Treacher-Collins ciwo: Bayyanar cututtuka, Sanadin kuma Jiyya

Treacher-Collins ciwo shafar ci gaban kashi da sauran tsokoki da fuska. Da ãyõyinMu, kuma bayyanar cututtuka da wannan cuta na iya bambanta da yawa, daga kusan imperceptible mai tsanani. Mafi yawa daga cikin wadanda aka ci zarafinsu da underdeveloped fuska kasũsuwa, ashe, musamman, cheekbones, da kuma wani sosai kananan muƙamuƙi kuma Chin (a jarirai). Wasu mutane da ciwo Treacher-Collins haife tare da wani rami a bakinsa, wanda ake kira "kogon palate". A tsanani lokuta, da underdevelopment na gyara man fuska ƙasũsuwa iya iyakance shafa Airways, haddasa yiwuwar rai barazana cuta.

Sau da yawa mutane tare da wannan ido cuta suna karkata zuwa ƙasa, m gashin idanu, akwai wani lahani na ƙananan eyelids, kira coloboma. Wannan sa ƙarin ophthalmic cuta da cewa zai iya kai wa ga wahayin hasãra. Bugu da kari, akwai iya zama kananan ko rashin siffa kunnuwa ko su rashi. Ji asarar faruwa a game da rabin lokuta. Yana results daga lahani a cikin uku kananan kasusuwa na tsakiyar kunne, wanda aika da sauti ko underdeveloped kunne canal. A gaban da ciwo Treacher Collins ba ya shafar m: matsayin mai mulkin, shi ne al'ada.

Maye gurbi a genes wanda sa Treacher-Collins ciwo?

Mafi na kowa hanyar: maye gurbi a cikin kwayoyin halittu TCOF1, POLR1C ko POLR1D. Gene maye gurbi TCOF1 - cikin hanyar 81-93% na duk lokuta. POLR1C da POLR1D - wani karin 2% na lokuta. A mutane ba tare da wani takamaiman maye gurbi na daya gene hanyar da cuta ne ba a sani ba.
Kwayoyin halittu TCOF1, POLR1C, kuma POLR1D taka muhimmiyar rawa a cikin farkon cin gaban ƙasũsuwa da sauran tsokoki da fuska. Cewa suna da hannu a samar da kwayoyin kira ribosomal RNA (rRNA), da sinadaran dan uwan DNA 'yan'uwa mãtã. Ribosomal RNA taimaka wajen tattara tubalan sunadaran (amino acid) a cikin sabon sunadaran, wanda ake bukata domin al'ada aiki, da kuma cell rayuwa. Maye gurbi na genes TCOF1, POLR1C, ko POLR1D yanke samar rRNA. Masu bincike yi imani da cewa rage adadin rRNA iya kai wa ga kai-halakar takamaiman Kwayoyin da hannu a cikin ci gaban da fuska ƙasũsuwa da kyallen takarda. Mahaukaci cell mutuwa na iya haifar da wasu matsaloli da ci gaban da fuskoki na mutane da Treacher Collins ciwo.

Kamar yadda gaji ciwo Treacher-Collins?

Idan cutar ta auku saboda gene maye gurbi ko TCOF1 POLR1D, an yi imani da cewa shi ne - wani autosomal rinjaye cuta. Game da 60% na lokuta suna lalacewa ta hanyar sabon maye gurbi a cikin gene da ya auku a cikin mutane tare da wani tarihi na tashin hankali. A wasu lokuta, da ciwo da aka gada ta mutated gene daga iyayensu.

Lokacin da cutar ne ya sa ta maye gurbi a cikin gene POLR1C, an yi imani da cewa shi ne - wani autosomal recessive juna na gādo. A iyaye na wani mutum da wani autosomal recessive cuta da daya kwafin na mutated gene, amma da suka saba ba su nuna alamu da bayyanar cututtuka da cutar.

ciwo magani

Jiyya dogara da tsanani daga cikin yanayin, amma na iya sun hada da:

• Halitta shawara - ga wani mutum ko iyali, dangane da ko da cuta ne hereditary ko ba;
• da jin AIDS - a cikin hali na conductive ji hasara.
• hakori magani, ciki har orthodontic da nufin gyara malocclusion.
• jawabin far azuzuwan don inganta hanyoyin sadarwa. Jawabin pathologists kuma aiki tare da mutanen da suke da matsala hadiya abinci ko abin sha.
• M dabarun da za su taimaka inganta bayyanar da kuma ingancin rayuwa.