Treacher-Collins syndrome: Zizindikiro, Zoyambitsa ndi Chithandizo

Treacher-Collins matenda amakhudza kukula kwa fupa ndi zimakhala ena a nkhope. Zizindikiro za matendawa akhoza zimasiyana kwambiri, kuchokera pafupifupi imperceptible kuti kwambiri. Ambiri mwa anthu mafupa underdeveloped nkhope, makamaka cheekbones, ndi masaya ochepa ndi chibwano (makanda). Anthu ena ndi matenda Treacher-Collins anabadwa ndi bowo pa kamwa, wotchedwa "abadwe". Zikavuta, ndi underdevelopment mafupa nkhope lingachepetse Airways akhudzidwa, kuchititsa matenda zoika moyo pachiswe.

Nthawi zambiri anthu ndi matenda diso amakonda kunsi, nsidze yosowa pali chilema cha zikope m'munsi, wotchedwa coloboma. Zimenezi zimachititsa matenda zina ophthalmic zimene zingachititse kuti imfa masomphenya. Komanso, pangakhale makutu yaing'ono kapena modabwitsa mphako kapena kusapezeka kwawo. Kumva imfa amapezeka pafupifupi theka la milandu. Zimachititsa ku zopindika mafupa atatu ka khutu pakati, zomwe zimafalitsa phokoso kapena underdeveloped khutu ngalande. Kukhalapo kwa syndrome Treacher Collins sikumangotikhudza nzeru: monga ulamuliro, sizachilendo.

Masinthidwe majini amene amayambitsa matenda Treacher-Collins?

Chifukwa ambiri: masinthidwe majini TCOF1, POLR1C kapena POLR1D. Gene kusintha TCOF1 - chifukwa cha 81-93% milandu onse. POLR1C ndi POLR1D - zapadera 2% ya milandu. Mu anthu opanda kusintha enieni chifukwa jini wina wa matenda ndi losadziwika.
Chibadwa TCOF1, POLR1C, ndi POLR1D mbali yofunika kwambiri mu kukula oyambirira mafupa ndi zimakhala ena a nkhope. Iwo nawo yopanga maselo otchedwa ribosomal RNA (rRNA), mankhwala msuweni DNA alongo. Ribosomal RNA amathandiza kusonkhanitsa midadada ya mapuloteni (amino zidulo) mu mapuloteni watsopano, amene ali koyenera kuti kugwira ntchito bwinobwino, ndi kupulumuka selo. Masinthidwe a majini TCOF1, POLR1C, kapena kupanga POLR1D odulidwa rRNA. Ochita kafukufuku amakhulupirira kuti kuchepetsa kuchuluka kwa rRNA kungachititse kuti okha maselo yeniyeni nawo chitukuko cha mafupa nkhope ndi zimakhala. Nthenda selo imfa zingayambitse mavuto ena ndi chitukuko cha nkhope za anthu amene ali ndi matenda Treacher Collins.

Monga tinatengera syndrome Treacher-Collins?

Ngati matenda kumachitika chifukwa cha masinthidwe jini kapena TCOF1 POLR1D, akukhulupirira kuti izo ndi - ndi autosomal lalikulu chisokonezo. Pafupifupi 60% a milandu chifukwa cha masinthidwe atsopano mu jini ndi akupezeka anthu ndi mbiriyakale chiwawa. Nthawi zina matendawa ndi tinatengera kudzera losokonekera mutated kwa makolo awo.

Pamene matenda amayamba ndi masinthidwe POLR1C jini, akukhulupirira kuti izo ndi - ndi autosomal recessive chitsanzo cha cholowa. Makolo a munthu ndi autosomal recessive matenda nalo limodzi la jini mutated, koma iwo samasankha zizindikiro ndi zizindikiro za matenda.

syndrome chithandizo

Chithandizo kumatengera zovuta za moyo, koma ingakhale monga iyi:

• Majini uphungu - kwa munthu kapena banja, malingana ngati matenda ndi cholowa kapena ayi;
• zothandizira kumva - zinachitikira conductive kumva imfa;
• chithandizo mano, kuphatikizapo orthodontic umalimbana kukonza malocclusion;
• makalasi lolankhula kusintha maluso. Kulankhula pathologists komanso kugwira ntchito ndi anthu amene ali ndi vuto Pomeza chakudya kapena chakumwa;
• Opaleshoni njira zimene zingakuthandizeni kukonza maonekedwe ndi khalidwe la moyo.