Treacher-Collins syndrome: tohu, Take me te rongoā

pānga Treacher-Collins syndrome te whanaketanga o te wheua, me te tahi atu te kopa o te mata. Tohu me tohu o tenei mate e taea te rerekē tino, i tata äta ki kino. Te nuinga o nga patunga i wheua underdeveloped kanohi, i roto i ngā, cheekbones, me te kauae iti rawa me te kauwae (i roto i nga kohungahunga). Ētahi iwi ki te syndrome Treacher-Collins whanau ki te kohao i roto i te mangai, e kiia nei ko "mangai ngatata". I roto i ngā take kino, te underdevelopment o nga wheua kanohi kia whakawhāiti te Airways pāngia, meinga mate pea te ora-te whakawehi.

E mea pinepine te iwi ki tenei mate kanohi e tahuri whakararo, eyelashes onge, i reira te mea he koha o te kamo o raro, ka karanga coloboma. Tenei ai atu disorders ophthalmic e taea arahi ki mate kite. I tua atu, i reira kia kia taringa iti ranei rerekē āhua ranei ratou ngaro. Rongo mate puta i roto i pā ana ki te hawhe o te wā. hua te reira i i hē i roto i te wheua iti e toru o te taringa waenga, e tuku tangi underdeveloped ranei awa taringa. E kore e te aroaro o te syndrome Treacher Collins pā maramarama: rite te tikanga, ko reira noa.

Irakētanga i roto i ira e meinga Treacher-Collins syndrome?

Ko te take tino noa: irakētanga i roto i ira TCOF1, POLR1C POLR1D ranei. Gene irakētanga TCOF1 - te take o 81-93% o te wā katoa. POLR1C ko POLR1D - he anō 2% o te wā. I roto i te mau taata, kahore te irakētanga motuhake o tetahi take ira o te mate ko te unknown.
Ira TCOF1, POLR1C, a POLR1D whai wāhi nui i roto i te whanaketanga wawe o wheua, me te tahi atu te kopa o te mata. E whai wāhi ana ratou i roto i te hanga o ngā rāpoi ngota i huaina tuipūmua ribosomal (rRNA), whanaunga matū DNA tuahine. tauturu Ribosomal RNA ki te kohikohi poraka o pūmua (waikawa amino) i roto i te pūmua hou, e he tika mo te mahi noa, me te ora pūtau. Irakētanga o ira TCOF1, POLR1C, tapahia POLR1D ranei production rRNA. Kairangahau whakapono e whakaiti i te nui o rRNA taea arahi ki te whaiaro-whakangaromanga o ngā pūtau motuhake wāhi i roto i te whanaketanga o wheua kanohi me te kopa. Rerekē te mate pūtau kia arahi ki etahi raruraru ki te whanaketanga o te mata o te iwi ki Treacher Collins syndrome.

Ka rite ki syndrome riro Treacher-Collins?

Ki te puta te mate no te mea o irakētanga ira TCOF1 POLR1D ranei, kua whakapono ai e he reira - he mate ngoi autosomal. E meinga Mō 60% o ngā take e irakētanga hou i roto i te ira me te puta i roto i te iwi ki kahore hītori o te tutu. I roto i te tahi atu te wā, riro te syndrome te roto i te ira mutated i to ratou mau metua.

A, no te meinga te mate e irakētanga i roto i te POLR1C ira, kua whakapono ai e he reira - he tauira ngoikore autosomal o tupu. Nga mātua o te takitahi ki te mate ngoikore autosomal i tetahi kape o te ira mutated, engari ratou e kore te nuinga e whakaatu i nga tohu me tohu o te mate.

maimoatanga syndrome

Tei Treatment i runga i te pakeke o te huru, engari kia ngā:

• tohutohu iranga - mo te takitahi te utuafare ranei, i runga i ranei he tuku e kore ranei te mate rānei;
• rongo taonga - i roto i te take o te mate rongo conductive;
• maimoatanga niho, tae atu orthodontic hāngai ana ki te whakatikatika malocclusion;
• akomanga kupu therapy ki te whakapai ake i ngā pūkenga kōrero. mahi hoki Pathologists kupu ki te iwi e whai raruraru horomia kai ranei inu;
• tikanga hāparapara e ka tauturu i te whakapai ake i te ahua me te kounga o te ora.