Treacher-Collins maʻi pale: Symptoms, 'ehaʻeha ka a me ka iapaau ana

Treacher-maʻi pale Collins e loli i ke ana o ka iwi a me ka 'ē aʻe nā'aʻaʻa o ka maka. Na hoailona a me symptoms o keia kāna hana hiki oko nunui, mai aneane imperceptible i ka loa. Ka hapa nui o nā mōhai i underdeveloped lehalehu t iwi, ma ka nui, cheekbones, a he uuku loa iwi a me ka chin (i loko o na kamalii uuku). Kekahi kanaka me ka maʻi pale Treacher-Collins hānau me ka puka i loko o ka waha, a ua kapaia "mauae kīleo". I loa hoopii, i ka underdevelopment o na iwi lehalehu e kali i ka loli ana o Hawaiian Airlines, ma o na la palena papaha ke ola-hooweliweli ana ia maʻi.

Pinepine kanaka me keia maka maʻi e hāliu mai i ko lalo, pohihihi keia lihilihi, aia no he hewa o ka lalo lihilihi, kapa coloboma. Kēia ke kumu hou ophthalmic kāna hana i hiki ke alakai i ka hihio me keia poho. Eia hou, ma laila e e uuku paha unusually hoʻokino pepeiao a me kā lākou e kaawale aku. Lohe poho ia lŘlŘ ma e pili ana i ka hapalua o ka hihia. Ua hualoaʻa mai mā i loko o ka iwi ekolu uuku o ka waena pepeiao, i ke hoʻouna i kani ole underdeveloped pepeiao Canal. Ke alo aku o ka maʻi pale Treacher Collins aʻole e pili mai akamai: e like me ka rula, ia mea maʻamau.

Mutations i loko o nā'ōewe a i Treacher-Collins maʻi pale?

Ka loa, he pono ole ke kumu. Mutations i loko o nā'ōewe TCOF1, POLR1C a POLR1D. 'ōewe mutation TCOF1 - i ke kumu o 81-93% o na hihia a pau. POLR1C a POLR1D - he keu 2% o ka hihia. I kanaka me he mau 'mutation o kekahi'ōewe kumu o ka maʻi mea IKE OLE IA.
pāʻani nā'ōewe TCOF1, POLR1C, a me POLR1D nui i kūlana ma ke kakahiaka 'ana o ka iwi a me nā nā'aʻaʻa o ka maka. Ka mea i komo i loko o ka? Iecaianoaaiiie o nā lātoma kapaia ribosomal RNA (rRNA), Nine Inch hoahānau DNA kaikuahine. Ribosomal RNA kōkua e ohi i ālai 'ana o nā polokina ('amino nāʻakika) i loko o ka hou nā polokina, i mea e pono ai no ka maʻamau functioning, a me ke kelepona hele ola. Mutations o nā'ōewe TCOF1, POLR1C, a oki POLR1D? Iecaianoaaiiuo rRNA, Noiʻi manaʻoʻiʻo e hoemi i ka huina o rRNA ke alakai i ka pakiko-loa ia'na o kekahi keena komo i loko o ka ulu ana o ka lehalehu t iwi a me nā'aʻaʻa. 'āno'ē aeea make e alakai i kekahi mau pilikia a me ka hooulu ana o na maka o kanaka a me Treacher Collins maʻi pale.

Like ili maʻi pale Treacher-Collins?

Inā ka maʻi ia lŘlŘ no ka'ōewe mutations a TCOF1 POLR1D, ka mea ua manaoio ia ia mea - he autosomal Hoʻohaku kāna hana. About 60% o nā hihia i kauoha ae la ia e hou mutations ma ka'ōewe, a ia lŘlŘ i loko o kanaka me ole mōʻaukala o ke kāʻili wale. Ma nā hihia, ka maʻi pale ua ili ma ka mutated'ōewe mai ko lākou mau mākua.

A i ka maʻi ua kena ae la ia e mutations ma ka'ōewe POLR1C, ka mea, ua manaoio aku no lakou ia ia mea - he autosomal recessive kumu o ka'āina hoʻoili. Nā mākua o ka kanaka me ka autosomal recessive kāna hana i kekahi kope o ka mutated'ōewe, akā, ka mea, IeAUPIIe, IAa IO mai hōʻike i nā hōʻailona a me nā symptoms o ka maʻi.

maʻi pale lapaʻau

Lapaau hilinaʻi nui ma luna o ka oolea o keʻano, akā, i pololei.

• Aaiaoe aʻoaʻo 'ia - no kekahi kanaka paha ohana, ke kaumaha ma muli paha o ka maʻi mea hereditary paha,ʻaʻole;
• lohe kōkua iā ia, - i loko o ka hihia o ka lawelawe hālāwai hoʻolohe manaʻo lilo;
• kahua niho lapaʻau, a me orthodontic nona? ee malocclusion;
• olelo Inc papa, e hoʻoikaika 'ana i ka mākau hoʻokaʻaʻike mākau. Olelo pathologists no hoi e holopono ana me kanaka, ka poe i hoopilikia mai ai i moni 'ia ai' ole e inu ai;
• ʻoki lāʻau lapaʻau 'ana i kūpono i e kōkua hoʻoikaika' ana i ke ano a me ka pono o ke ola.