He aha te Mate DiGeorge? Ngā Tōmhanga, Ngā Take, me te Maimoatanga

Ko te mate DiGeorge tētahi āhuatanga ira tuku iho e puta mai ana i te ngaro o tētahi wāhanga iti o te karōmēra 22. Ko tēnei wāhanga ngaro e pā ana ki te whānautanga o ētahi wāhanga o tō tinana i mua i te whānau, inā koa tō pūnaha mate, ngā ngākau, me ngā whekau parathyroid.

E tata ana ki te 1 i te 4,000 o ngā pēpi e whānau ana me tēnei āhuatanga. Ahakoa ka rongo pea koe i te nui o te āwangawanga i te tīmatanga, he tokomaha ngā tāngata e ora ana me te mate DiGeorge me te ora roa, hauora me te tiaki hauora tika me te tautoko.

He aha te Mate DiGeorge?

Ka puta te mate DiGeorge ina ngaro i tō tinana tētahi wāhanga iti o ngā rauemi ira i runga i te karōmēra 22. Ko tēnei muhumuhu e pā ana ki te whānautanga o ētahi pūnaha o te tinana i te wā hapu.

E mohiotia ana hoki te āhuatanga hei mate muhumuhu 22q11.2, te mate velocardiofacial rānei. Ko ēnei ingoa rerekē katoa e tohu ana ki te tauhohenga ira kotahi, ahakoa ka whakamahi pea ngā tākuta i ngā kupu rerekē kei te tino kitea ngā tohumānga.

Ko te rauemi ira ngaro kei roto ngā tohutohu mō te hanga i ngā pūmua e āwhina ana i tō tinana ki te whānautanga tika. Ki te kore enei tohutohu, ka pā pea ki tō whekau thymus, ngā whekau parathyroid, ngā ngākau, me ngā āhuatanga o te mata.

He aha ngā tōmhanga o te Mate DiGeorge?

Ka rereke haere ngā tōmhanga o te mate DiGeorge mai i te tangata ki te tangata. He iti ngā tōmhanga o ētahi tāngata kaore rātou e pā ki to rātou oranga o ia rā, engari ka nui ake pea ngā hiahia hauora o ētahi atu.

Ko ēnei ngā tōmhanga tino noa ka kitea e koe:

• Ngā mate maha nā te raru o te pūnaha mate
• Ngā hapa o te ngākau ka pā pea ki te uaua o te manawa, te kai rānei i ngā pēpi
• Ngā taumata kōhi iti e pā ana ki te mamae o ngā uaua, te hopu rānei
• Te ngutu waha, ētahi atu raru kai rānei
• Ngā āhuatanga o te mata penei i te ihu iti, te kanohi pōturi rānei
• Ngā whakaroa kōrero, ngā uaua ako rānei
• Ngā raru whatukuhu
• Te ngaro o te rongohere

He tokomaha ngā tamariki me te mate DiGeorge e pā ana ki ngā whakaroa whanaketanga. Ka haere pea rātou, ka kōrero rānei i muri i ētahi atu tamariki, ka hiahia rānei ki te tautoko atu ki te ako me ngā pūkenga whānau.

Ka whanake pea ētahi tāngata i ngā āhuatanga hauora hinengaro penei i te awangawanga, te pouri, te ngāwari rānei ki te aro ki te wā e tipu haere ana. Ka taea te whakahaere i ēnei wero me te tautoko tika me te maimoatanga.

He aha ngā take o te Mate DiGeorge?

Ko te take o te mate DiGeorge ko te ngaro o tētahi wāhanga o te karōmēra 22. Ka puta tenei muhumuhu i te wā e hanga ana ngā pūtau whakaputa uri, i te tīmatanga o te haputanga rānei.

I te 90% o ngā take, ka puta tenei tauhohenga ira i te wā. Ko te tikanga kaore tētahi o ngā mātua e mau ana i te muhumuhu, ā, ehara i te mea ka taea e rātou te aukati, te whakatau rānei.

Heoi, i te 10% o ngā take, ka mau tētahi o ngā mātua i te muhumuhu ka taea te tuku ki tō rātou tamaiti. Ki te mate DiGeorge koe, he 50% te tūponotanga ka taea te tuku ki ia tamaiti.

Kāore te muhumuhu i te puta mai i tetahi mea e mahi ana ngā mātua i te wā hapu. Kāore e pā ana ki te kai, te noho ora, ngā rongoā, ngā āhuatanga taiao rānei.

Nōhea te haere ki te tākuta mō te Mate DiGeorge?

Me whakapiri atu koe ki tō tākuta ki te kite koe i ngā tohu o ngā mate maha, ngā uaua kai, ngā whakaroa whanaketanga rānei i tō tamaiti. Ka taea e te taumata whakamātautau me te maimoatanga te whakarereke nui i ngā hua.

Rapua te tiaki hauora tonu ki te pāngia tō tamaiti e ngā hopu, ngā raru manawa nui, ngā tohu rānei o te mate kino penei i te kirika nui, te uaua o te manawa rānei.

Ki te hapu koe, ā, kei a koe te mate DiGeorge, ka taea e te tohutohu ira te āwhina i a koe ki te mārama ki ngā tūponotanga me te whakarite mō te tiaki a tō pēpi.

He mea nui ngā tirotiro auau mō te tangata katoa me te mate DiGeorge, ahakoa ngā tōmhanga iti. Ka taea te aukati, te maimoatanga rānei i ngā raru maha ina kitea wawe.

He aha ngā tūponotanga mō te Mate DiGeorge?

Ko te tūponotanga matua mō te mate DiGeorge ko te mau i te muhumuhu 22q11.2 e tētahi o ngā mātua. Ki te mau tētahi o ngā mātua i te āhuatanga, he 50% te tūponotanga o ia tamaiti ki te whiwhi.

Ka piki ake te tūponotanga o te pakeketanga o te whaea, engari ka puta te mate DiGeorge i ngā haputanga i tetahi tau. Ko te nuinga o ngā take ka puta i ngā whānau kaore he hītori o mua o te āhuatanga.

Kāore he āhuatanga noho ora, taiao rānei e piki ake ai tō tūponotanga ki te whānau i tētahi tamaiti me te mate DiGeorge. Ka puta te muhumuhu ira i te wā i te nuinga o ngā take.

He aha ngā raru pea o te Mate DiGeorge?

Ko te mārama ki ngā raru pea ka taea te āwhina i a koe me tō rōpū hauora ki te mataara mō ngā raruraru me te whakaoti wawe. Kia mahara kaore te katoa o ngā tāngata me te mate DiGeorge e pā ana ki ēnei raru katoa.

Ko ngā raru noa e whai ake nei:

• Ngā mate maha nā te ngoikore o te pūnaha mate
• Ngā raru ngākau e hiahia ana ki te pokanga, te mataara tonu rānei
• Ngā taumata kōhi iti e pā ana ki ngā hopu, ngā raru uaua rānei
• Ngā whakaroa kōrero me te reo
• Ngā uaua ako, ngā wero hinengaro rānei
• Ngā take whānau, hauora hinengaro rānei

Ko ngā raru iti ake, engari nui ake te kino pea:

• Te ngoikore o te pūnaha mate e hiahia ana ki te whakawhiti wheua wheua
• Ngā hapa ngākau e wehi ana ki te ora
• Ngā raru whatukuhu nui
• Ngā mate ā-tinana e whakaeke ana te tinana i ōna ake ngā pūtau
• Te mate schizophrenia, ētahi atu āhuatanga hinengaro rānei i te pakeke

Ka taea e te mataara auau me te tiaki ārai te āwhina i te hopu me te maimoatanga i te nuinga o ēnei raru i mua i te kino.

Me pēhea te whakamātautau i te Mate DiGeorge?

Ka whakamātautauhia te mate DiGeorge mā te whakamātautau ira e titiro ana ki te wāhanga ngaro o te karōmēra 22. Ka taea te mahi i tēnei whakamātautau mā te tauira toto ngāwari.

Ka whakaaro pea tō tākuta i te mate DiGeorge i runga i ngā tohu tinana penei i ngā hapa ngākau, ngā āhuatanga o te mata, ngā mate maha rānei. Ka ui atu rātou ki tō hītori whānau me ngā tohu whanaketanga.

Ka uru pea ngā whakamātautau atu ki te mahi toto hei tirotiro i ngā taumata kōhi me te mahi pūnaha mate, te whakaahua ngākau hei titiro ki ngā hapa, me ngā whakamātautau rongohere, whatukuhu rānei i runga i ō tohumānga.

Ka taea e te whakamātautau ira, te whakamātautau microarray karōmēra rānei, te whakamātautau FISH, te whakau i te taumata whakamātautau me te tika tata ki te 100%. Ko ngā hua ka roa pea i te torutoru rā ki te wiki.

He aha te maimoatanga mō te Mate DiGeorge?

Ko te maimoatanga mō te mate DiGeorge e aro ana ki te whakahaere i ngā tohumānga motuhake me te aukati i ngā raru. Kāore he rongoā mō te āhuatanga ira anō, engari ka taea te whakahaere pai i ngā tohumānga maha.

Ko ngā maimoatanga noa e whai ake nei:

• Ngā taapiri kōhi me te hua D mō ngā taumata kōhi iti
• Ngā rongoā antibiotic hei aukati i ngā mate
• Te pokanga ngākau mō ngā hapa ngākau
• Te rongoā kōrero mō ngā whakaroa whakawhitiwhiti kōrero
• Ngā ratonga mātauranga motuhake mō ngā uaua ako
• Te tautoko hauora hinengaro mō ngā wero whānau

Ka hiahia pea ētahi tāngata me ngā raru pūnaha mate nui ki ngā maimoatanga nui ake penei i te rongoā immunoglobulin, i te whakawhiti thymus rānei i etahi wā.

Ka tino whai rōpū hauora koe i ngā tohunga penei i ngā kaitōhutohu ngākau, ngā kaitōhutohu pūnaha mate, ngā kaitōhutohu endocrinology, me ngā tohunga tamariki whanaketanga. Ka mahi tahi rātou ki te hanga i tētahi mahere tiaki whānui e rite ana ki ō hiahia motuhake.

Me pēhea te whakarato i te tiaki kāinga i te wā o te Mate DiGeorge?

Ko te tiaki kāinga e aro ana ki te aukati i ngā mate, te tautoko i te whanaketanga, me te pupuri i te hauora pai. Ka taea e ngā mahi o ia rā ngāwari te whakarereke nui ki tō kounga ora.

Hei aukati i ngā mate, whakamahia te horoi ringa pai, kaua hoki e haere ki ngā wāhi nui i te wā e puta mai ana ngā mate. Pupurihia ngā whakakakahu e tūtohutia ana, ahakoa kaore pea ētahi whakakakahu ora e tika ana i runga i tō mahi pūnaha mate.

Tautokohia te whanaketanga kōrero me te reo mā te pānui tahi, te waiata waiata, te whakatenatena rānei i te kōrero. Ka taea e ngā ratonga whakauru wawe te whakarato tautoko atu ki te kāinga.

Mataarahia ngā tohu o te kōhi iti penei i te mamae o ngā uaua, te wiri, ngā hopu rānei. Tangohia ngā taapiri i whakaritea tonu, pupurihia hoki ngā wā kai auau.

Hangaia tētahi taiao tautoko mō te ako me te whanaketanga. Ka uru pea tenei ki ngā kaupapa whakairoiro, ngā mahi auau, te wehewehe rānei i ngā mahi ki ngā waahanga iti.

Me pēhea te whakarite mō tō hui tākuta?

I mua i tō hui, tuhituhia ngā tohumānga katoa kua kitea e koe, tae atu ki te wā i tīmata ai rātou me te maha o ngā wā e puta mai ana. Ka āwhina tenei i tō tākuta ki te mārama ki te pikitia katoa.

Kawe mai tētahi rārangi o ngā rongoā me ngā taapiri katoa e tangohia ana e koe, tae atu ki ngā rāpoi me te maha o ngā wā e tangohia ana e koe. Tuhia hoki ngā mate pāwera, ngā tauhohenga rongoā rānei.

Whakaritea ngā pātai mō tō mahere tiaki, ngā tohumānga hei mataara, me te wā hei rapu i te tiaki hauora tonu. Kaua e whakaroa ki te ui atu ki tetahi mea e awangawanga ana koe.

Ki te kite koe i tētahi tohunga hou, kawe mai ngā tārua o ngā hua whakamātautau hou me te whakarapopototanga o tō hītori hauora. Ka āwhina tenei i a rātou ki te mārama wawe ki tō āhuatanga o nāianei.

He aha te mea nui mō te Mate DiGeorge?

Ko te mate DiGeorge tētahi āhuatanga ira tuku iho e taea te whakahaere e pā ana ki ngā tāngata rerekē. Me te tiaki hauora tika me te tautoko, he tokomaha ngā tāngata me tēnei āhuatanga e ora ana me te ora roa, hua.

He mea nui te taumata whakamātautau me te maimoatanga mō ngā hua pai. Ka āwhina te mataara auau ki te hopu me te maimoatanga i ngā raru i mua i te kino.

Kia mahara kaore te mau i te mate DiGeorge e whakatau i a koe, i tō tamaiti rānei. Ahakoa ka puta mai pea ētahi wero, ka puta mai hoki ngā kaha me ngā tirohanga motuhake e whai wāhi ana ki tō whānau me tō hapori.

Hononga atu ki ngā rōpū tautoko me ngā rauemi i tō rohe. Ka taea e ētahi atu whānau e whakahaere ana i te mate DiGeorge te whakarato i ngā whakaaro, te whakatenatena, me ngā tohutohu mahi.

Ngā pātai e ui pinepinetia ana mō te Mate DiGeorge

He tuku iho te mate DiGeorge?

E tata ana ki te 90% o ngā take o te mate DiGeorge ka puta i te wā, ko te tikanga kaore tētahi o ngā mātua e mau ana i te muhumuhu ira. Heoi, i te 10% o ngā take, ka taea te tuku i tētahi mātua e mau ana i te āhuatanga. Ki te mate DiGeorge koe, he 50% te tūponotanga o te tuku ki ia tamaiti.

Ka taea te kite i te mate DiGeorge i te wā hapu?

Ae, ka taea te kite i te mate DiGeorge i te wā hapu mā te whakamātautau ira penei i te amniocentesis, te tauira chorionic villus rānei. Ka whakaatu pea te ultrasound i ngā hapa ngākau, ētahi atu āhuatanga rānei e tohu ana ki te āhuatanga. Heoi, kāore ngā take katoa e kitea i mua i te whānau.

He aha te roa o te ora mō te tangata me te mate DiGeorge?

Ka rereke haere te roa o te ora i runga i te nui o ngā tohumānga, inā koa ngā hapa ngākau me ngā raru pūnaha mate. He tokomaha ngā tāngata me ngā tohumānga iti e ora ana me te roa o te ora, engari ka nui ake pea ngā wero o te hunga me ngā raru nui. Ka pai ake ngā hua o te taumata whakamātautau me te tiaki hauora whānui.

Ka taea e taku tamaiti me te mate DiGeorge te haere ki te kura noa?

He tokomaha ngā tamariki me te mate DiGeorge ka taea te haere ki te kura noa me ngā ratonga tautoko tika. Ka hiahia pea ētahi ki ngā ratonga mātauranga motuhake, ngā whakaritenga rānei mō ngā rerekētanga ako. Ko te mea nui ko te mahi tahi me tō rohe kura ki te whakawhanake i tētahi mahere mātauranga takitahi e rite ana ki ngā hiahia motuhake a tō tamaiti.

Ka kino ake pea te mate DiGeorge i te wā?

Kāore te mate DiGeorge anō e kino ake, engari ka whanake pea ētahi raru, ka rerekē rānei i te wā. Hei tauira, ka puta mai pea ngā take hauora hinengaro i te taitamariki, te pakeke rānei. Ka āwhina te mataara hauora auau ki te kite me te whakaoti i ngā wero hou i te wā e puta mai ana. Ko te nuinga o ngā tohumānga ka pai ake me te maimoatanga tika me te tautoko.