Kei tō tamaiti ēnei tohu? Me ako tātou mō te mate Shprintzen-Goldberg (SGS)

I tēnei rā ka kōrero tātou mō tētahi mate ira onge, arā, kāore e kitea e te katoa. Ko te ingoa o tēnei mate ko te Shprintzen-Goldberg Syndrome (SGS). Kāore pea koe i rongo i tēnei ingoa. Engari he mea nui kia mōhio koe ki ēnei mate, kia tere ai te mōhio ki ngā tohu, kia tere ai te whiwhi i ngā tohutohu hauora e tika ana.

He aha te mate Shprintzen-Goldberg (SGS)?

He whakarāpopototanga noa iho, ko te Shprintzen-Goldberg Syndrome (SGS) he mate ira onge e pā ana ki ngā wāhanga rerekē o te tinana. Ko te nuinga o te wā ka puta he āhua rerekē o te kanohi o te tamaiti, he hononga wawe o ngā wheua angaanga (e kiia ana tēnei ko te "Craniosynostosis"), he maha ngā huringa angaanga, he raruraru ki te roro me te pūnaha io (hei tauira, he whakaroa i te whanaketanga hinengaro), ā, i ētahi wā he hapa o te ngākau.

E rua atu ngā ingoa e whakamahia ana mō tēnei mate, ko te "Marfanoid-craniosynostosis syndrome" me te "Shprintzen-Goldberg craniosynostosis syndrome". Ahakoa te āhua uaua o ngā ingoa, ko te mea nui ko te mārama he mate ira tēnei.

He pēhea te noa o te SGS?

He tino onge te mate Shprintzen-Goldberg. Tae noa mai ki tēnei wā, he iti iho i te 50 ngā kēhi o tēnei mate kua whakahuatia i roto i ngā tuhinga hauora. Ko te tikanga he tokoiti noa iho ngā tāngata e pāngia ana e tēnei mate i te ao.

Ko tētahi atu āhuatanga o tēnei, he rite tonu ngā tohu o te SGS ki ētahi atu mate ira e rua e kiia nei ko te Marfan Syndrome me te Loeys-Dietz Syndrome, nō reira he uaua pea ki ngā tākuta te tautuhi tika i tēnei mate. Nō reira, he uaua ki te kī tika e hia ngā tāngata e pāngia ana e tēnei mate.

He aha te rerekētanga i waenga i te Mate Shprintzen-Goldberg, te Mate Marfan, me te Mate Loeys-Dietz?

Ahakoa te āhua ōrite o ngā tohu o ēnei āhuatanga e toru, he rerekē ngā whakarerekētanga ira i puta mai i ēnei. Ina koa, ko te hunga whai SGS he nui ake te tūponotanga ki te pāngia e te hauātanga hinengaro. He iti ake hoki te tūponotanga o te mate manawa i te hunga whai Marfan Syndrome me Loeys-Dietz Syndrome. Engari kia mahara, ka rerekē ēnei mea katoa i ia tangata, i ia tangata.

He aha ngā pūtake o te mate Shprintzen-Goldberg (SGS)?

I te nuinga o te wā, ko te tino take o te SGS he whakarerekētanga ira i roto i te ira e kiia nei ko te `(SKI)` i roto i tō tātou tinana. Ka whakaputahia e tēnei ira SKI he pūmua e āwhina ana i ngā tukanga nui maha i roto i ō tātou pūtau, pērā i te tipu, te wehenga, te nekehanga, te pakeketanga, me te mate.

Whakaarohia, nā te mea kei roto i ngā kiko rerekē o tō tātou tinana tēnei pūmua SKI, ki te puta he panoni i roto i tēnei ira, ka pā ki ngā wāhanga rerekē o te tinana. Koia te take e kitea ai ngā tohu rerekē i roto i te SGS.

Heoi, kāore ētahi o ngā tūroro SGS i te whai i te whakarerekētanga ira SKI, nō reira kei te rangahau tonu ngā kaipūtaiao i ētahi atu take pea o te mate i roto i ēnei momo take.

He mea tēnei nō ngā whakatipuranga?

I te nuinga o te wā, kāore te mate Shprintzen-Goldberg e tukuna ki te iwi.I te nuinga o te wā ka puta noa tēnei whakarerekētanga ira, arā, i muri i te haputanga, i te wā o te kukune. Nō reira, he maha ngā tāngata kua pāngia e tēnei mate kāore he hītori whānau mō te mate.

Heoi, he tino onge te tukunga o te mate mai i te mātua ki te tamaiti. Mēnā ka tukuna iho, he momo ira matua-autosomal. He māmā noa iho, ko te tikanga ahakoa ka riro i te tamaiti tētahi tārua o te ira kua whakarerekētia mai i te mātua kotahi anake, ka taea tonu e te tamaiti te whakawhanake i te mate.

He aha ngā tohu o te mate Shprintzen-Goldberg (SGS)?

Ka rerekē ngā tohu o te SGS i ia tangata, i ia tangata. He ngawari noa iho ngā tohu o ētahi tāngata, engari he kino rawa atu pea ngā tohu o ētahi atu. Ka pāngia pea ngā wāhanga rerekē o te tinana e ēnei tohu.

Ngā tohu o te hononga wawe o ngā wheua angaanga (`(Craniosynostosis)`):

Ki te honoa wawe ngā wheua o te māhunga o te pēpi, i roto rānei i te kōpū, i te whānautanga rānei, ka puta he mate e kiia nei ko te "Craniosynostosis", ka puta ngā tohu pēnei i:

• He upoko roa, whaiti.
• Te tawhiti nui ake i waenganui i ngā kanohi, te kanohi e pū ana ki mua, e piko ana rānei ki raro.
• He waha teitei, whaiti (te tihi o te waha).
• He rae teitei, he rae pūangi.
• He matau iti o raro.
• Kua whakatakotoria ngā taringa ki raro i te āhua noa, ā, i ētahi wā ka hurihia ki muri.

Ētahi atu āhuatanga rerekē o te angaanga:

Haunga tēnei, ka kitea anō hoki ētahi atu huringa o te angaanga pēnei i:

• Te nekehanga nui o ngā hononga.
• Waewae karapu.
• Te uma e toro ana ki mua, kua totohu ranei ki roto (Pectus excavatum/carinatum).
• Te korokoro.
• Ngā maihao piko tonu (`(Camptodactyly)`).
• He roa ake i ngā ringa me ngā waewae noa.
• He maihao roa, angiangi (`(Arachnodactyly)`). E ai ki ētahi he rite te āhua ki ngā waewae o te pūngāwerewere.

Tērā pea ka pāngia ētahi atu tāngata e ēnei tohu:

• Ngā āhuatanga rerekē o te roro, hei tauira, te nui rawa o te wai i roto i te roro (hydrocephalus).
• Ngā whakaroa whanaketanga me ngā hauātanga hinengaro ngawari ki te taurite.
• Ngā raruraru o te pūnaha nakunaku, hei tauira te mate kōroke, te whakaroa rānei i te whakawātea i te puku (Gastroparesis).
• Ngā hernia o te puku, o te hope rānei (`(Hernias)`).
• Te angiangi o te kiri, me te mea e kitea ana mā roto, ā, ka ngawari te puta o ngā marō.
• Te uaua ki te manawa.
• Te ngoikore o te uaua (`(Hypotonia)`). Ko te tikanga tēnei he āhua e kore ai e ora te tinana.

Ngā tohu o te ngākau onge:

Kāore ēnei e pā ki te katoa, engari ka pāngia pea ētahi tāngata e ngā mate ngakau pēnei i ēnei:

• Te aneurysm aortic (he ngoikore o te pakitara o te aorta).
• Ka rere whakamuri te toto nā te mea kāore te takirere aorta e kati tika (Aortic regurgitation).
• Te whakanui i te pūtake o te aorta (`(Te whakawhanuitanga o te pūtake aorta)`).
• Te turuturu o te toto mai i te takirere o te ngākau (`(Mitral valve regurgitation)`).
• Te hekenga o te takirere mitral (te mahi hē a te takirere mitral o te ngākau).

Ko te mea nui, ehara i te mea kei ngā tūroro SGS katoa ēnei tohu katoa. Tērā pea he torutoru noa iho o ēnei tohu kei ētahi tāngata, ā, ka rerekē pea te kaha o ngā tohu.

Me pēhea te tautuhi i te mate Shprintzen-Goldberg Syndrome (SGS)?

He uaua te tautuhi i te SGS. E ai ki taku kōrero i mua, nā te mea he mate onge, ā, ka taea te pohehe ki te Marfan Syndrome, ki te Loeys-Dietz Syndrome rānei, ka taea te whakaroa i te tautuhi i ētahi wā.

Ka whakatakoto te tākuta i te tātaritanga i runga i ngā tohu me ngā tohu. Ko te tikanga o tēnei me āta tirotiro i te āhua o te tamaiti, tōna whanaketanga, me ētahi atu raruraru hauora. I ētahi wā ka taea e ngā whakamātautau ira te whakaū i te whakarerekētanga ira SKI. Heoi, nā te mea ka taea hoki e te hunga kāore i te whai i tēnei whakarerekētanga ira te pāngia e te SGS, kāore he whakamātautau motuhake hei āwhina i te tātaritanga.

Me pēhea te rongoā i te mate Shprintzen-Goldberg (SGS)?

Engari, kāore anō kia kitea he rongoā motuhake mō tēnei mate i tēnei wā. Ko te whāinga matua o te maimoatanga mō te mate Shprintzen-Goldberg ko te whakahaere i ngā tohu me te āwhina i te tūroro kia ora i te oranga pai rawa atu.

Ka rerekē pea ngā kōwhiringa maimoatanga, i runga i ngā tohumate o te tūroro. Anei ētahi tauira:

• Mā te mau i ngā tautoko waewae, tuara rānei (`(ngā tautoko)` e māmā ake ai te hikoi.
• Whakamahia he ngongo whāngai, mēnā e tika ana, hei whakarite i te kai tika.
• Te whakahaere i ngā rongoā hei rongoā i ngā mate o te ngākau.
• He pokanga hei whakatika i ngā hapa o te ngākau, i ngā raruraru angaanga rānei i te angaanga, te tuaiwi, te uma rānei.
• Mena ka āraia te ara manawa, ka taea te pokanga (tracheostomy) ki mua o te kaki.

Waihoki, ka tūtohu pea tō tākuta i ēnei whakamātautau kotahi i te tau, i ia rua tau rānei, kia taea ai e rātou te āwhina i a koe ki te kite mēnā he huringa kei roto i tō āhua:

• Whakamātautau kiato wheua.
• He whakamātautau echocardiogram hei aroturuki i te mahi o te ngākau.
• Ngā whakamātautau angiography aukume (MRA) me te angiography tomography rorohiko (CTA) hei tirotiro i ngā oko toto.
• Tirohia mēnā he huringa kei roto i te angaanga (ngā hihi-X).

Tērā pea ka hiahiatia he rōpū tohunga hei rongoā i tētahi tangata e pāngia ana e te mate Shprintzen-Goldberg. Tērā pea kei roto i tēnei rōpū ngā tohunga pēnei i:

• Tākuta ngakau
• Taote pokanga angaiwi (taote pokanga wheua o te upoko me te kanohi)
• Tohunga ira
• Taote pokanga roro me te pūnaha io (`(Taonga Pokanga)`)
• Kaiwhakaora mahi - He tangata e āwhina ana i te tangata ki te mahi i ngā mahi o ia rā kia māmā ake.
• Tākuta kanohi - mō ngā raruraru tirohanga (hei tauira, te myopia).
• Taote pokanga waha - Mō ngā raruraru e pā ana ki ngā niho me ngā kauae.
• Taote pokanga wheua, hononga me te tuaiwi
• Tākuta tamariki
• Kaiwhakaora tinana - He tangata e āwhina ana ki te whakapai ake i te nekehanga me te mahi ā-tinana.
• Kaimātai hinengaro
• Kaiwhakaahua hihi (`(Whakaahua hihi)`) - mō te whakaahua hauora.
• Kaiwhakaora kōrero (`(Kaiwhakaora kōrero)`) - mō ngā uauatanga kōrero.

Mā te āwhina a ēnei tāngata katoa ka taea e tātou te whakarato i te maimoatanga me te manaaki pai rawa atu ki te tūroro.

Ka taea te ārai i te mate Shprintzen-Goldberg (SGS)?

Kāore he huarahi i tēnei wā hei ārai i te whakarerekētanga ira e hua ai te mate Shprintzen-Goldberg. Nā te mea he maha ngā wā ka puta noa mai. Waihoki, kāore anō kia tino mārama ngā kaipūtaiao he aha atu ngā āhuatanga e whai wāhi ana ki tēnei mate i tua atu i te ira SKI.

He aha te roanga o te oranga mō te hunga e pāngia ana e te mate Shprintzen-Goldberg (SGS)?

Ko te roanga o te oranga (prognosis) o te tangata whai SGS e whakawhirinaki ana ki te kaha o te mate. Mēnā he ngawari ngā tohu, kāore pea e tino pāngia te roanga o te oranga. Heoi, mēnā he nui te pānga ki te roro, te ngākau, te pūnaha nakunaku rānei, ka whakapotohia pea te roanga o te oranga.

He aha atu anō ngā mea hei pātai atu māku ki taku tākuta mō te mate Shprintzen-Goldberg (SGS)?

Ina kitea e koe kei te pāngia tāu tamaiti e te mate Shprintzen-Goldberg, tera pea he maha āu pātai. I ēnei wā, he mea pai kia pātai atu ki tō rōpū hauora i ngā pātai pēnei i:

• He tuku iho tēnei whakarerekētanga ira, he mea tūpono noa iho rānei?
• He aha ngā pūnaha o te tinana o te tamaiti ka pāngia e tēnei mate?
• He aha te maimoatanga e hiahiatia ana e taku tamaiti?
• He aha ngā tohu, ngā āhuatanga rānei e hiahia ana kia rapua he awhina hauora ohorere?
• Ka pāngia taku tamaiti e ngā whakaroa whanaketanga, e ngā hauātanga hinengaro rānei?
• Ka whakapotohia rānei e tēnei āhuatanga te roanga o te oranga o taku tamaiti?
• He aha te momo tohunga me toro atu mātou? Kia pēhea te auau?
• Me tirotirohia ngā wheua, te ngākau, ngā uaua toto, me te roro o taku tamaiti i ia wā, i ia wā?
• He rōpū tautoko kei reira hei āwhina i a tātou kia ora me tēnei mate?
• E taunaki ana koe i te tohutohu ira, i te whakamātautau rānei?

Ahakoa he mate ira onge te mate Shprintzen-Goldberg, he mea nui kia mōhio koe ki tēnei mate, ā, me rapu tohutohu hauora i te wā e taea ai. Ki te whakaaro koe kei tō tamaiti ēnei tohu, tēnā whakapā atu ki tētahi tohunga mō te tātaritanga tika.

Hei whakamutunga, kia maumahara ki tēnei (Karere hei tango ki te kāinga)

He tino onge te mate ira o te tamaiti, arā, te Shprintzen-Goldberg Syndrome (SGS), ā, ka taea e ia te whakarerekē i te mata, te angaanga, te roro, tae atu pea ki te ngākau.Ka taea tēnei te tuku iho, ka taea rānei te puta noa mai.

Ahakoa kāore he rongoā, he maha ngā maimoatanga e wātea ana hei āwhina i te whakahaere i ngā tohu. Mā te tautoko a tētahi rōpū tohunga, ka taea e tāu tamaiti te ora pai rawa atu. Ki te whakaaro koe kei tāu tamaiti ēnei tohu, kaua e wehi ki te kōrero ki tētahi tākuta. Mā te tautuhi wawe me te maimoatanga tika ka nui te rerekētanga. Kia mahara, kāore koe i te mokemoke. He rōpū tautoko me ngā rauemi e wātea ana hei āwhina i ngā whānau e pāngia ana e ēnei āhuatanga.

` Te Mate Shprintzen-Goldberg, SGS, Ngā Mate Ira, Te Craniosynostosis, Te Ira SKI, Ngā Āhuatanga Hē o te Angaiwi, Ngā Whakaroa o te Whanaketanga, Ngā Mate Onge