I-Usher syndrome kungenzeka ukuthi umuntu owaziyo kokubili uyisithulu futhi uyimpumputhe
I-Usher syndrome iyisifo esivame ukubangela kokubili ukulahlekelwa kombono nokuzwa . Lesi sifo sezofuzo sibhekwa njengesimo esiphezulu se-autosomal, okusho ukuthi bobabili abazali kufanele badlulisele umkhuba wokuthi ingane yakho izalwe nalesi sifo. Ngamanye amazwi, bobabili abazali banalo ukuphazamiseka noma abathwali (babe nomzali ongu-1 owadlulisela kulo mkhuba, kodwa usalokhu uhlezi) we-disorder.
Nakuba kungavamile, kwenzeka kuphela ngo-4 kuya ku-5 kubantu abayi-100,000, kubhekwa njengesizathu esivame kakhulu sokuba nobubumpumputhe nokuzithulu, futhi kubalwa ngamaphesenti angaba ngu-50 alawa mathuba. Kunezinhlobo ezintathu ezahlukene ze-Usher syndrome. Thayipha i-I & II ngeshwa izinhlobo ezimbi kakhulu nezivame kakhulu. Uhlobo lwe-III, okuyinto encane kunazo zonke zezinhlobo ezahlukene ze-Usher syndrome, kuphela okubalwa ngamacala angu-2 kwangu-100 ngaphandle kokuthi unesizinda se-Finnish, futhi-ke singabhekana namaphesenti angu-40 amacala.
I-Genetic Mutations
I-Usher syndrome ibhekwa njengesifo sokuzalwa, okusho ukuthi lesi sifo sibangelwa i-DNA ngesikhathi sokuthuthukiswa. Ngisho noma i-Usher syndrome ingabonakali kuze kube sekugcineni empilweni, isalokhu ihlobene nentuthuko ngaphambi kokuzalwa. Kunezinguquko ezingu-11 ezaziwayo ezakhiweni ze-DNA ezithinta amaprotheni angabangela i-Usher syndrome. Kodwa izinguquko ezivame kakhulu:
- I-MYO7A - Thayipha I
- I-CDH23 - Thayipha I
- USH2A - Uhlobo II
- I-CLRN1 - Uhlobo III
Iningi lezinkinga ezihlotshaniswa nezinguquko zofuzo zihlobene namaprotheni adingekayo ekuthuthukiseni amaseli ezinwele ezikhethekile ngaphakathi kwezindlebe zakho zangaphakathi (cilia), kanye nezinduku nama-photoeceptors enkona emehlweni akho. Ngaphandle kwe-cilia efanele (okuyizindlebe zakho zangaphakathi, ukulinganisela nezindlela zokuzwa kuzophelelwa amandla.
I-photoreceptors yenduku ihlolisisa ukuvumela ukuthi uqhubeke uma kukhona ukukhanya okuncane okutholakalayo. I-photoreceptors ye-cone ikuvumela ukuba ubone imibala futhi uma ukukhanya kukhanya.
Izimpawu ze-Usher Syndrome
Izimpawu ezisemqoka ze-Usher syndrome zilahlekelwa ukuzwa kwezinto ezizwakalayo kanye nokulahlekelwa kombono okuthiwa i- retinitis pigmentosa (RP). I-Retinitis pigmentosa ibonakala ngokulahlekelwa kombono ebusuku okulandelwa yizindawo eziyimpumputhe ezithinta umbono wendawo. Lokhu ekugcineni kungaholela embonweni womugudu kanye nokuthuthukiswa kwezidakamizwa. Izimpawu ziyahlukahluka kuye ngokuthi uhlobo lwe-Usher syndrome umuntu analo.
Thayipha I
- ngokuvamile ngokugcwele noma ikakhulukazi isithulu ezindlebeni zombili kusukela ngesikhathi sokuzalwa
- izinkinga zokulinganisela - okuvame ukuholela ekulibazisekeni ekuthuthukiseni imoto (ukuhlala, ukuhamba njll ...)
- Izinkinga zombono we-RP eziqala ukukhula ngaminyaka engu-10 futhi zithuthuka ngokushesha kuze kube yilapho ubumpumputhe obuphelele bukhona
Uhlobo II
- ozelwe ngokulinganisela ukuze abe nesithulu esinzima
- ozelwe ngokulinganisela okujwayelekile
- I-RP - ukulahlekelwa kombono okuqhubeka kancane kancane kunhlobo I
Uhlobo III
- ukuzwa okuvamile ngesikhathi sokuzalwa
- ukulahlekelwa ukuzwa kungase kuthuthuke kamuva ekuphileni
- okujwayelekile noma eduze kwesilinganiso esivamile ekuzalweni
- ingase ihlakulele izinkinga zokulinganisela kamuva ekuphileni
- ngokuvamile ukuthuthukisa izinkinga zombono ngesikhatsi esithile - ubukhulu buhluka phakathi kwabantu
Ukuhlonza i-Usher Syndrome
Uma unenhlanganisela yokulahlekelwa kwezindlebe, ukulahleka kombono, noma ukuxazulula izinkinga udokotela wakho angase asolise i-Usher syndrome. Izivivinyo ezihlukahlukene zokubonwa ezihlanganisa ukuhlolwa kwendawo yokubukwa, ukuhlolwa kwe-retinal, kanye ne-electroretinogram (ERG) kuyasiza ekuhloleni i-Usher syndrome kanye nokuhlolwa kwe-audiology. I-electronystagmogram (ENG) ingaba usizo ekutholeni izinkinga zokulinganisela.
Izakhi zofuzo eziningi (cishe 11, okungenzeka ukuthi zitholakala ngaphezulu) ziye zaxhunyaniswa ne-Usher syndrome. Njengoba izakhi zofuzo eziningi ezithintekayo kulesi sifo sokuhlolwa kwesifo se-syndrome asizange zisisize ngokukhethekile ekusizeni ukuxilongwa kwesimo.
Ukwelashwa kwe-Usher Syndrome
Ayikho ikhambi le-Usher syndrome. Noma kunjalo, ungahlose ukwelashwa kwe-Usher syndrome ukuphatha izimpawu. Ukwelashwa kwezimpawu kungase kusekelwe ekuthandeni kwakho kanye nokusebenzisana nodokotela wakho, kanye nohlobo lwe-Usher syndrome onayo. Abachwepheshe bezokwelapha ezihlukahlukene kanye nezinhlobo zokwelapha kungadingeka kumaphuzu ahlukene phakathi nokuphila komuntu ngabanye futhi kungafaka phakathi izikhulumi ze-audiologists, abahlengikazi bezinkulumo , abathintekayo bezempilo kanye nabasebenzi, opthalmologists nokuningi. Lezokwelapha ezilandelayo zingasiza ekulawuleni i-Usher syndrome.
Thayipha I
Izinsiza zokuzwa ngokuvamile azizuzisi ngalolu hlobo lwe-Usher syndrome. Izimpande ze-cochlear zingase zikhethwe futhi zingathuthukisa kakhulu izinga lempilo. Ukuxilongwa kokuqala kubalulekile ukuze ezinye izindlela zokuxhumana ezifana ne-American Sign Language (ASL) zifundiswe. Ukucatshangelwa okukhethekile kufanele kusetshenziswe ekukhetheni uhlobo lokuxhumana, isibonelo se-ASL angeke sibe yindlela enhle kubantu abanemibono yokulahlekelwa okukhulu.
Ukulungiswa kokulinganisela nokuvuselela izidakamizwa kungasiza ekulawuleni imiphumela yendlebe yangaphakathi kuhlanganise nokulahlekelwa kwesilinganiso noma isizungu. Ukwelashwa kwezinkinga zombono kungafaka imfundo ye-braille, amadivaysi okusiza ngombono ebusuku, noma ukuhlinzwa kwe-cataract. Izilwane zesevisi, (njengenja yokuqondisa), zingasiza futhi kuye ngezimo.
Uhlobo II
Izinsiza zokuzwa zingase zisebenzise kanye nezinye izilashwa ze-audiology ezifana nezimpande ze-cochlear. Olunye ucwaningo lubonisa ukuthi i-vitamin A supplementation ingaba nenzuzo ekunciphiseni ukuqhubekela phambili kwe-RP ngohlobo lwe-II no-III Usher syndrome. Noma kunjalo, kufanele uxhumane nodokotela wakho ngaphambi kokuzama lokhu futhi uqinisekise ukuthi:
- abakhulelwe noma ukuhlela ukukhulelwa, njengoba ukuphakama okukhulu kweVithamini A kungabangela ukukhubazeka kokuzalwa
- unganikeli nge-beta carotene
- ungathathi ngaphezu kuka-15,000 IU
Uhlobo III
Inhlanganisela yezokwelapha ezisetshenziswa ngohlobo I no-II kuye ngokuthi ubukhulu bezimpawu.
Ucwaningo oluqhubekayo lwe-Usher syndrome luqhubeka futhi ukwelashwa okuzayo kungatholakala.
Imithombo:
I-American Speech-Language-Hearing Association. Ukuqonda i-Usher Syndrome. Kufinyelelwe: ku-Agasti 26, 2016 kusuka ku-http: //www.asha.org/Articles/Understanding-Usher-Syndrome/
I-Genetics Home Reference. Usher Syndrome. Kufinyelelwe: ku-Agasti 26, 2016 kusuka ku-https://ghr.nlm.nih.gov/condition/usher-syndrome
Kimberling, WJ & Lindenmuth, A. (2006). Ama-syndrome we-Usher. Ama-Seminars ekuzwa, 27 (3): 182-192.
Isikhungo Sokuzizwa Sokuzizwa Nezinye Izinkinga Zokuxhumana. Usher Syndrome. Kufinyelelwe: ku-Agasti 26, 2016 kusuka ku-https: //www.nidcd.nih.gov/health/usher-syndrome
Inhlangano Kazwelonke Yezinkinga Ezinzima. Usher Syndrome. Kufinyelelwe: ku-Agasti 26, 2016 kusuka ku-http://rarediseases.org/rare-diseases/usher-syndrome/