Treacher collins syndrome ke eng, lisosa, matšoao le kalafo

Litaba

• Lisosa tsa lefu la Treacher Collins
• Matšoao a ka bang teng
• Kalafo e etsoa joang

Treacher Collins syndrome, eo hape e bitsoang mandibulofacial dysostosis, ke lefu le sa tloaelehang la liphatsa tsa lefutso le khetholloang ke ho holofala hloohong le sefahlehong, le siea motho a le mahlo a hlonameng le mohlahare o iketlileng ka lebaka la nts'etsopele ea lehata, e ka etsahalang ho banna joalo ka basali.

Ka lebaka la sebopeho se fosahetseng sa masapo, batho ba nang le lefu lena ba ka thatafalloa ke ho utloa, ho hema le ho ja, leha ho le joalo, lefu la Treacher Collins ha le eketse kotsi ea lefu mme ha le ame tsamaiso ea methapo e bohareng, ho lumella kholo hore e etsahale ka mokhoa o tloaelehileng.

Lisosa tsa lefu la Treacher Collins

Lefu lena le bakoa haholo ke liphetoho tsa lefutso lefung la TCOF1, POLR1C kapa POLR1D le fumanehang chromosome 5, e kenyang protheine e nang le mesebetsi ea bohlokoa ho boloka lisele tse tsoang mokokotlong oa methapo ea kutlo, e leng lisele tse tla theha masapo a tsebe, sefahleho hape le litsebe nakong ea libeke tsa pele tsa kholo ea popelo.

Treacher Collins syndrome ke lefu le ikhethileng la liphatsa tsa lefutso, ka hona monyetla oa ho tšoaetsoa ke lefu lena ke 50% haeba motsoali a le mong a na le bothata bona.

Ho bohlokoa hore ngaka e etse phapang ea tšoaetso ea mafu a mang a kang Goldenhar's syndrome, Nager's acrofacial dysostosis le Millers's syndrome, kaha a hlahisa matšoao le matšoao a tšoanang.

Matšoao a ka bang teng

Matšoao a lefu la Treacher Collins a kenyelletsa:

• Mahlo a ho fifala, molomo o petsohileng kapa marulelo a molomo;
• Litsebe tse nyane haholo kapa tse sieo;
• Ho ba sieo ha li-eyelashes;
• Tahlehelo ea kutlo e tsoelang pele;
• Ho hloka masapo a mang a sefahleho, joalo ka marama le mehlahare;
• Bothata ba ho hlafuna;
• Mathata a phefumolohang.

Ka lebaka la ho holofala ho hlakileng ho bakoang ke lefu lena, matšoao a kelello a ka hlaha, joalo ka khatello ea maikutlo le ho teneha habonolo, tse hlahang ka ho fapanyetsana mme li ka rarolloa ka kalafo ea kelello.

Kalafo e etsoa joang

Kalafo e tlameha ho etsoa ho latela matšoao le litlhoko tse ikhethang tsa motho e mong le e mong, mme leha ho se na pheko ea lefu lena, ho ka etsoa opereishene ho hlophisa masapo a sefahleho, ho ntlafatsa botle le tšebetso ea litho le tsa kutlo .

Ntle le moo, kalafo ea lefu lena e boetse e na le ho ntlafatsa mathata a ka bang teng a ho hema le mathata a ho fepa a etsahalang ka lebaka la bofokoli ba sefahleho le tšitiso ea hypopharynx ke leleme.

Kahoo, ho kanna hoa hlokahala ho etsa tracheostomy, ho boloka sephethephethe sa moea se lekaneng, kapa gastrostomy, e tla fana ka tiiso ea phepo e nepahetseng ea khalori.

Maemong a tahlehelo ea kutlo, tlhahlobo e bohlokoa haholo, e le hore e ka lokisoa ka ts'ebeliso ea litho tsa maiketsetso kapa ho buuoa.

Lenaneo la kalafo ea puo le lona le ka bonts'oa ho ntlafatsa puisano ea ngoana le ho thusa ho metsa le ho hlafuna.