Treacher-Collins syndrome: Iimpawu, Unobangela Treatment

Treacher-Collins syndrome kuchaphazela uphuhliso ngethambo kunye nezinye nezihlunu ebusweni. Iimpawu kunye iimpawu zesi sifo kuyohluka kakhulu, ukususela phantse imperceptible esiqatha. Uninzi lwamaxhoba amathambo ngokwaneleyo ebusweni, ingakumbi, cheekbones, kunye nomhlathi encinane kakhulu nasesilevini (kwiintsana). Abanye abantu syndrome Treacher-Collins ozalwa umngxuma emlonyeni, leyo ibizwa ngokuba "inkalakahla lips". Kwiimeko kakhulu, lokungaphuhliswa amathambo yobuso linokunciphisa yomoya achaphazelekayo, okubangela izifo ezinokuba ezisongela ubomi.

Ngokuqhelekileyo abantu abane kwesi sifo iliso ekusebenziseni kwehlisa, amashiya ezinqabileyo, kukho isiphene iinkophe asezantsi, ebizwa coloboma. Oku kubangela ezinye iingxaki lwamehlo enokukhokelela ilahleko mbono. Ukongeza, kusenokubakho iindlebe amancinane okanye ezime ngendlela engaqhelekanga okanye ukungabikho kwabo. Ukuva ilahleko kwenzeka xa malunga nesiqingatha amatyala. Lonto iziphene amathambo ezintathu encinane zendlebe, ezithwala okanye isandi ngokwaneleyo indlebe lomsele. Ubukho onaso Treacher Collins awuchaphazeli ingqondo: njengoko umthetho, yinto eqhelekileyo.

Kwezakhi ezilawula imfuza ezibangela Treacher-Collins syndrome?

Unobangela uqhelekileyo: zofuzo ezilawula imfuza TCOF1, POLR1C okanye POLR1D. Gene guquko TCOF1 - unobangela 81-93% yazo zonke iimeko. POLR1C and POLR1D - an extra-2% amatyala. Xa abantu ngaphandle kuguquka ethile omnye gene unobangela sifo akaziwa.
Yemfuza TCOF1, POLR1C, kunye POLR1D badlala indima ebalulekileyo kuphuhliso yokuqala amathambo kunye nezinye nezihlunu ebusweni. Bona inxaxheba kwimveliso ezibizwa RNA ribosomal (rRNA), iikhemikhali umzala oodade DNA. Ribosomal RNA inceda ukuqokelela ibhloko iiprotheni (acid) kwi iiproteni ezintsha, eziyimfuneko ukuze eqhelekileyo yokusebenza, kunye iseli ukusinda. Kwezakhi zofuzo TCOF1, POLR1C, okanye imveliso POLR1D cut rRNA. Abaphandi bakholelwa ukuba ukwehlisa imali rRNA kunokukhokelela self-ukutshatyalaliswa iiseli ezithile inxaxheba kuphuhliso amathambo zobuso kunye namalaphu. Ezingahambi ukufa kweeseli kungakhokhelela kwiingxaki ezithile kunye nophuhliso ebusweni abantu abane Treacher Collins syndrome.

Njengoko ilifa syndrome Treacher-Collins?

Ukuba isifo kwenzeka ngenxa yemfuza gene okanye TCOF1 POLR1D, kukholelwa ukuba - i autosomal lubalaseleyo disorder. Malunga ne 60% amatyala zibangelwa ukuguquka ezintsha kwi sofuzo kwaye kwenzeka kubantu akukho imbali lugonyamelo. Kwezinye iimeko, syndrome esizalwa ngokusebenzisa isakhi mutated evela kubazali babo.

Xa esi sifo sibangelwa ukuguquka kweli POLR1C zofuzo, kukholelwa ukuba - i autosomal ipateni sofuzo zelifa. Abazali umntu kunye autosomal disorder sofuzo enye ikopi sofuzo mutated, kodwa ngokuqhelekileyo zingabonakaliyo imiqondiso iimpawu zesi sifo.

unyango syndrome

Unyango kuxhomekeke ubungqongqo kwisimo, kodwa ziquka:

• ngeengcebiso ngezemvelo - ngumntu ngamnye okanye usapho, kuxhomekeke ukuba esi sifo ilifa okanye hayi;
• kuzwa - kwimeko ubuthulu conductive;
• unyango lwamazinyo, kuquka amazinyo ejolise ukulungisa malocclusion;
• iiklasi unyango kwintetho ukuphucula izakhono zonxibelelwano. pathologists Speech kwakhona ukusebenza nabantu ingxaki yokuginya nokutya okanye eselwayo;
• iindlela zotyando eziya kunceda ekuphuculeni imbonakalo kunye nomgangatho wobomi.