Sesosa sa Usher e ka ba lebaka leo motho e mong eo u mo tsebang a sa utloeng litsebeng ebile a foufetse
Usher syndrome ke boloetse bo atisang ho baka pono le tahlehelo ea kutlo . Bothata bona ba liphatsa tsa lefutso bo nkoa bo le boima ba motlakase, bo bolelang hore batsoali ba babeli ba lokela ho fetisetsa tšobotsi ea hore ngoana oa hao a hlahe le boloetse bona. Ka mantsoe a mang, bobeli ba batsoali ba na le lefu lena kapa ba jereng (ba na le motsoali a le mong ea fetisitseng tšobotsi, empa e lula e le sieo) ea bothata.
Le hoja e le ntho e sa tloaelehang, ho etsahala feela ka hoo e ka bang 4 ho ea ho ba 5 ho batho ba 100 000, ho nkoa e le sesosa se tloaelehileng sa ho ba le bofofu le ho se utloe, 'me se etsa karolo ea 50 lekholong ea linyeoe tsena. Ho na le mefuta e meraro e fapaneng ea lefu la Usher. Mofuta oa I & II ka bomalimabe ke mefuta e matla ka ho fetisisa le e tloaelehileng ka ho fetisisa. Mofuta oa III, oo e leng o monyenyane ka ho fetisisa oa mefuta e fapaneng ea lefu la Usher, ke feela litlaleho tse ka bang 2 ho tse 100 ntle le haeba u tsoa setsong sa Finland, ebe joale o ka ikarabella ho feta karolo ea 40 lekholong ea linyeoe.
Liphetoho tsa lefutso
Sether syndrome e nkoa e le bothata ba congenital, e leng se bolelang hore lefu lena le bakoa ke DNA nakong ea tsoelo-pele. Esita le haeba lefu la Usher le sa hlahe ho fihlela hamorao bophelong, le ntse le amana le tsoelo-pele pele le hlaha. Ho na le liphetoho tse tsejoang tse 11 tse tsebahalang liphatsa tsa lefutso tsa DNA tse amang liprotheine tse ka bakang Usher syndrome. Leha ho le joalo liphetoho tse tloaelehileng haholo ke tsena:
- MYO7A - Mofuta oa I
- CDH23 - Mofuta oa I
- USH2A - Mofuta oa II
- CLRN1 - Mofuta oa III
Mathata a mangata a amanang le liphetoho tsa liphatsa tsa lefutso a amana le liprotheine tse hlokahalang bakeng sa ntshetsopele ea lisele tse khethehileng tsa moriri ka har'a tsebe ea hau ea hare (cilia), hammoho le li-photoreceptor tsa molamu le li-cone mahlong a hau. Ntle le cilia e loketseng (e leng ka hare ho tsebe ea hau, ho leka-lekanya le mekhoa ea ho utloa e tla fokola.
Photoreceptor ea molamu e na le litebello tse bonolo ho u lumella hore u lule u le teng ha ho na le leseli le lenyenyane le fumanehang. Litšoantšo tsa photoeleceptors li lumella hore u bone mebala le ha leseli le khanyang.
Matšoao a Usher Syndrome
Matšoao a rona a Usher syndrome ke tahlehelo ea kutlo ea kutlo ea tlhaho le mokhoa oa ho lahleheloa ke pono e bitsoang retinitis pigmentosa (RP). Retinitis pigmentosa e khetholloa ke tahlehelo ea mantsiboea e lateloa ke mahlo a foufetseng a amang pono ea pono. Qetellong sena se ka lebisa ponong ea pono le nts'etsopele ea lik'hemik'hale. Matšoao a fapana ho latela mofuta oa Usher syndrome eo motho a nang le eona.
Thapa I
- hangata ka ho feletseng kapa haholo litsebeng litsebeng tse peli ho tloha nakong ea tsoalo
- mathata a tekanyo - hangata a lebisang ho lieha ho ntlafatso ea motlakase (ho lutse, ho tsamaea joalo-joalo ...)
- Mathata a RP-pono a qalang ho ntshetsa pele ka lilemo tse 10 mme a hatela pele ka potlako ho fihlela bofofu bo feletseng bo hlaha
Mofuta oa II
- ea tsoetsoeng a e-na le bokooa bo tebileng
- ea tsoaloang ka tekanyo e tloaelehileng
- RP - tahlehelo ea pono e ntseng e tsamaea butle ho feta mofuta oa I
Mofuta oa III
- tlhaho e tloaelehileng ha e tsoaloa
- ho lahleheloa ke maikutlo ho ka 'na ha hlaha hamorao bophelong
- e tloaelehileng kapa e haufi le ho leka-lekaneng ha ho hlaha
- e ka 'na ea hlahisa mathata a leka-lekaneng hamorao bophelong
- Hangata ho hlahisa mathata a pono ka nako e itseng - boima bo fapana pakeng tsa batho
Ho Khetholla Matšoao a Usher
Haeba u na le motsoako oa ho lahleheloa ke kutlo, ho lahleheloa ke pono, le mathata kapa ho leka-lekanya ngaka ngaka ea hao e ka 'na ea belaella Syndrome ea Usher. Liteko tse sa tšoaneng tsa litekanyetso tse kenyeletsang liteko tsa tšimo, liteko tsa retinal, le electroretinogram (ERG) li thusa ho hlahloba lefu la Usher le ho hlahlojoa ha lipatlisiso. Electronystagmogram (ENG) e ka thusa ho lemoha mathata a leka-lekaneng.
Liphatsa tsa lefutso tse sa tšoaneng (hoo e batlang e le 11, tse nang le tse ling tse ka fumanoang) li 'nile tsa amahanngoa le syndrome ea Usher. Ho na le liphatsa tsa lefutso tse ngata tse amanang le lefu lena la tlhahlobo ea liphatsa tsa mafu tsa lefutso ha lia ka tsa thusa haholo ho thusa ka ho hlahloba boemo.
Kalafo ea Usher Syndrome
Ha ho pheko bakeng sa lefu la Usher. Leha ho le joalo, o ka rera phekolo ea Usher syndrome ho laola matšoao. Kalafo ea matšoao e ka thehiloe ho khetho ea hau hammoho le ts'ebelisano ea ngaka ea hau, le mofuta oa Usher syndrome eo u nang le eona. Lingaka tse sa tšoaneng tsa bongaka le mekhoa ea phekolo e ka 'na ea hlokahala litsing tse fapaneng bophelong bohle ba motho mme e kenyelletsa litsebi tsa litsebi tsa lipuo, litsebi tsa puo , litsebi tsa ' mele le tsa mosebetsi, li-opthalmologists le tse ling. Litlhare tse latelang li ka ba molemo ho laola syndrome ea Usher.
Thapa I
Lisebelisuoa tsa kutlo hangata ha li na thuso ho mofuta ona oa syndrome ea Usher. Li-implants tsa cochlear e ka 'na ea e-ba khetho' me e ka ntlafatsa haholo boleng ba bophelo. Tlhahlobo ea pele ea ts'oaetso ke ea bohlokoa e le hore mefuta e meng ea puisano e kang Puo ea Matsoho ea Amerika (ASL) e ka rutoa. Tlhokomelo e khethehileng e lokela ho sebelisoa tabeng ea ho khetha mokhoa oa puisano, ka mohlala, ASL e ka 'na ea se ke ea e-ba khetho e ntle bakeng sa batho ba nang le pono e khōlō ea tahlehelo.
Ho leka-lekanya le ho tsosolosa mahlahahlaha ho ka ba molemo ho laola liphello tsa tsebe ea ka hare ho kenyeletsoa ho lahleheloa ke tekano kapa mokoloko. Kalafo bakeng sa mathata a pono e ka kenyelletsa thupelo ea braille, lisebelisoa tsa ho thusa ka pono ea bosiu, kapa ho buuoa ka cataract. Liphoofolo tsa tšebeletso, (tse kang ntja ea tataiso), li ka boela tsa thusa ho itšetlehile ka maemo.
Mofuta oa II
Lisebelisoa tsa ho utloa li ka ba molemo hammoho le mekhoa e meng ea phekolo ea melomo e kang li-implants tsa cochlear. Liphuputso tse ling li bontša hore vithamine A supplementation e ka ba molemo ho fokotsa tsoelo-pele ea RP ka mofuta oa II le III Usher syndrome. Leha ho le joalo, o lokela ho botsa ngaka ea hau pele u leka sena 'me u tiise hore u:
- ha ba na moimana kapa ha ba rera ho ima, kaha tekanyo e phahameng ea Vithamine A e ka baka mathata a tsoalo
- u se ke ua tlatsetsa ka beta carotene
- u se ke ua nka UU e fetang 15 000
Mofuta oa III
Kenyelletso ea litlhare tse sebelisitsoeng ho mofuta oa I le II ho itšetlehile ka boholo ba matšoao.
Phuputso e tsoelang pele ea lefu la Usher e ntse e tsoela pele 'me phekolo ea ka moso e ka ba teng.
Lisebelisoa:
Mokhatlo oa Amerika oa Puo-Puo. Ho utloisisa Usher Syndrome. E fihletsoe: la 26 August, 2016 ho tloha ho http://www.asha.org/Articles/Understanding-Usher-Syndrome/
Reference Reference Home. Usher Syndrome. E fihletsoe: la 26 August, 2016 ho tloha https://ghr.nlm.nih.gov/condition/usher-syndrome
Kimberling, WJ & Lindenmuth, A. (2006). Usher Syndromes. Li-Seminars tse Utloang, 27 (3): 182-192.
Setsi sa Sechaba sa Bokooa le Mathata a Puisano. Usher Syndrome. E fihletsoe: la 26 August, 2016 ho tloha https://www.nidcd.nih.gov/health/usher-syndrome
Mokhatlo oa Sechaba oa Mathata a Tloaelehileng. Usher Syndrome. E fumaneha: la 26 August, 2016 ho tloha ho http://rarediseases.org/rare-diseases/usher-syndrome/