Treacher-Collins lefu: Matšoao, Sesosa le Phekolo

Treacher-Collins lefu ama ntshetsopele ya bone bone le lisele tse ling tsa sefahlehong. Lipontšo le matšoao a boloetse bona a ka fapana haholo, ho tloha hoo e ka bang imperceptible ho matla. Boholo ba bahlaseluoa ba na le masapo a underdeveloped sefahleho, ka ho khetheha, cheekbones, le mohlahare e nyenyane haholo le selelu (ka masea a). Batho ba bang ba le lefu Treacher-Collins tsoaloa re ena le phunya lesoba ka molomo, e leng o bitsoa "lefarung mahalapa". Maemong a matla, le ntshetsopele e fokolang ea masapo ea sefahleho le ka fokotsa Lufthansa seo ba anngoeng, a etsa hore lefu le ka 'nang beha bophelo kotsing.

Hangata batho ba nang le lefu lena mahlo a khelositse tlaase, eyelashes seoelo, ho na le sekoli ea dintshi e ka tlaase, e bitsoang coloboma. Sena se etsa hore mafu a eketsehileng mahlo hore ho ka etsa hore ho lahleheloa ke pono. Ho phaella moo, ho ka ba le litsebe tsa nyenyane kapa e sa tloaelehang e bopehileng kapa ba sieo tsa bona. Utloa ho lahleheloa ke le hlaha e ka bang ka halofo ea linyeoe. Ho fella ho tloha likoli ka masapo a mararo tse nyenyane tsa tsebe bohareng, e leng fetisa molumo oo kapa underdeveloped tsebe kanale. Ho ba teng ha lefu Treacher Collins ha ho ame bohlale: e le busa, ho ke ke ntho e tloaelehileng.

Liphetoho liphatseng tsa lefutso ka liphatsa tsa lefutso e bakang lefu Treacher-Collins?

Sesosa atileng ka ho fetisisa: liphetoho liphatseng tsa lefutso tse liphatsa tsa lefutso TCOF1, POLR1C kapa POLR1D. Gene phetoho liphatseng tsa lefutso TCOF1 - sesosa sa 81-93% ya maemong 'ohle. POLR1C le POLR1D - ee eketsehileng 2% la linyeoe. Ka motho ka mong ka ntle ho phetoho liphatseng tsa lefutso e itseng hore na sesosa phatsa ea lefutso e mong oa lefu lena le ke e sa tsejoeng.
Liphatsa tsa lefutso TCOF1, POLR1C, le POLR1D phetha karolo ea bohlokoa ka ho ntshetsa pele ba pele ba masapo a ka le lisele tse ling tsa sefahlehong. Di amehang ho hlahisa limolek'hule bitsoa ribosomal RNA (rRNA), lik'hemik'hale motsoala DNA barali babo rōna. Ribosomal RNA thusa ho bokella diboloko di liprotheine (-amino acid) ka liprotheine tse ncha, tse hlokahalang bakeng sa tshebetso e tloaelehileng, 'me ho pholoha seleng. Liphetoho liphatseng tsa lefutso tsa liphatsa tsa lefutso TCOF1, POLR1C, kapa tlhahiso ea POLR1D sehiloeng rRNA. Bafuputsi ba lumela hore ho fokotsa palo ea rRNA ho ka etsa hore ho intša ho timetsoa ha lisele tse itseng amehang ntshetsopele ya masapo ea sefahleho le lisele. E sa tloaelehang lefu seleng e ka 'na ea baka mathata a itseng le tsoelo-pele ea lifahleho tsa batho ba nang le lefu Treacher Collins.

Ka seo re se futsitseng lefu Treacher-Collins?

Ha lefu lena le hlaha ka lebaka la liphetoho tse bang teng phatsa ea lefutso kapa TCOF1 POLR1D, ho lumeloa hore e - e autosomal laolang ho hloka taolo. Ka bang 60% ea linyeoe a bakoa ke liphetoho liphatseng tsa lefutso tse ncha ka phatsa ea lefutso e le hlaha ka batho ba nang le na histori ea liketso tse mabifi. Maemong a mang, lefu e futsitseng ka ho phatsa ea lefutso mutated ho batsoali ba bona.

Ha lefu lena le ho bakoa ke liphetoho tse bang teng ka POLR1C phatsa ea lefutso, ho lumeloa hore e - e autosomal recessive mohlala oa lefa. Batsoali ba motho a le mong ka autosomal recessive ho hloka taolo le kopi e 'ngoe ea phatsa ea lefutso mutated, empa hangata ba u se ke ua iponahatsa lipontšo le matšoao a lefu lena.

syndrome, kalafo

Phekolo itšetlehile ka ho tiea tsa boemo ba, empa ka 'na e kenyeletsa:

• Liphatseng tsa lefutso tlhabollo - bakeng sa motho a le mong kapa lelapa, ho itšetlehile ka hore na lefu ke lefa kapa che;
• utloa lithuso tse - ka tabeng ea conductive utloeng sa tahlehelo;
• kalafo meno, ho akarelletsa le orthodontic ikemiseditse ho khalemela malocclusion;
• litlelase puo phekolo ho ntlafatsa tsebo ea ho buisana. Puo pathologists hape sebetsa le batho ba nang le bothata engole lijo kapa seno;
• Ho buoa mekhoa eo e tla re thusa ho ntlafatsa ponahalo le boleng ba bophelo.