Mene ne cututtukan rikice-rikice na rikice, rikice-rikice, cututtuka da magani

Wadatacce

• Abubuwan da ke haifar da ciwo na Treacher Collins
• Matsaloli da ka iya faruwa
• Yadda ake yin maganin

Ciwan Treacher Collins, wanda kuma ake kira mandibulofacial dysostosis, wata cuta ce ta ƙwayoyin cuta wacce ke da nasaba da nakasa a kai da fuska, yana barin mutumin da idanuwansa sun ruɓe da mawuyacin hali saboda rashin ci gaban ƙwanƙwan kai, wanda zai iya faruwa ga maza kamar yadda yake a cikin mata.

Saboda rashin ingantaccen kashi, mutanen da ke fama da wannan ciwo na iya samun wahalar ji, da numfashi da kuma ci, duk da haka, cutar Treacher Collins ba ta ƙara haɗarin mutuwa ba kuma ba ta shafar tsarin jijiyoyi na tsakiya, yana barin ci gaba ya kasance yadda ya kamata.

Abubuwan da ke haifar da ciwo na Treacher Collins

Wannan cututtukan yana faruwa ne ta hanyar maye gurbi a cikin TCOF1, POLR1C ko POLR1D gene dake cikin chromosome 5, wanda ke sanya furotin tare da mahimman ayyuka a kula da ƙwayoyin da aka samo daga ƙashin jijiyoyin jiki, waɗanda sune ƙwayoyin da zasu samar da ƙasusuwan kunne, fuska da kuma kunnuwa yayin makonnin farko na ci gaban amfrayo.

Ciwon yaudara Collins ciwo ne mai rikitarwa a cikin ƙwayoyin cuta, don haka yiwuwar kamuwa da cutar ita ce kashi 50% idan iyaye ɗaya suna da wannan matsalar.

Yana da mahimmanci ga likita yayi bincike na daban na wasu cututtukan kamar su ciwon Goldenhar, ciwon Nyro na acrofacial dysostosis da Millers 'syndrome, kamar yadda suke gabatar da alamu iri iri.

Matsaloli da ka iya faruwa

Kwayar cututtukan cututtukan masu yaudara Collins sun hada da:

• Idanuwa masu tsini, lebe ko rufin baki;
• Smallananan ƙanana ko rashi kunnuwa;
• Rashin gashin ido;
• Rashin ci gaban ci gaba;
• Rashin wasu kasusuwa na fuska, kamar su kunci da hammata;
• Wahala wajen taunawa;
• Matsalar numfashi.

Saboda bayyananniyar nakasa da cutar ta haifar, alamun cututtukan halayyar mutum na iya bayyana, kamar su bakin ciki da bacin rai, wadanda ke bayyana a wani lokaci kuma ana iya magance su tare da ilimin halayyar dan adam

Yadda ake yin maganin

Dole ne a yi magani bisa ga alamun cutar da kuma takamaiman bukatun kowane mutum, kuma duk da cewa babu magani ga cutar, ana iya yin aikin tiyata don sake tsara kasusuwa na fuska, inganta ƙyamar jiki da aikin gabobi da kuma azanci .

Bugu da kari, maganin wannan ciwo kuma ya kunshi inganta yiwuwar rikicewar numfashi da matsalolin ciyarwa da ke faruwa saboda nakasar fuska da toshewar hypopharynx da harshe.

Don haka, yana iya zama wajibi don yin tracheostomy, don kiyaye isasshen hanyar iska, ko gastrostomy, wanda zai ba da tabbacin cin abinci mai amfani da caloric mai kyau.

A cikin matsalar rashin jin magana, ganewar cutar na da matukar muhimmanci, ta yadda za a iya gyara ta tare da amfani da hanyoyin roba ko tiyata, misali.

Hakanan za'a iya nuna zaman gyaran magana don inganta sadarwa ta yaro da kuma taimakawa yayin haɗiyewa da taunawa.