He aha ka treacher collins Syndrome, nā kumu, nā ʻōuli a me nā lāʻau

Anter

• Nā kumu o Treacher Collins Syndrome
• Nā hōʻailona kūpono
• Pehea e hana ai i ka lāʻau

ʻO Treacher Collins Syndrome, i kapa ʻia ʻo mandibulofacial disostosis, kahi maʻi maʻi ʻōiwi ʻike ʻole ʻia e ka malformations ma ke poʻo a me ka maka, e waiho ana i ke kanaka me nā maka droopy a me ka iwi ʻāpana ma muli o ka ulu ʻole o ka iwi poʻo, i hiki ke hana ʻia i nā kāne e like me nā wahine.

Ma muli o ka maikaʻi ʻole o ka iwi iwi, paʻakikī paha ka poʻe me kēia maʻi i ka hoʻolohe ʻana, ka hanu ʻana a me ka ʻai ʻana, akā naʻe, ʻaʻole hoʻonui ka Treacher Collins Syndrome i ka hopena o ka make a ʻaʻole pili i ka ʻōnaehana waena, e ʻae ana i ka hoʻomohala ʻana ma kahi maʻamau.

Nā kumu o Treacher Collins Syndrome

Hoʻokumu nui ʻia kēia maʻi e nā hoʻololi ʻana i ka moʻokūʻauhau TCOF1, POLR1C a i ʻole POLR1D ma luna o ka chromosome 5, kahi e hoʻopili ai i kahi protein me nā hana nui i ka mālama ʻana i nā hunaola i loaʻa mai ka piko neural, ʻo ia nā pūnaewele e hana i nā iwi o ka pepeiao, ka maka. a ʻo nā pepeiao hoʻi i nā pule mua o ka ulu ʻana o ka embryo.

ʻO Treacher Collins Syndrome kahi maʻi autosomal koʻikoʻi genetical, no laila ʻo ka likelike o ka loaʻa ʻana o ka maʻi he 50% inā loaʻa kēia pilikia i hoʻokahi makua.

He mea nui ia no ke kauka e hana i ka ʻike ʻokoʻa o nā maʻi ʻē aʻe e like me ka maʻi ʻo Goldenhar's, Nager's acrofacial dysostosis a me Millers 'Syndrome, ke hōʻike nei lākou i nā hōʻailona like a me nā ʻōuli.

Nā hōʻailona kūpono

Nā hōʻailona o ka Treacher Collins maʻi maʻi:

• Droopy eyes, cleft lehelehe a i ʻole kaupaku o ka waha;
• Liʻiliʻi loa a loaʻa ʻole paha nā pepeiao;
• Ka loaʻa ʻole o nā maka maka;
• Nalowale hoʻolohe pepeiao holomua;
• Ka loaʻa ʻole o kekahi mau iwi maka, e like me nā papalina a me nā iwi;
• Ka paʻakikī i ka nau ʻana;
• Nā pilikia hanu.

Ma muli o nā deformations maopopo i hoʻokumu ʻia e ka maʻi, hiki ke ʻike ʻia nā hōʻailona psychological, e like me ke kaumaha a me ka ukiuki, i ʻike ʻia a hoʻololi ʻia me psychotherapy.

Pehea e hana ai i ka lāʻau

Pono e hana i ka mālama ʻana e like me nā ʻōuli a me nā pono kikoʻī o kēlā me kēia kanaka, a ʻoiai ʻaʻohe mea e ola ai ka maʻi, hiki ke hana i nā ʻoki ʻana i mea e hoʻoponopono hou ai i nā iwi maka, ka hoʻomaikaʻi ʻana i nā estetika a me nā hana o nā ʻokana a me nā manaʻo. .

Eia hou, ʻo ka mālama ʻana i kēia maʻi pū kekahi me ka hoʻomaikaʻi ʻana i nā pilikia hanu hiki a me nā pilikia hānai e hana ʻia ma muli o nā helehelena a me ka ālai ʻia o ka hypopharynx e ke alelo.

No laila, he mea pono paha e hana i kahi tracheostomy, i mea e mālama ai i kahi ala ea kūpono, a i ʻole kahi gastrostomy, e hōʻoiaʻiʻo ai i ka lawe ʻana o ka caloric maikaʻi.

I nā hihia o ka lohe pepeiao, he mea nui ka hōʻailona, ​​i hiki ai ke hoʻoponopono me ka hoʻohana ʻana o nā prostheses a i ʻole ke ʻoki ʻana, no ka laʻana.

Hiki ke hōʻike ʻia i ka hālāwai hoʻōla ʻōlelo e hoʻomaikaʻi ai i ke kamaʻilio a ke keiki a me ke kōkua i ke kaʻina o ka ale ʻana a me ka nau ʻana.