Chii chinonzi treacher collins syndrome, zvinokonzera, zviratidzo uye kurapwa

Zvemukati

• Zvinokonzera Treacher Collins syndrome
• Zviratidzo zvinogona kuitika
• Kurapwa kunoitwa sei

Treacher Collins syndrome, inonziwo mandibulofacial dysostosis, chirwere chisingawanzoonekwi chinowanikwa nekukanganisika mumusoro uye kumeso, zvichisiya munhu ane maziso akatsvuka uye shaya yakadzvanywa nekuda kwekusakwana kwedehenya, izvo zvinogona kuitika mune varume sekuvakadzi.

Nekuda kwekusagadzikana kwemapfupa, vanhu vane chirwere ichi vanogona kunetseka kunzwa, kufema uye kudya, zvisinei, Treacher Collins syndrome haiwedzere njodzi yekufa uye haina kukanganisa iyo yepakati tsinga system, ichibvumira kukura kuti kuitike zvakajairika.

Zvinokonzera Treacher Collins syndrome

Ichi chirwere chinonyanya kukonzerwa neshanduko muTCOF1, POLR1C kana POLR1D geni iri pane chromosome 5, iyo inovhara puroteni ine mabasa akakosha mukuchengetedza maseru akatorwa kubva kune iyo neural crest, ayo ari maseru anozoita mapfupa enzeve, kumeso uye zvakare nzeve mukati memavhiki ekutanga ekukura kwemwana mudumbu.

Treacher Collins syndrome ndeye autosomal yakakura geni kusagadzikana, saka mukana wekutapukira chirwere i50% kana mumwe mubereki aine dambudziko iri.

Izvo zvakakosha kuti chiremba aite musiyano wekuongororwa kwezvimwe zvirwere zvakaita seGoldharhar's syndrome, Nager's acrofacial dysostosis uye Millers's syndrome, sezvavanopa zviratidzo zvakafanana nezviratidzo.

Zviratidzo zvinogona kuitika

Zviratidzo zveTreacher Collins syndrome zvinosanganisira:

• Droopy maziso, yakamurwa muromo kana padenga remuromo;
• Nzeve diki kwazvo kana kusavapo;
• Kushaya eyelashes;
• Kufambira mberi kwekunzwa kurasikirwa;
• Kusavapo kwemamwe mabhonzo echiso, akadai sematama uye shaya;
• Kuoma mukutsenga;
• Matambudziko ekufema.

Nekuda kwekuremara kuri pachena kunokonzerwa nechirwere ichi, zviratidzo zvepfungwa zvinogona kuoneka, sekushushikana uye kusagadzikana, izvo zvinowoneka zvakasiyana uye zvinogona kugadziriswa ne psychotherapy.

Kurapwa kunoitwa sei

Kurapa kunofanirwa kuitwa zvinoenderana nezviratidzo uye nezvinodiwa zvemunhu wega wega, uye kunyangwe pasina mushonga wechirwere, kuvhiya kunogona kuitwa kuitira kugadzirisa mapfupa echiso, kuvandudza aesthetics uye mashandiro enhengo uye epfungwa .

Uye zvakare, kurapwa kwechirwere ichi zvakare kunosanganisira kuvandudza zvinokwanisika kufema matambudziko uye matambudziko ekudyisa anoitika nekuda kwekuremara kwechiso uye kutadziswa kweiyo hypopharynx nerurimi.

Nekudaro, zvinogona zvakare kuve zvakakosha kuita tracheostomy, kuitira kuti uchengetedze nzira yakakwana yemhepo, kana gastrostomy, iyo ichavimbisa yakanaka caloric yekudyiwa.

Mune zviitiko zvekurasikirwa kwekunzwa, kuongororwa kwakakosha kwazvo, kuitira kuti igadziriswe nekushandiswa kweprostheses kana kuvhiyiwa, semuenzaniso.

Chikamu chekurapa kwekutaura chinogona zvakare kuratidzwa kunatsiridza kutaurirana kwemwana pamwe nekubatsira mukumedza uye kutsenga.