Treacher-Collins chirwere: Zviratidzo, Zvinokonzera neMarapirwo

Treacher-Collins chirwere chinobata kukura pfupa uye mune dzimwe nzvimbo dzomuviri chiso. Zviratidzo uye zviratidzo ichi kunogona zvakasiyana-siyana, kubvira zvinenge imperceptible kutadza. Vazhinji vakaurayiwa vane underdeveloped mapfupa chiso, zvikurukuru, cheekbones, uye chidukuduku rushaya uye chirebvu (mu vacheche). Vamwe vanhu vane chirwere Treacher-Collins kuberekwa buri muromo, unonzi "mumukaha mukanwa". In chakakomba pacho underdevelopment mapfupa chiso anogona kukutadzisa njodzi Airways, zvirwere inogona upenyu pangozi.

Kazhinji vanhu vane ichi chirwere ziso vari kurerekera pasi, zvisingawanzoitiki eyelashes, pane kuremara repasi anopenya, inonzi coloboma. Izvi zvinokonzera mamwe zvinetso ophthalmic kuti zvingaita kuti zvaakaratidzwa kurasikirwa. Uyezve, pangava diki kana outsinye shaped nzeve kana dzavo vasipo. Kunzwa kurasikirwa kunoitika munenge hafu Muzviitiko. It zvinobva urema mu mapfupa nhatu duku pakati nzeve, izvo zvinoparadzira inzwi kana underdeveloped nzeve Canal. Hupo chirwere Treacher Collins haadi kuchinja njere: ave mutemo, zvakajairika.

Kunotouraya mu majini anokonzera Treacher-Collins chirwere?

The inonyanya chikonzero: kunotouraya mu majini TCOF1, POLR1C kana POLR1D. Gene mutation TCOF1 - mhaka 81-93% vose nyaya. POLR1C uye POLR1D - nemamwe 2% nyaya. In vanhu pasina chaicho mutation rimwe Gene chikonzero chirwere harizivikanwi.
Majini TCOF1, POLR1C, uye POLR1D basa rinokosha pakutanga kukura mapfupa uye mune dzimwe nzvimbo dzomuviri chiso. Ivo vanobatanidzwa mune kugadzirwa mamorekuru anonzi ribosomal RNA (rRNA), kemikari sekuru DNA nehanzvadzi. Ribosomal RNA kunobatsira kuunganidza namatombo mapuroteni (amino acids) ari mapuroteni itsva, izvo zvinodiwa kwomuzvarirwo kushanda, uye masero kurarama. Kunotouraya majini TCOF1, POLR1C, kana POLR1D akaputswa kugadzirwa rRNA. Vaongorori vanodavira kuti kuderedza rRNA kungaita kwataisvika zvimwe masero zvinobatanidzwa kukura mapfupa chiso uye munyama. Zvemamiriro Sero rufu kungaita kuti zvimwe matambudziko kukura zviso zvevanhu Treacher Collins syndrome.

Sezvo nhaka chirwere Treacher-Collins?

Kana chirwere kunoitika pamusana Gene kunotouraya kana TCOF1 POLR1D, zvinofungidzirwa kuti zviri - ive autosomal zvakazara nyonganyonga. About 60% nyaya zvinokonzerwa kunotouraya vatsva majini uye rinowanikwa mune vanhu vasina nhoroondo nechisimba. Mune zvimwe zviitiko, kuti chirwere iri nhaka kuburikidza mutated Gene kubva kuvabereki vavo.

Kana chirwere kunokonzerwa kunotouraya ari Gene POLR1C, zvinofungidzirwa kuti zviri - ive autosomal recessive mufananidzo nhaka. Vabereki munhu ane autosomal recessive nyonganyonga vane imwe kopi mutated Gene, asi kazhinji havaiti zviratidzo uye zviratidzo zviri chirwere.

urwere kurapwa

Treatment kunobva kwokuomerwa mamiriro, asi zvingasanganisira:

• Genetic Counseling - kumunhu kana mhuri, zvichienderana nokuti chirwere chacho chichigarwa nhaka kana kwete;
• kunzwa zvinoyamura - panyaya conductive kusanzwa;
• mazino kurapwa, kusanganisira orthodontic zvainanga kururamisa malocclusion;
• kutaura jekiseni makirasi kunatsiridza hwokukurukura. Speech pathologists zvakare kushanda nevanhu vane dambudziko pakuparadza zvokudya kana zvokunwa;
• Nzira nzira ichabatsira vanatsiridze chitarisiko uye kunaka kwoupenyu.