Treacher-Collins syndrome: Izimpawu, Izimbangela Nezingozi Ukwelashwa

Treacher-Collins sifo sithinta ukuthuthukiswa ethanjeni nakwezinye izicubu ebusweni. Izimpawu nezinkomba lesi sifo kungaba nemikhuba yazo ihluke kakhulu, kusukela cishe imperceptible nzima. Abantu abaningi babe amathambo ampofu ebusweni, ikakhulukazi, cheekbones, futhi umhlathi encane kakhulu futhi kwesilevu (ezinsaneni). Abanye abantu sifo Treacher-Collins ozalwa imbobo umlomo, okuthiwa "ulwanga emfantwini". Ezimweni ezimbi kakhulu, le nokungathuthuki amathambo ebusweni ingase ilinganisele yomoya ethintekile, okubangela isifo engase esisongela ukuphila.

Ngokuvamile abantu nalesi sifo iso sithambekele phansi, eyelashes ezingavamile, kunesici amajwabu amehlo ephansi, ngokuthi coloboma. Lokhu kubangela iziyaluyalu ezengeziwe amehlo engaholela umbono ukulahlekelwa. Ngaphezu kwalokho, kungase kube izindlebe ezincane noma eliyindilinga ngokungavamile noma engekho. Ukuzwa ukulahleka kwenzeka cishe isigamu sezindela amacala. It umphumela yokulimala amathambo amathathu encane maphakathi nendlebe ezithwala umsindo noma ampofu indlebe umsele. Ukuba khona lesi sifo Treacher Collins akuphazamisi intelligence: njengoba umthetho, kungokwemvelo.

Ukuguqula izakhi zofuzo zofuzo ezibangela Treacher-Collins syndrome?

Imbangela ezivame kakhulu: ukuguquka kwezakhi zofuzo zofuzo TCOF1, POLR1C noma POLR1D. Gene kuguquka TCOF1 - imbangela 81-93% azo zonke izimo. POLR1C futhi POLR1D - an extra-2% amacala. Ngo ngabanye ngaphandle kuguquka ezithile eyodwa isakhi sofuzo imbangela isifo alwaziwa.
Zofuzo TCOF1, POLR1C, futhi POLR1D zidlala indima ebalulekile ekuthuthukiseni ekuseni lamathambo nezinye izicubu ebusweni. Ababandakanyeka kwamangqamuzana emvelo ngokuthi i-RNA ribosomal (rRNA), amakhemikhali umzala nodade DNA. Ribosomal RNA kusiza ukuqoqa amabhlogo amaprotheni (ama-amino acid) e namaprotheni entsha, okuyizinto ezidingekayo ukuze ukusebenza evamile, futhi iseli sokusinda. Ukuguqula izakhi zofuzo zofuzo TCOF1, POLR1C, noma ukukhiqizwa POLR1D cut rRNA. Abacwaningi bakholelwa ukuthi kuncishiswe inani rRNA kungaholela self-ukubhujiswa amaseli ethize ekusungulweni lamathambo ebusweni nezicubu. Okungavamile yokufa kwamangqamuzana engokwemvelo kungaholela ezinkingeni ezithile ukuthuthukiswa ubuso abantu Treacher Collins syndrome.

Njengoba ngofuzo syndrome Treacher-Collins?

Uma lesi sifo kwenzeka ngenxa zofuzo noma TCOF1 POLR1D, kunenkolelo ukuthi - i autosomal disorder evelele. Mayelana 60% amacala zibangelwa izakhi zofuzo okuqondiswa entsha e isakhi sofuzo futhi kwenzeka nabantu abangenawo umlando zobudlova. Kwezinye izimo, lesi sifo njengefa ngokusebenzisa isakhi soguquko lwegciwane singalawuleka kubazali babo.

Lapho sifo sibangelwa ukushintsha izakhi zofuzo okuqondiswa ku POLR1C isakhi sofuzo, kunenkolelo ukuthi - i autosomal iphethini esikhubazayo yefa. Abazali umuntu nomuntu autosomal disorder esikhubazayo babe ikhophi eyodwa isakhi sofuzo soguquko lwegciwane singalawuleka, kodwa ngokuvamile ungabonisi izibonakaliso izimpawu zesifo.

ukwelashwa syndrome

Ukwelashwa incike kobukhulu isimo, kodwa ingase ihlanganise:

• Ukwelulekwa bofuzo - kumuntu noma umndeni, kuncike ekutheni lesi sifo sitholakala ngofuzo noma cha;
• izinsiza-kuzwa - esimweni conductive ubuthulu;
• ukwelashwa kwamazinyo, kuhlanganise orthodontic okuhloswe ngaso kokulungisa malocclusion;
• kokwelashwa amakilasi ukuthuthukisa ikhono elihle lokukhulumisana nabanye. Inkulumo pathologists futhi sisebenze nabantu unenkinga ukugwinya ukudla noma isiphuzo;
• Amasu okuhlinza ukuthi kuzosiza ukuthuthukisa ukubukeka nezinga lokuphila.