Kodi treacher collins syndrome ndi chiyani, zomwe zimayambitsa, zizindikiro ndi chithandizo

Zamkati

• Zomwe zimayambitsa matenda a Treacher Collins
• Zizindikiro zotheka
• Momwe mankhwalawa amachitikira

Matenda a Treacher Collins, omwe amadziwikanso kuti mandibulofacial dysostosis, ndi matenda osowa omwe amapezeka pamutu ndi nkhope, kusiya munthuyo ali ndi maso ofooka komanso nsagwada chifukwa chokhala ndi chigaza chosakwanira, chomwe chitha kuchitika mwa amuna ndi akazi.

Chifukwa cha kusachita bwino kwa mafupa, anthu omwe ali ndi vutoli amatha kuvutika kumva, kupuma komanso kudya, komabe, matenda a Treacher Collins sawonjezera chiopsezo cha kufa ndipo samakhudza dongosolo lamanjenje, kulola kuti chitukuko chichitike bwino.

Zomwe zimayambitsa matenda a Treacher Collins

Matendawa amayamba chifukwa cha kusintha kwa jini la TCOF1, POLR1C kapena POLR1D lomwe lili pa chromosome 5, lomwe limayika puloteni yokhala ndi ntchito zofunikira pakusunga maselo ochokera ku neural crest, omwe ndi maselo omwe amapanga mafupa a khutu, nkhope komanso makutu m'masabata oyamba a kukula kwa mluza.

Matenda a Treacher Collins ndimatenda amtundu wa autosomal, motero mwayi wopeza matendawa ndi 50% ngati kholo limodzi lili ndi vutoli.

Ndikofunikira kuti adotolo azindikire kusiyanasiyana kwa matenda ena monga Goldenhar's syndrome, Nager's acrofacial dysostosis ndi Millers's syndrome, pomwe akupereka zizindikilo ndi zizindikilo zofananira.

Zizindikiro zotheka

Zizindikiro za matenda a Treacher Collins ndi awa:

• Maso osasunthika, milomo yolumikizana kapena denga pakamwa;
• Makutu ang'ono kwambiri kapena osakhalapo;
• Kukhalabe ndi nsidze;
• Kupita patsogolo kwakumva;
• Kupezeka kwa mafupa ena akumaso, monga masaya ndi nsagwada;
• Zovuta kutafuna;
• Mavuto opumira.

Chifukwa cha kufooka koonekeratu komwe kumayambitsa matendawa, zizindikilo zamaganizidwe zimatha kuwoneka, monga kukhumudwa ndi kukwiya, zomwe zimawoneka mosiyanasiyana ndipo zitha kuthetsedwa ndi psychotherapy.

Momwe mankhwalawa amachitikira

Chithandizo chiyenera kuchitidwa molingana ndi zisonyezo komanso zosowa za munthu aliyense, ndipo ngakhale kulibe kuchiza matendawa, maoparesi amatha kuchitidwa kuti akonzenso mafupa akumaso, kukonza kukongoletsa ndi magwiridwe antchito a ziwalo ndi mphamvu .

Kuphatikiza apo, chithandizo cha matendawa chimaphatikizaponso kuthana ndi zovuta kupuma komanso mavuto azakudya zomwe zimachitika chifukwa cha kufooka kwa nkhope ndi kutsekula kwa lilime.

Chifukwa chake, pangafunikirenso kuchita tracheostomy, kuti mukhale ndi njira yokwanira yopita pandege, kapena gastrostomy, yomwe ingakupatseni chakudya chabwino cha caloric.

Pakakhala vuto lakumva, matendawa ndiofunika kwambiri, kuti athe kuwongoleredwa pogwiritsa ntchito ma prostheses kapena opaleshoni, mwachitsanzo.

Gawo lothandizira pakulankhulanso lingawonetsedwe kuti lipangitse kulumikizana kwa mwana komanso kuthandizira kumeza ndi kutafuna.