Kei te kitea tēnei momo huringa i ngā kamo o tāu pēpi? Me ako tātou mō te (Blepharophimosis Syndrome)!

I ētahi wā, kua kite pea koe he rerekē te tūnga o ngā kamo o ngā pēpi nohinohi. Tērā pea he iti te whakatuwheratanga o ngā kanohi, he āhua rānei kei te piko ngā kamo. Mēnā ka kite koe i tētahi mea pēnei, ka mataku koe hei whaea. I ēnei wā, he mea nui kia mōhio koe ki tēnei āhuatanga ka kōrerohia e tātou, arā, te Blepharophimosis Syndrome.

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

He āhuatanga ira tēnei e pā ana ki te āhua o te hanganga o ō kamo. Whakaarohia, ko ō tātou kamo te wāhanga tino nui e tiaki ana i te kanohi. Nō reira, ko te whakatuwheratanga o ngā kanohi o te tangata whai mate pēnei, arā, ko te āputa i waenganui i ngā kanohi, he whaiti ake i te tangata noa. Waihoki, ko te kamo o runga he rite ki ngā kamo e takoto kau ana . Ko tētahi atu mea, i te taha o roto o te kanohi, arā, i te taha o te ihu, ka kitea he kopa iti o te kiri mai i te kamo o raro ki te kamo o runga.

Ko te take o tēnei he panonitanga o te ira e kiia nei ko te 'FOXL2', e kīia ana rānei e ngā tākuta , he whakarerekētanga ira . Ko tētahi atu mea nui, ka pāngia pea ngā ovaries o ngā wāhine e pangia ana e tēnei 'Blepharophimosis Syndrome'.

Tērā tētahi atu ingoa roa e whakamahia ana e ngā tākuta mō tēnei, ko te 'Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome'. Ka kiia hoki ko te 'BPES' mō te poto. Ka kiia pea e ētahi ko te 'small eye opening syndrome' . He mate whānau tēnei, arā, ka taea e te pēpi te kite i ēnei tohu i te whānautanga.

Ko te kupu "blepharophimosis" e whakahuatia ana ko "bleph-a-ro-phi-mo-sis." He ahua uaua te tangi, kāore? Engari kāore he aha, me kī noa ko 'BPES' hei whakamāmā.

He momo pēnei kei reira? (Ngā momo BPES)

Āe, e rua ngā momo matua o ēnei 'BPES'. Ko te Momo I me te Momo II .

Anei ētahi āhuatanga noa o ngā momo e rua:

• Ngā puare o ngā kanohi he iti iho i te mea noa (blepharophimosis) .
• Ngā kamo e takoto kau ana (ptosis) .
• Ngā kanohi e wehea ana i tawhiti atu i te mea noa (telecanthus) .
• He kopa kiri e piko ana ki runga i te taha o roto o te kamo o raro, arā, ki te ihu (epicanthus inversus) .

Nā, kia tirohia tātou he aha ngā rerekētanga motuhake i waenga i ēnei momo e rua.

Momo BPES I

Mena kei a koe te BPES momo I, ka puta he āhuatanga e kiia nei ko te Primary Ovarian Insufficiency (POI) . Ka kiia hoki tēnei e ētahi ko te "premature ovarian failure". He māmā noa iho, ko te wā tēnei ka mutu ai te mahi a ngā ovaries o te wahine i mua i te wā e tika ana.

BPES Momo II (BPES Momo II)

Engari, ki te mea kei a koe te BPES momo II, kāore e puta he raruraru pūnaha kē atu i roto i tō tinana, arā, ko ētahi atu raruraru nui ka pā ki te tinana katoa. Ko ngā tohu anake e kitea nuitia ana ko ngā mea e pā ana ki ngā kanohi.

He pēhea te noa o te mate blepharophimosis?

Ao whānui, e kitea ana tēnei 'Blepharophimosis Syndrome' i te tere o te kotahi i roto i te 50,000 whānautanga . Ko te tikanga he mate onge tēnei.

He aha ngā tohu me ngā āhuatanga o te mate blepharophimosis?

Ko ngā tohu o tēnei 'Blepharophimosis Syndrome' ka pā ki te āhua o ō kanohi. Kia maumahara ki ngā tohu matua e whā i kōrerohia e tātou i mua ake nei:

• Ngā puare iti o ngā kanohi.
• Ngā kamo e takoto kau ana ( Ptosis ).
• He whānui ngā kanohi (Telecanthus).
• He kopa kiri e piko ana ki runga i ngā kamo o roto o raro (Ngā kamo o roto o raro e piko ana - Epicanthus Inversus).

Whakaarohia, ka taea e ēnei tohu te whakarerekē i te āhua o te mata o te pēpi. He mea noa ki ngā mātua te āwangawanga ina kite rātou i tēnei. Engari kaua e manukanuka, he mea anō kei reira hei whakatika i tēnei.

Haunga ēnei āhuatanga matua, ka kitea ētahi atu āhuatanga:

• Te ectropion (te tahuritanga o te karu ki waho).
• Ko te matapōkere, e mōhiotia ana ko ngā "kanohi whiti ", he āhuatanga e whiti ai ngā kanohi.
• Ko te amblyopia , e puta mai ana i te kamo e takoto ana, e aukati ana i te tirohanga. Hei whakamārama tika, ka aukati te kamo i te tirohanga.
• Ko ngā taringa kuiti , e mōhiotia ana ko ngā "taringa kapu" ko ngā "taringa poroporo rānei," ko tōna tikanga ka miro pea ngā taha o ngā taringa, ka piko rānei ki raro.
• Taringa iti.
• He piriti whānui o te ihu.
• He iti ake i te tikanga te āputa i waenganui i te ihu me te ngutu o runga.
• Ko te hunga whai momo I he ngoikore o te whatukuhu tuatahi (POI).

He aha tēnei ka puta? He aha ngā take? (He aha ngā take o te mate blepharophimosis?)

Ko te tino take o tēnei 'Blepharophimosis Syndrome' he rerekētanga , he whakarerekētanga rānei i roto i tētahi ira e kiia nei ko 'FOXL2'. Ka tukuna tēnei mā roto i ngā ira i roto i te tikanga autosomal dominant .

He whakarāpopototanga noa iho, ahakoa kotahi anake te mātua kei a ia tēnei ira kua whakarerekētia (kua whakarerekētia), ka taea tonu e te tamaiti te tuku iho i tēnei ira.Heoi, ka taea e ētahi tāngata te pāngia e te mate mō te wā tuatahi, ahakoa kāore i riro mai i ō rātou mātua. I roto i ēnei āhuatanga, e kī ana ngā tākuta he whakarerekētanga ira "hou", arā, kāore i riro mai i tētahi mātua kua pāngia.

Ētahi atu raruraru ka puta mai i tēnei (He aha ngā raruraru o te mate blepharophimosis?)

Ka pāngia tō tirohanga e te Blepharophimosis. He nui ake tō tūponotanga ki te whakawhanake i ngā hapa tirohanga , ka ngaro ai te tirohanga i tawhiti, i te tata rānei.

Ina koa, ko ngā pēpi me ngā tamariki nohinohi e pāngia ana e te ptosis kino (he āhuatanga e kiia nei ko te kanohi mangere) ka pāngia e te āhuatanga e kiia nei ko te amblyopia . Nā te mea ka āraihia e ngā kamo ō rātou tirohanga, ka kore ai e whiwhi te roro i ngā tohu mai i taua kanohi. Ki te kore tēnei e rongoā wawetia, ka taea e te tirohanga o taua kanohi te pakaru tonu.

Me pēhea te tautuhi i tēnei? (Me pēhea te tautuhi i te mate blepharophimosis?)

Tērā pea ka whakapae tō tākuta kei a koe te Blepharophimosis Syndrome i muri i te kitenga i ngā tohu haumanu matua e whā i kōrerotia i mua ake nei, me te whakahaere i tētahi whakamātautau kanohi. Tērā pea ka whakahaerehia e tētahi tohunga tiaki kanohi ētahi, e te katoa rānei o ēnei whakamātautau:

• Whakamātautau tirohanga matatau: Ko te tono i a koe kia pānui i ngā reta i runga i te tūtohi. Ka taea e tēnei whakamātautau te āwhina i tō tākuta ki te whakatau mēnā he hapa tirohanga tōu, pērā i te tirohanga tata, te tirohanga tawhiti rānei.
• Ngā whakamātautau mō te kanohi mangere (Amblyopia) me te strabismus .
• Ngā whakamātautau toto mō ngā taumata homoni whakaputa uri (ina koa mēnā e whakapaetia ana he momo I).
• Ngā whakamātautau ira : Mā tēnei ka taea te whakaū mēnā he whakarerekētanga ira kei roto i te ira `FOXL2`.

He aha ngā maimoatanga? (Me pēhea te rongoā i te mate blepharophimosis?)

Ko te mate Blepharophimosis ka rongoatia mā te pokanga i te tamarikitanga . I waenganui i te 3 me te 5 tau te pakeke, ka mahia te pokanga hei whakatika i ngā āhuatanga e kiia nei ko te epicanthus inversus (te takai o te kiri o roto o te kamo) me te telecanthus (ngā kanohi e tawhiti ana). Kātahi, tata ki te tau i muri mai, ka mahi te taote pokanga i tētahi atu pokanga hei whakatika i te kamo e takoto ana (ptosis). I ētahi wā ka taea te mahi i ēnei pokanga katoa i te wā kotahi, engari he iti ake te onge o tēnei.

Ehara i te mea hei whakapai ake i te āhua o ngā kanohi anake te mahi o ēnei pokanga, engari hei āwhina hoki i te whanaketanga o te tirohanga a te tamaiti. Nā te mea ki te katia ngā kamo, e kore e whanake tika te tirohanga.

Mena kei a koe te momo BPES I, arā, ko te Primary Ovarian Insufficiency, ka tūtohu pea tō tākuta i te rongoā whakakapinga homoni , inā koa ngā tāpiringa estrogen. Heoi, he mea nui kia mahara kāore ēnei maimoatanga e whakatau i te kore tamariki . Me kōrero koe ki tētahi tohunga hauora uri.

He ara hei ārai i tēnei mea? (Me pēhea taku whakaiti i te mōrearea o te mate blepharophimosis?)

Kāore he huarahi motuhake hei ārai i te Mate Blepharophimosis, he mate ira tēnei. Heoi, ki te pāngia tētahi o tō whānau e te mate, he mea pai kia whakaarohia te tohutohu ira i mua i te whānautanga o tētahi tamaiti. Mā tēnei, ka taea e koe te ako atu mō tēnei mate, me te kōrero mō te mōrearea o te tuku iho i tēnei mate ki tāu tamaiti.

He aha ngā mea ka taea e au te tumanako mēnā kei a au te mate blepharophimosis?

Mena kei a koe te Blepharophimosis Syndrome, me tirotirohia ō kanohi i ia wā . Ka āwhina tēnei ki te tirotiro mēnā kei te ora tō tirohanga, me te mea he raruraru anō kei a koe.

Mena kei a koe te momo I, me kōrero koe ki te tākuta endocrinologist, ki te tohunga hauora uri rānei mō ngā take homoni me te momonatanga.

Ka taea te rongoā i te Mate Blepharophimosis, engari kāore e taea te whakaora. Ara, ahakoa ka taea e te pokanga te whakaora i te āhua me te mahi a ngā kanohi ki tētahi taumata, kāore e taea te whakarerekē i te pūtake ira.

He aha ngā pātai me pātai atu e au ki taku kaiwhakarato hauora?

He mea pai kia pātai atu koe ki tō tākuta i ēnei pātai:

• Kia hia ngā wā me tirotiro ōku kanohi?
• E taunaki ana koe i te tohutohu ira?
• He aha ngā whakaaro ka taea e koe te tuku hei whakatau i ngā raruraru momona?
• I raro i ngā āhuatanga hea me haere koe ki te rūma whawhati tata nā tēnei āhuatanga?

He aha te rerekētanga i waenga i te mate hauātanga hinengaro Blepharophimosis me tēnei?

He āhua pōhēhē anō hoki tēnei, nō reira he pai ki te whakamārama. Ka taea hoki e te hunga whai mate e kiia nei ko ngā 'Blepharophimosis intellectual disability syndromes' te kite i ngā kamo e takoto kau ana, me ngā whakatuwheratanga kanohi iti iho i te mea noa. Heoi, kāore e kitea e rātou te 'telecanthus' (ngā kanohi e wehea ana) te 'epicanthus inversus' rānei (ngā kopa kiri o roto).

Ko te mea nui, he puhoi ake te whanaketanga hinengaro o te hunga whai 'Blepharophimosis intellectual disability syndromes'.Ko ētahi tauira o tēnei ko ngā āhuatanga e kiia nei ko te `Ohdo syndrome` me te `Say-Barber-Biesecker-Young-Simpson syndrome`. E ai ki ngā whakatau tata a ngā kaipūtaiao he iti iho i te 1,000 ngā tāngata i te Hononga o Amerika e pāngia ana e ēnei mate hauātanga hinengaro.

Heoi, ko te hunga e pāngia ana e te `Blepharophimosis Syndrome (BPES)` e kōrerohia nei, kāore he hauātanga hinengaro. Koinei te rerekētanga matua.

He mate onge te Blepharophimosis Syndrome, arā, te BPES, e kitea ana i te whānautanga. Ka taea e koe me tō rōpū hauora te whakahaere pai i tēnei mate. Ko te pokanga hei whakatika i ngā raruraru o te kamo he wāhanga o te mahere maimoatanga.

Karere Tangohia ki te Kāinga

Āe, nā, mai i ngā mea kua kōrerohia e tātou, ko te tumanako kei a koe he whakaaro pai mō te 'Blepharophimosis Syndrome'. Kia maumahara:

• He mate ira tēnei, ko ngā kamo te nuinga e pā ana.
• Ko ngā tohu matua ko te iti o ngā puare o ngā kanohi, te hekenga o ngā kamo, ngā kanohi kua tawhiti te tū, me te kopa kiri i roto.
• E rua ngā momo (`Momo I` me `Momo II`) . I roto i te `Momo I`, ka pāngia hoki ngā ovaries.
• Kāore tēnei e pāngia e te hauātanga hinengaro.
• Ka taea e te pokanga te whakapai ake i te āhua me te mahi a ngā kanohi.
• He mea nui ngā whakamātautau kanohi auau , me te rongoā homoni mēnā e tika ana.

He mea noa te mataku me te manukanuka ina kitea e koe tēnei mate kei tō tamaiti. Engari kia maumahara, ehara i te mea ko koe anake. Nā te āwhina a ngā tākuta me te maimoatanga tika, he tokomaha kua taea te whakahaere i tēnei mate me te noho i te oranga noa. Nō reira, kia kaha, me te rapu i ngā tohutohu hauora e tika ana.

` Blepharophimosis, BPES, Kamomata, Ngā Mate Ira, Ptosis, Epicanthus Inversus, Hauora o te Kanohi