Kei te pāngia tō tamaiti e tēnei mate onge? Me kōrero tātou mō te Kabuki Syndrome

Kua rongo koe i te Kabuki Syndrome? Kāore pea. Nā te mea he mate ira onge. Engari he mea nui kia mōhio koe ki tēnei, inā koa he mātua koe. Ki te kī ngāwari, ka pā tēnei mate ki ngā wāhanga rerekē o te tinana o tāu tamaiti. He maha ngā wā, he rerekē ngā āhua o te kanohi o ēnei tamariki, he iti noa ngā huringa o te pūnaha angaanga, he whakaroa i te whanaketanga hinengaro, me ngā raruraru whanaketanga i muri i te whānautanga. Engari ehara i te mea he tohu ēnei mō ia tamaiti, ā, ka rerekē te kaha o te mate i ia tangata, i ia tangata. Me kōrero tātou mō tēnei me ētahi atu taipitopito, e tika ana?

Nō hea te pūtake o te ingoa "Kabuki"?

He kōrero tino whakamere hoki tēnei. I te tau 1981, i kitea tuatahitia tēnei mate e ngā kaipūtaiao Hapanihi e rua, arā, ko te Kabuki Syndrome. I tapaina e tētahi o rātou ko te "Kabuki Makeup Syndrome". Ko te take o tēnei, he rite ngā āhua o te mata o te tini o ngā tamariki e pāngia ana e tēnei mate ki te hanga kanohi o ngā kaiwhakaari i roto i ngā whakaari "Kabuki", he toi whakaari tuku iho a Hapanihi. Whakaarohia, ko te āhua o te mau o ngā karu kanohi me te āhua o ō rātou kanohi he rite ki ngā āhua o te mata o ēnei tamariki. Engari i muri mai, ka tangohia e ngā kaipūtaiao te kupu "makeup" ka tīmata te whakamahi i te ingoa "Kabuki Syndrome". I ētahi wā ka rongo pea koe i tēnei mate e kiia nei ko te 'Kabuki disease', 'KMS', 'Niikawa-Kuroki syndrome' rānei.

He aha ngā tohu o te mate Kabuki?

Ahakoa he mate whānau mai te mate Kabuki, kāore pea tō pēpi e whakaatu i ngā tohu i te whānautanga. I ētahi wā ka roa pea ētahi tau ka puta mai ngā tohu. He mea nui hoki kia mahara ko ngā tohu e pā ana ki tō tamaiti me tōna kaha ka rerekē pea i ia tangata, i ia tangata.

Ka pāngia ngā okana me ngā pūnaha o te tinana o te tamaiti e te mate Kabuki. Me titiro tātou ki ngā tohu tino kitea:

Ngā āhuatanga kanohi motuhake

Koinei te mea tuatahi ka kitea e te tini.

• Ka piko ake ngā kamo, ā, he whānui te wehenga. Tērā pea ka ngaro te huruhuru i te pito o ngā kamo.
• Ka roa rawa ngā pūaha i waenganui i ngā kamo (ngā mātā palpebral).
• Ka papatahi te pito o te ihu.
• Ka taea e ngā taringa te rahi, ā, ka rite ki te kapu te āhua.

Ngā huringa i roto i te pūnaha angaiwi

Ka kitea anō hoki ētahi huringa i roto i ngā wheua o te tinana.

• Ngā mate pukupuku o te tuaiwi (pērā i te scoliosis).
• Ka taea te piko o te maihao māwhero. Ka kiia tēnei he clinodactyly i roto i ngā kupu hauora.
• Tērā pea ka poto ngā maihao me ngā matimati (brachydactyly).

Ngā āhuatanga e pā ana ki te pūnaha io

Ka taea hoki e koe te kite i ētahi mea e pā ana ki te roro me te pūnaha io.

• Hauātanga hinengaro ngawari, hauātanga hinengaro taurite rānei.
• Ngā hopukanga mate haurangi.
• Ngā whakaroa kōrero.
• Te ngoikore o te uaua (e kiia ana tēnei ko te "hypotonia"). Ko te tikanga o tēnei he paku ngoikore te tinana.

Ngā raruraru tipu me te pūnaha gastrointestinal

Ka pā pea tēnei ki te tipu o te tamaiti me ana tikanga kai.

• Ahakoa he noa te teitei me te taumaha i te whānautanga, tērā pea ka puta ētahi raruraru tipu i te 12 marama te pakeke.
• Tērā pea he iti iho te rahi o te upoko i te rahi toharite.
• Tērā pea ka uaua te kai me te horomi.
• He tūponotanga kei momona rawa koe i a koe e tamariki ana, ā, ina pakeke koe.

He mea nui: Ahakoa kotahi, e rua rānei o ēnei tohu, kāore e tohu ana kua pāngia te tamaiti e te mate Kabuki. He mea nui kia rapu tohutohu hauora kia tika ai te tātaritanga.

Ētahi atu okana me ngā pūnaha ka pāngia pea

Haunga ēnei tohu matua, ka pā mai anō hoki ētahi atu raruraru i te mate Kabuki.

• Mate ngakau whānau (te mate ngakau e puta mai ana i te whānautanga).
• Ngā raruraru o te puku (hei tauira, te mate pāwera, te whakapūngao o te puku, te kai rānei e piki ake ana ki te korokoro).
• Ngā raruraru o te whatukuhu me te pūnaha whakaputa uri.
• Ngutu ngatata me/ranei te waha whati.
• Ngā kamo e takoto kau ana, e takoto kau ana rānei.
• He nui ngā āputa i waenganui i ngā niho.
• Te pikinga ake o te mōrearea o ngā mate pāwera auau, ngā mate pūnaha ārai mate rānei.
• Te ngoikore o te whakarongo.
• Te pakeketanga wawe.

He aha te take o te mate Kabuki?

Āe, me titiro tātou ki te pūtake o tēnei mate. Ko te mate Kabuki ka puta mai i tētahi rerekētanga (variant) i roto i tētahi o ngā ira e rua.

I te nuinga o te wā, tata ki te 75%, ka puta mai i te whakarerekētanga o te ira e kiia nei ko `KMT2D` (i mōhiotia i mua ko `MLL2`). Ka kiia tēnei ko te mate Kabuki momo 1.

Ko te toenga 3% ki te 5% i puta mai i te whakarerekētanga o te ira KDM6A. Ka kiia tēnei ko te mate Kabuki momo 2.

I te whakarapopototanga, ka tohutohu ēnei ira e rua i ō tātou pūtau kia hanga he whākōkī motuhake. Ka whakarerekētia e ēnei whākōkī ngā pūmua e kiia nei ko ngā histone. Ka piri ēnei histone ki tō tātou DNA, ā, ka hoatu he āhua ki ō tātou chromosome. Nō reira, mā te whakarerekē i ēnei histone, ka taea e aua whākōkī te whakahaere i te mahi a ō tātou ira. He mea tino nui ēnei whākōkī mō te whanaketanga o te tamaiti.

Nō reira, ina puta he panoni i roto i te ira `KMT2D`, i te ira `KDM6A` rānei, kāore ēnei whākōkī e puta. Kātahi, nā te mea kāore i te tinana ēnei whākōkī, kāore ngā ira e mahi tika. Koinei te take o ngā tohu me ngā hapa whanaketanga e kitea ana i roto i te mate Kabuki.

Heoi, i ētahi wā ka kitea te mate Kabuki engari kāore he huringa i roto i tētahi o ngā ira e rua. I roto i ēnei āhuatanga, kāore tonu e taea e ngā tohunga te tohu i te tino pūtake o te mate.

Me pēhea te mōhio o ngā tākuta ki tēnei?

Ki te whakaaro koe kei tō tamaiti ēnei tohu, ko te mea tuatahi me mahi e koe ko te toro atu ki te tākuta. Ka pātai te tākuta ki a koe mō te hītori hauora o tō tamaiti, ā, ka tirotirohia hoki tō tamaiti. Ka rapua e ia ngā āhuatanga kanohi motuhake, ngā rerekētanga angaanga, ngā rerekētanga pūnaha io rānei e pā ana ki te mate Kabuki. Ka pātai anō hoki ia mō te hītori hauora o te whānau o te tamaiti (whānau koiora).

Ngā whakamātautau tātaritanga

Hei whakaū i te mate, ka whakahau te tākuta i te whakamātautau ira. Ko te tikanga o tēnei ko te tango tauira toto o te tamaiti me te rapu i ngā huringa o ngā ira e puta ai te mate Kabuki.

E ai ki taku kōrero i mua, ko ētahi tamariki e pāngia ana e te mate Kabuki, kāore pea he whakarerekētanga ira i roto i tētahi o ēnei ira. I roto i ēnei āhuatanga, ka mahi pea te tākuta i ētahi atu whakamātautau toto, i ngā rangahau ira rānei hei whakakore i ētahi atu mate.

He aha ngā maimoatanga mō te mate Kabuki?

Ahakoa te āhua pouri o tēnei, kāore he rongoā mō te mate Kabuki. Heoi anō, he maimoatanga kei reira. Ko te whāinga matua o ēnei maimoatanga he whakahaere i ngā tohu motuhake a tāu tamaiti, me te whakaiti i te tūponotanga o ngā raruraru. Me titiro tātou ki ēnei kōwhiringa maimoatanga:

• Ngā wawaotanga tōmua: Mā te tuku i tētahi tamaiti ki ngā ratonga tautoko me ngā kaupapa mātauranga motuhake i te wā iti ka āwhina i tōna whanaketanga hinengaro.
• Te whakaora whakauru pāngarau: Kei roto i tēnei ko te whakaatu i te tamaiti ki ngā momo mahi pāngarau, me te āwhina i a rātou ki te whakahaere i tā rātou urupare ki ngā whakaohooho.
• Ngā maimoatanga rongoā rerekē:
• Ka taea e te whakaora tinana te whakapakari i ngā uaua o te tamaiti.
• Ka taea e te whakaora mahi te āwhina i te whakawhanake i ngā pūkenga nekeneke pai, pērā i ngā nekehanga iti e mahia ana e ngā maihao.
• Ka taea e te whakaora kōrero te āwhina i te whakawhanake i ngā pūkenga kōrero me te reo.
• Ngā kai matotoru me/te whakaurunga rānei o te ngongo gastrostomy: Mena he uaua ki tāu tamaiti te kai, ka tūtohu pea tō tākuta i ēnei kōwhiringa.
• Te rongoā tāpiri mō te homoni tipu: Ka whai hua pea tēnei rongoā mō ngā tamariki he iti nei te homoni tipu, ā, he poto hoki ō rātou tinana.
• Ngā taputapu whakarongo, ngā ngongo whakataurite pēhanga rānei: Mena he ngoikore tō whakarongo, ka taea e ēnei taputapu te āwhina.
• Rongoā: Ka taea te whakamahi i ngā rongoā hei whakahaere i ngā tohu pēnei i te haurangi, te reflux gastrointestinal, me te ADHD (mate kore aro nui).
• Pokanga:He wā anō e hiahiatia ai te pokanga mō ngā mea pēnei i te scoliosis, te mate ngakau, me te ngutu ngatata me te waha whati.

Ko te maimoatanga tika ka whakawhiwhia ki tāu tamaiti ka whakawhirinaki ki ngā wāhanga o tōna tinana e pāngia ana me ōna tohu. Tērā pea me toro atu rātou ki ētahi tohunga (hei tauira, he tohunga ngakau, he tohunga roro, he tohunga niho, he tohunga endocrinology, he tohunga gastroenterologist, he tohunga ārai mate, he tohunga ophthalmologist, he tohunga urologist rānei).

Kei te whakahaerehia ngā whakamātautau haumanu me ētahi atu rangahau hei kimi i te rongoā mō te pūtake o te mate Kabuki.

Mena kei taku tamaiti te mate Kabuki, me pēhea taku āwhina i a ia?

He mea noa te ohorere me te mataku ina rongo koe i tētahi mea pēnei. Engari kāore koe i te mokemoke. Ko te mea nui rawa atu ka taea e koe ko te ako i ngā mea katoa e taea ana e koe mō tēnei mate. Mahi tahi me te tākuta o tāu tamaiti kia kitea ai he aha tāu e taea ai te whakarato i te tiaki pai rawa atu mō tāu tamaiti. He tino āwhina hoki te whakauru atu ki ngā rōpū tautoko mō ngā whānau o ngā tamariki he mate onge tā rātou. I reira ka taea e koe te whakawhitiwhiti wheako ki ētahi atu mātua, te pātai, me te kimi whakamarie.

He aha te roanga o te oranga o te tangata e pāngia ana e te mate Kabuki?

Ko te āhua o te mate Kabuki me te roanga o te oranga o te tangata e pāngia ana e te mate Kabuki, e whakawhirinaki ana ki te kaha o tōna āhua. Ahakoa ka pā te mate ki ngā wāhanga maha o te tinana, ehara i te mea koinei tonu te āhua. Ko te rongoā i ngā tohu motuhake o te tamaiti me te ārai i ngā raruraru te mea nui hei whakapai ake i tōna heke mai.

Ka taea e ngā pakeke e pāngia ana e tēnei mate te ora i te roanga o te oranga noa. Ka taea e rātou te mahi i ngā mahi o ia rā, me te mahi wā-wāhanga. Heoi, he maha ngā wā ka hiahiatia he manaaki tautoko. Nā te mea he tino onge tēnei mate, kāore anō kia nui ngā rangahau mō te roanga o te oranga o te hunga e pāngia ana e te mate Kabuki. Nō reira, he pai ake te pātai atu ki te tākuta o tāu tamaiti mō te roanga o te oranga i runga i tōna āhua motuhake.

Hei whakamutunga, ngā mea hei maumahara

He mea whakamataku pea te mōhio kei te pāngia tō pēpi e te mate ira. Heoi, he rerekē rawa ngā tohu, te maimoatanga, me te matapae o te mate Kabuki i ia tangata, i ia tangata. Kōrero ki te tākuta o tō tamaiti kia mōhio ai koe ki te mate motuhake o tō tamaiti. Ka taea e ia te āwhina i a koe i tēnei haerenga. Ka taea hoki e ngā rōpū tautoko mō ngā whānau e pāngia ana e ngā mate ira onge te noho hei puna kaha nui. Ka taea e rātou te whakautu i ō pātai me te hoatu i te tumanako ki a koe mō te mate o tō tamaiti. Kaua rawa e noho mokemoke. Kaua e mangere ki te tiki i te āwhina e hiahiatia ana e koe.

`Te Mate Kabuki, Ngā Mate Ira, Ngā Mate Tamariki, Ngā Āhuatanga Kanohi, Ngā Raru Whakawhanaketanga, Te Whakawhanaketanga Hinengaro, Te Mate Kabuki, Ngā Mate Onge