaha io, me ētahi atu