Yini i-treacher collins syndrome, izimbangela, izimpawu nokwelashwa

-Delile

• Izimbangela ze-Treacher Collins syndrome
• Izimpawu ezingenzeka
• Yelashwa kanjani

I-Treacher Collins syndrome, ebizwa nangokuthi i-mandibulofacial dysostosis, iyisifo esingajwayelekile sezakhi zofuzo esibonakala ngokungahambi kahle ekhanda nasebusweni, sishiya umuntu enamehlo adindilizile nomhlathi osezingeni eliphansi ngenxa yokungakhuli kahle kogebhezi, okungenzeka kubo bobabili emadodeni njengabesifazane.

Ngenxa yokwakheka kwamathambo okungekuhle, abantu abanalesi sifo bangaba nzima ukuzwa, ukuphefumula nokudla, kepha-ke, iTreacher Collins syndrome ayinyusi ingozi yokufa futhi ayithinti uhlelo oluphakathi lwezinzwa, oluvumela intuthuko ukuthi yenzeke ngokujwayelekile.

Izimbangela ze-Treacher Collins syndrome

Lesi sifo sibangelwa ikakhulu ukuguquka kwesakhi sofuzo i-TCOF1, POLR1C noma i-POLR1D etholakala ku-chromosome 5, efaka iprotheni enemisebenzi ebalulekile ekugcineni amaseli atholakala ku-neural crest, okungamaseli azokwakha amathambo endlebe, ubuso kanye nezindlebe emasontweni okuqala okukhula kombungu.

ITreacher Collins syndrome iyi-autosomal dominant genetic disorder, ngakho-ke amathuba okuthola lesi sifo angama-50% uma umzali oyedwa enale nkinga.

Kubalulekile ukuthi udokotela enze ukuxilongwa okwehlukile kwezinye izifo ezinjenge-Goldenhar's syndrome, i-Nager's acrofacial dysostosis neMillers 'syndrome, njengoba beveza izimpawu nezimpawu ezifanayo.

Izimpawu ezingenzeka

Izimpawu ze-Treacher Collins syndrome zifaka:

• Amehlo adangele, udebe oluvulekile noma uphahla lomlomo;
• Izindlebe ezincane kakhulu noma ezingekho;
• Ukungabikho kwe-eyelashes;
• Ukulahleka kokuzwa okuqhubekayo;
• Ukungabikho kwamathambo obuso, njengama-cheekbones nemihlathi;
• Kunzima ukuhlafuna;
• Izinkinga zokuphefumula.

Ngenxa yokukhubazeka okusobala okubangelwa yilesi sifo, izimpawu zengqondo zingavela, njengokucindezeleka kanye nokucasuka, okuvela ngokuhlukile futhi kungaxazululwa ngokwelashwa kwengqondo.

Yelashwa kanjani

Ukwelashwa kufanele kwenziwe ngokuya ngezimpawu nezidingo ezithile zomuntu ngamunye, futhi yize lingekho ikhambi lalesi sifo, ukuhlinza kungenziwa ukuze kuhlelwe kabusha amathambo obuso, kuthuthukiswe ubuhle nokusebenza kwezitho kanye nezinzwa .

Ngaphezu kwalokho, ukwelashwa kwalesi sifo kubuye kube nokuthuthukisa izinkinga zokuphefumula nezinkinga zokondla ezenzeka ngenxa yokukhubazeka kobuso nokuvinjelwa kolimi yi-hypopharynx.

Ngakho-ke, kungadingeka futhi ukwenza i-tracheostomy, ukuze kugcinwe umoya owanele, noma i-gastrostomy, ezoqinisekisa ukutholwa okuhle kwekhalori.

Ezimweni zokulahlekelwa ukuzwa, ukuxilongwa kubaluleke kakhulu, ukuze kulungiswe ngokusetshenziswa kwamalungu okufakelwa noma ukuhlinzwa, isibonelo.

Iseshini yokwelapha inkulumo nayo ingakhonjiswa ukuthuthukisa ukuxhumana kwengane kanye nosizo enkambisweni yokugwinya nokuhlafuna.