He aha te Mate Crouzon? Me kōrero tāua mōna?

Kua pākiki koe, kua āwangawanga rānei mō te āhua o te upoko, o te mata rānei o tāu tamaiti? I ētahi wā, ka puta ngā āhuatanga ina tere rawa te hono o ngā wheua i roto i te angaanga o te pēpi. Ko tētahi āhuatanga onge engari he mea nui kia mōhiotia ko te Crouzon Syndrome. Me kōrero tātou mō tēnei i roto i tētahi huarahi māmā e mārama ai koe.

He aha te Mate Crouzon?

Ki te kī māmā noa, he mate ira onge te mate Crouzon. Ko te mea ka tupu, ka hono wawe ngā hononga muka e hono ana i ngā wheua o te angaanga o tō pēpi, e kiia nei ko ngā sutures. Ina tere rawa te hono o ngā wheua o te angaanga, kāore he wāhi nui o te upoko o te pēpi hei tipu tika. Ka kiia tēnei e ngā tākuta ko te craniosynostosis. Ka rerekē pea te āhua o te upoko me te mata o te pēpi. Ko te mate Crouzon tētahi noa iho o ngā mate craniofacial maha e pā ana ki te whanaketanga o te angaanga me te mata o te pēpi.

Ko wai ka pāngia e tēnei mate?

He mate ira te mate Crozon, nō reira ka pā ki te tangata katoa. Nā te huringa (whakarerekētanga) o te ira i puta ai, arā, kāore te ira e mahi tika. Ka taea te tuku iho i te mate Crozon mai i ngā mātua, ka taea rānei te puta hei whakarerekētanga ira hou.

Mena ka riro i tāu tamaiti te mate Crouzon, ko te tikanga kotahi anake o ngā mātua kei a ia te ira kua whakarerekētia, ā, kua tukuna ki te tamaiti. Ka kiia tēnei ko te tukunga iho "autosomal dominant". E 50%, e 50% rānei te tūponotanga o te whaea, o te pāpā rānei e pāngia ana e te mate Crouzon ki te tuku i te mate ki tā rāua tamaiti. Whakaarohia he rite ki te tūponotanga o te whiu moni me te whiwhi upoko.

I ētahi wā, ahakoa kāore ngā mātua i tēnei mate, ka puta he whakarerekētanga ira tūpono i roto i te hua manu o te whaea , i te parāoa rānei o te pāpā i te wā e whanake ana te pēpi, ka puta te mate Crozon. I tēnei wā, ehara i te mea tuku iho i ngā mātua. Ina koa mēnā he pakeke ake te pāpā i te 40-45 tau, he nui ake te tūponotanga ka puta he huringa ira hou i roto i ana pūtau parāoa.

He pēhea te noa o te mate Crozon?

He tino onge te mate Crozon. Tata ki te kotahi i roto i te 60,000 pēpi hou ka pāngia. Heoi, ko te mate Crozon te momo craniosynostosis tino noa. Tata ki te 4.8% o ngā take katoa o te craniosynostosis ko te mate Crozon.

He aha ngā tohu o te mate Crozon?

Ko te mate Crouzon te nuinga o te pānga ki te whanaketanga o te angaanga me ngā wheua kanohi o tō pēpi (ngā wheua angaanga-kanohi-kanohi). Tērā pea he tino ngawari ngā tohu ā-tinana o tēnei mate i roto i ētahi pēpi, ā, he paku kino ake i roto i ētahi atu. Kei roto i ēnei tohu:

• He tawhiti rawa te wehenga o ngā kanohi (hypertelorism).
• Te āhua o ngā kanohi e pū ana (proptosis). Me te mea kua whakanuia ngā kanohi.
• Ngā kanohi kua whiti (strabismus).
• Rae e kokiri ana.
• He iti te ihu, ā, he rite te āhua ki te ngutu.
• Kāore te kauae o raro e whanake tika ana.
• I ētahi wā ka pakaru te ngutu me/te waha rānei .

He aha ngā raruraru ka pā mai i tēnei?

Haunga ngā panonitanga ā-tinana e puta mai ana i te mate Crouzon, tera pea ka pāngia tō tamaiti e ētahi raruraru. He mea nui hoki kia mōhio koe ki ēnei:

• Ngā raruraru tirohanga: Ka pāngia te tirohanga e te āhua o te tūnga o ngā kanohi, e te pikinga rānei o te pēhanga i roto i te angaanga.
• Ngā raruraru niho: Nā te āhua o te whanaketanga o te kauae, ka puta pea ngā raruraru ki te āhua o te putanga mai o ngā niho me te āhua o tō rātou tūnga.
• Te ngoikore o te whakarongo: Ka pā te ngoikore o te whakarongo nā ngā pānga o ngā hanganga i roto i te taringa.
• Ngā uauatanga o te manawa: Ka uaua te manawa i ngā panonitanga o te ihu me te korokoro, inā koa i te wā e moe ana.
• Te Hydrocephalus: He āhuatanga tēnei e nui haere ai te wai e karapoti ana i te roro (CSF) ka piki ake te pēhanga i roto i te angaanga.
• He tino onge, ngā hauātanga hinengaro: Ahakoa he mea noa te mātauranga, tera pea ētahi tamariki he hauātanga ako.

He aha te take o te mate Crozon?

Ko te tino take o te mate Crouzon he panonitanga ira (whakarerekētanga ira) i roto i te ira e kiia nei ko te 'FGFR2' . He māmā noa iho, ka tohutohu tēnei ira 'FGFR2' i tō tātou tinana kia hanga he pūmua motuhake. Ko te ingoa o taua pūmua ko te '(fibroblast growth factor receptor)'. Ko te mahi a tēnei pūmua he āwhina i ngā pūtau kāore anō kia pakari o te pēpi kia huri hei pūtau wheua i a rātou e noho tonu ana i roto i te kōpū.

Heoi, ina puta he whakarerekētanga ira o te ira FGFR2, ka kaha rawa te mahi a te pūmua FGFR2. Kātahi ka huri wawe aua pūtau kāore anō kia pakari hei pūtau wheua . Nō reira, ka hono wawe ngā wheua angaanga o te pēpi.

Me pēhea te tātaritanga o te mate Crozon?

Ko te tikanga ka kitea tēnei mate i te whānautanga o tō pēpi, ina tirohia te pēpi e ngā tākuta. Ka tirotirohia katoatia te pēpi e te tākuta. Tērā pea kei te pane me te mata o te pēpi ngā āhuatanga angaanga-kanohi kua whakahuatia ake nei, e tohu ana pea i te mate Crouzon. Ka pātai atu anō hoki te tākuta mēnā kua pāngia tētahi o tō whānau e tēnei mate.

He aha ngā whakamātautau e mahia ana hei whakaū i te mate?

Tērā pea ka whakahaerehia e te tākuta ētahi atu whakamātautau hei whakaū i te aroaro o te mate Crouzon. Ko ngā whakamātautau matua ko:

• Matawai CT (Tomography Rorohiko - Matawai CT): Ka taea e tēnei te tango whakaahua whakawhiti-wāhanga o ngā hanganga i roto i te tinana o te pēpi. Mā tēnei ka āwhina i te kite i ngā mea pēnei i te āhua o te whakaritenga o ngā wheua o te angaanga me te āhua o te roro.
• Matawai MRI (Whakaahua Āhua-Matehiko - Matawai MRI): Ka taea hoki e tēnei te tango whakaahua whakawhiti-wāhanga taipitopito o ngā whekau me ngā kiko o te pēpi. He mea nui tēnei kia pai ake ai te mārama ki te roro me ētahi atu kiko ngohengohe.
• Whakamātautau ira ngota: Ka taea e ēnei whakamātautau ira te kite tika mēnā he whakarerekētanga ira kei roto i te ira FGFR2 kua whakahuatia i mua ake nei e hua ai te mate Crouzon.

Me pēhea te rongoā i te mate Crozon?

Ka rongoatia tō pēpi e tētahi tīma tākuta me ngā kaimahi hauora he whakangungu motuhake kei a rātou mō ngā mate angaanga me ngā kanohi . He rite ki tētahi tīma kirikiti. He kawenga tō ia tangata, engari ka mahi tahi te katoa kia puta ai te hua pai rawa atu mō tō pēpi. Kei roto pea i tēnei tīma:

• Te tākuta tamariki o tāu pēpi.
• He taote pokanga roro .
• He tākuta e tohunga ana ki te pokanga kirihou (te taote pokanga kirihou) .
• He tohunga niho .
• He kaitohutohu ira .
• He kaimahi hapori .
• He tohunga taringa, ihu me te korokoro (tākuta ENT - otolaryngologist)
• He tohunga whakarongo .
• He tākuta kanohi .

Pokanga (pokanga)

Ko te pokanga te maimoatanga matua mō te mate Crouzon . Ka mahia tēnei pokanga e te taote pokanga roro. E tumanakohia ana ka:

• Te waihanga i te wāhi tika mō te roro e tipu haere ana o te pēpi .
• Te whakaiti i te pēhanga koretake i roto i te angaanga.
• Te whakapai ake i te āhua me te āhua o te māhunga o te pēpi ki tētahi taumata .

I ētahi wā, e hiahiatia ana kia neke atu i te kotahi te pokanga, kei te āhua o te pēpi.

Te Whakaora Pōtae

Heoi, kāore e hiahiatia ana he pokanga mō ngā tamariki katoa . Mena he momo ngawari o te mate Crouzon tō tāu tamaiti, ka tūtohu pea te tākuta i te rongoā potae.Ka taea te tūtohu. Ko te mea ka tupu i roto i tēnei ko te hoatutanga o tētahi potae hauora i hangaia mō te pēpi. Ka whakatikatika haere tēnei potae i te āhua o te angaanga o te pēpi i roto i te wā.

Me pēhea te whakahaere i ngā tohu?

Haunga te maimoatanga, ka tūtohu pea te tīma hauora o tō pēpi i ētahi atu maimoatanga hei whakapai ake i te kounga o te oranga o tō pēpi.

• Whakaora hinengaro pāpori: Ka whakaratohia e ngā kaiwhakaora hinengaro pāpori (he maha ngā kaimahi pāpori) te tautoko hinengaro e hiahiatia ana e koe, e tāu tamaiti, me ētahi atu mema o te whānau. He mea tino nui taua tautoko ina pāngia koe e ngā wero pēnei.
• Tohutohu ira: Ka taea e ngā kaitohutohu ira te whakaū i te mate o tāu pēpi, me te tuku tohutohu anō hoki mō te āhua o te mate, ngā mea hei tumanakohia i te heke mai, me te pānga pea ki ētahi atu mema o te whānau.
• Whakaora tinana: Ka āwhina ngā kaiwhakaora tinana ki te whakapakari i ngā uaua me ngā uaua o te tamaiti, me te whakarato hoki i ngā mahi whakakori tinana hei whakanui ake i te ngāwari.
• Whakaora mahi: Ka āwhina ngā kaiwhakaora mahi ki te whakawhanake i ngā pūkenga nekeneke pai o te tamaiti (hei tauira, te hopu i ngā mea ririki), te tirohanga tirohanga, te whakaaro hinengaro, me te tukatuka i ngā kare ā-roto.
• Whakaora kōrero: Ka āwhina ngā kaiwhakaora kōrero i te tangata ki te wikitoria i ngā raruraru ki te kōrero, ki te reo, ki te whakawhitiwhiti kōrero, me ngā pūkenga whāngai me te horomi.

Ka taea te whakaiti i te mōrearea o te whānautanga o tētahi tamaiti me te mate Croson?

Nā te mea ko te mate Crozon te hua o tētahi whakarerekētanga ira onge, kāore he huarahi hei ārai i te puta o tēnei mate . Ka taea hoki te tupu noa i te wā e kore e kitea.

Ko te mea nui kia mārama koe ehara tēnei i te mea i mahia e koe, i kore rānei i mahia e koe i mua atu, i te wā rānei e hapū ana.

Heoi, ki te hiahia tētahi mātua he mate Croson ki te ārai i tā rātou tamaiti kei riro mai i te mate, ka taea e rātou te whakamahi i te hangarau whakatō in vitro (IVF) me te whakamātautau kukune . Kei reira te whai wāhi ki te whiriwhiri i ngā kukune hauora me te whakatō ki roto i te kōpū.

Mena kei te hapu koe i tētahi tamaiti ā muri ake nei, inā koa mēnā kei a koe te mate Crouzon, mēnā rānei kei roto i tō whānau tēnei mate , he mea pai kia kōrero koe ki tō tākuta mō ngā whakamātautau ira. Ka taea e te whakamātautau ira te aromatawai i tō mōrearea ki te whānau i tētahi tamaiti me tēnei mate ira.

He aha taku e tumanako atu ai mēnā he mate Crouzon tāku tamaiti?

He aha te āhua o te tamaiti e pāngia ana e te mate Croson i te heke mai?Kei te tere o te tautuhi mate me te angitu o te maimoatanga te mea e whakawhirinaki ana. Me aro tonu tō pēpi ki te hauora me te aroturukitanga hauora tonu (whai muri mai).

Heoi, ki te tīmata wawe te maimoatanga, ka taea e tō pēpi te noho i te oranga noa. Ahakoa he whakaroa pea te whanaketanga, he pai te IQ o te nuinga o te hunga e pāngia ana e te mate Croson. Nō reira, he mea nui kia noho tumanako tonu.

He aha te rerekētanga i waenga i te mate Crozon, te mate Apert, me te mate Pfeiffer?

He āhua pōhēhē pea te whakarongo ki ēnei ingoa, engari he mea pai kia mōhio ki ngā rerekētanga ngawari i waenganui i a rātou.

• Te Mate Apert: Pērā i te mate Crouzon, ko te mate Apert he āhuatanga e honoa ai ngā wheua o te angaanga (craniosynostosis) nā te whakarerekētanga ira i roto i te ira FGFR2. Heoi, he iti ake te kino o te mate Apert i te mate Crouzon. Haunga ngā āhuatanga angaanga o te mate Crouzon, tera pea he hononga, he hononga rānei o ngā maihao me ngā matimati o ngā pēpi e pāngia ana e te mate Apert. He poto pea ngā maihao, ā, he nui, he whānui pea te māhunga nui me te māhunga nui. He nui ake te kitea o te hauātanga hinengaro i roto i te mate Apert i tō te mate Crouzon.

• Te Mate Pfeiffer: He āhuatanga anō tēnei e kiia nei ko te craniosynostosis, i puta mai i te whakarerekētanga ira i roto i te ira FGFR2 (me te FGFR1 pea). E toru ngā momo matua o te mate Pfeiffer, he rerekē te kaha o ia momo. Kei ngā pēpi e pāngia ana e te mate Pfeiffer ngā āhuatanga o te upoko me te mata o te mate Crouzon. Hei tāpiri, he āhuatanga motuhake ngā maihao me ngā matimati poto, whānui. I roto i ngā momo 2 me te 3 o te mate Pfeiffer, he kino ake ngā āhuatanga o te upoko me te mata. He nui ake te kitea o ngā raruraru hinengaro me te pūnaha io i roto i ēnei momo.

He mea tino taumaha, he mea whakamataku hoki te rongonga he mate ira motuhake tō tō pēpi. He mea maori tēnā.

Heoi, ko te mea nui hei maumahara, ehara te mate Crouzon i te mate morearea, i te mate whakamate rānei.

Ka mahi tahi tētahi tīma tākuta tohunga me koe me tāu tamaiti kia puta ai te hua pai rawa atu. Mēnā ka kitea wawetia te mate, ā, ka rongoatia tika, ka tino ora pai tāu tamaiti i te ao noa.

Karere Whakamutunga mō te Tango ki te Kāinga

Āe, anei ētahi o ngā mea tino nui hei maumahara māu mai i ngā mea kua kōrerohia e tātou:

• He mate ira onge te Mate Crouzon, ā, e tohuhia ana e te hanumitanga tere o ngā wheua o te angaanga o te pēpi.
• TeneiKa taea te tuku iho i ngā mātua, ka puta rānei i tētahi huringa ira tūpono.
• Ka kitea ngā āhuatanga motuhake o te kanohi pērā i ngā kanohi e anga whakarunga ana, ngā kanohi e pūwero ana, me te rae e anga whakamua ana i tēnei.
• Ka kitea te mate mā te whakamātautau tinana, te matawai, me te whakamātautau ira .
• Ko te pokanga te maimoatanga matua, engari i ētahi wā ka whakamahia anō hoki te rongoā potae.
• He mea tino nui te tautoko a tētahi tīma tākuta tohunga me ngā momo maimoatanga whakaora hei whakapai ake i te kounga o te oranga o te tamaiti.
• Ehara tēnei i tōu he, he mea kē atu.
• Mā te tautuhi me te maimoatanga wawe, ka taea e te tamaiti te ora tonu i te roanga o te oranga, me te mātauranga pai anō hoki i ētahi wā.

Ko tāku tumanako ka whai hua ēnei mōhiohio ki a koe. Mēnā he pātai, he āwangawanga rānei āu, kaua e mangere ki te kōrero ki te tākuta.

` Te mate Crozon, ngā mate ira, ngā hakihaki, ngā mate tamariki, te pokanga, ngā āhua rerekē o te kanohi, te ira FGFR2