I-Usher syndrome ingaba kutheni umntu owaziyo isisithulu kunye nesimfama
I-Usher syndrome yintlupheko edla ngokubangela ukuba umbono kunye nokulahlekelwa kwindlebe . Le ngxaki yezofuzo ithathwa njengento ye-autosomal, echaza ukuba bobabini abazali kufuneka badlule umgangatho wokuba umntwana azalwe nale ngxaki. Ngamanye amazwi, bobabini abazali banesifo okanye iithwali (unomzali ongu-1 ogqityiweyo, kodwa uhlala uhleli).
Nangona kunqabile, kwenzeka kuphela kwi-4 ukuya ku-5 kubantu abayi-100,000, kuthathwa njengesona sizathu esibalulekileyo sokuba nobumfama kunye nentsifo, kwaye i-akhawunti engama-50 ekhulwini la matyala. Kukho iintlobo ezahlukeneyo ze-Usher syndrome. Uhlobo lwe-I & II ngelishwa ngolu hlobo oluqhelekileyo nolunezona zifom. Uhlobo lwe-III, olona luhlu oluncinci lweentlobo ezahlukeneyo ze-Usher syndrome, kuphela i-akhawunti engama-2 kwi-100 kwiimeko ngaphandle kokuba unesizalo saseFinland, kwaye ke unokuphendula ngokuphakamileyo njengama-40 ekhulwini lamatyala.
Iintshukumo zoMzimba
Isher syndrome ithathwa njengengxaki yokuzalwa komntwana, oko kuthetha ukuba ukukhubazeka kubangelwa yi-DNA ngexesha lophuhliso. Nangona i-Usher syndrome ingabonakali kude kube yinkomfa ebomini, isabelana nophuhliso ngaphambi kokuzalwa. Kukho iinguqu ezi-11 ezaziwayo kwii-gene ze-DNA ezichaphazela iiprotheni ezinokubangela i-Usher syndrome. Nangona kunjalo utshintsho oluqhelekileyo luyilo:
- MYO7A - Uhlobo I
- CDH23 - Uhlobo I
- USH2A - Uhlobo II
- CLRN1 - Uhlobo III
Uninzi lweengxaki ezinxulumene neenguqu zofuzo zihambelana neeprotheni eziyimfuneko ekuphuhlisweni kweenwele ezikhethekileyo kwisebe yakho yangaphakathi (cilia), kunye nentonga kunye ne-photoeceptors emehlweni akho. Ngaphandle kwe-cilia efanelekileyo (ephakathi kwendlebe yakho yangaphakathi, ukulinganisela kunye neendlela zokuvalelwa kuya kuphazamiseka.
I-rodreceptor i-rodretic is sensitive-sensitive to allow you to still while there is little light. I-cone photoreceptors ikuvumela ukuba ubone imibala kwaye xa ukukhanya kukhanya.
Iimpawu ze-Usher Syndrome
Iimpawu eziphambili ze-Usher syndrome zilahlekelwa yindlebe kunye nehlobo lokulahlekelwa kombono olubizwa ngokuthi i- retinitis pigmentosa (RP). I-Retinitis pigmentosa ibonakaliswe ngophupho lokubona ebusuku elandelwa yimpawu eziyimpembelelo ezichaphazela umbono wesiphelo. Oku ekugqibeleni kukukhokelela kumbono we-tunnel kunye nokuphuhliswa kwe-cataracts. Iimpawu zihluka ngohlobo lwe-Usher syndrome umntu.
Uhlobo I
- ngokuqhelekileyo okanye isisithulu ezindlebeni zombini ukusuka ngexesha lokuzalwa
- iingxaki zokulinganisela - ezihlala zikhokelela ekulibazisekeni ekuphuhliseni imoto (ukuhlala, ukuhamba njl ...)
- Iingxaki zombono we-RP eziqala ukuphuhliswa ngama-10 ubudala kwaye ziqhube phambili ngokukhawuleza kude kube yinto eyimpumputhe
Uhlobo II
- azalwe ngokumodareyitha ukuya kwizithulu
- ozelwe ngokulinganayo
- Ukulahleka kombono we-RP oqhubela phambili kancinci kunelo hlobo I
Uhlobo III
- ukuva ngokuqhelekileyo ekuzalweni
- Ukulahleka kweendlebe kunokuphuhliswa kamva ebomini
- ngokuqhelekileyo okanye ngokuqhelekileyo ukulinganisela ekuzalweni
- unokuhlakulela iingxaki zemali emva kwexesha lobomi
- Ngokuqhelekileyo ukuphuhlisa iingxaki zombono ngexesha elithile - ubunzima buhluka phakathi kwabantu
Ukuchonga i-Usher Syndrome
Ukuba unomdityaniso wokulahlekelwa kwindlebe, ukulahleka kombono, kunye neengxaki zokulinganisela ugqirha wakho unokugxeka i-Usher syndrome. Iimvavanyo ezahlukahlukeneyo zovavanyo ezibandakanya iimvavanyo zentsimi ebonakalayo, iimviwo zokubuyisela i-retinal, kunye ne-electroretinogram (ERG) zinceda ekufumaneni i-Usher syndrome kunye nokuvavanywa kwee-audiology. I-electronystagmogram (ENG) inokuba luncedo ekufumaneni iingxaki zokulinganisela.
Izifo ezininzi ezahlukeneyo (malunga ne-11, ezinokuthi zifumaneke ngaphezulu) zidibene ne-Usher syndrome. Ngamajelo amaninzi amaninzi afakwe kulo vavanyo oluthile lokuvavanya i-syndrome aluzange luncedo kakhulu ekuncedeni ukuxilongwa kwalo mqathango.
Unyango lwe-Usher Syndrome
Akukho naluphi unyango lwe-Usher syndrome. Nangona kunjalo, unako ukujolisa unyango lwe-Usher syndrome ukulawula iimpawu. Unyango lwempawu lunokusekelwe kwiintetho zakho kunye nokusebenzisana nodokotela wakho, kunye nohlobo lwe-Usher syndrome onayo. Iingcali ezahlukeneyo zezokwelapha kunye neentlobo zonyango zingabalulekile kwiindawo ezahlukeneyo ebomini bomntu kwaye zibandakanya i-audiologists, i- therapists , abathinteli beengcali, abasebenzi be-opthalmologists kunye nokunye. Ezi zonyango zilandelayo zinokuba luncedo ekulawuleni i-Usher syndrome.
Uhlobo I
Ukuncedwa kwezixhobo azivumi ukuba luncedo kulolu hlobo lwe-Usher syndrome. Izimpembelelo zeCochlear zikhethwa kunye kwaye zinokuphucula kakhulu umgangatho wobomi. Ukuxilongwa kwangaphambili kubalulekile ukwenzela ukuba ezinye iindlela zokunxibelelana ezifana noLwimi lweZandla lweMerika (ASL) zifundiswe. Ingqwalasela ekhethekileyo kufuneka isetyenziswe ekukhetheni uhlobo lokunxibelelana, umzekelo we-ASL awunakuba yinto enhle kubantu abanomdla obunzima.
Ukulungelelanisa kunye nokuvuselelwa kwe-vestibulare kunokunceda ekulawuleni iziphumo zendlebe yangaphakathi kuquka ukulahlekelwa kwe-balance okanye isisu. Utyando lweengxaki zombono luquka umyalelo we-braille, izixhobo zokuncedisa ngombono webusuku, okanye utyando lwe-cataract. Izilwanyana zenkonzo, (njengenja yenkcazo), kunokuncedisa kuxhomekeke kwiimeko.
Uhlobo II
Ukuncedwa kwezixhobo kunokuba luncedo kunye nezinye izilwanyana zonyango ezifana neziplantshi ze-cochlear. Olunye uphando lubonisa ukuba ukuxhaswa kwe-vitamin A kunokuba luncedo ekunciphiseni ukuqhubela phambili kwe-RP kwi-type II ne-III Usher syndrome. Nangona kunjalo, kufuneka uqhagamshelane nodokotela wakho ngaphambi kokuzama oku kwaye uqinisekise ukuba:
- abakhulelwe okanye ukucwangcisa ukukhulelwa, njengoko iqondo eliphezulu leVithamini A lingabangela ukukhubazeka kokuzalwa
- ungazongezeleli nge-beta carotene
- ungathathi ngaphezu kwe-15,000 IU
Uhlobo III
Udibaniso lwezonyango ezisetyenziswe ngohlobo I no-II ngokuxhomekeka kobunzima beempawu.
Uphando oluqhubekayo lwe-Usher syndrome luqhubeka kwaye unyango lwexesha elizayo luyafumaneka.
Imithombo:
Umbutho we-American Speech-Hearing Association. Ukuqonda i-Usher Syndrome. Kufumaneka: Ngo-Agasti 26, 2016 ukusuka http://www.asha.org/Articles/Understanding-Usher-Syndrome/
I-Reference Reference Home. Usher Syndrome. Kufumaneka: Agasti 26, 2016 ukusuka kwi-https: //ghr.nlm.nih.gov/condition/usher-syndrome
UKimberling, WJ & Lindenmuth, A. (2006). Usher Syndromes. Iimviwo zokuThula, 27 (3): 182-192.
Isiko seZiko lokuSwaba kunye nezinye iziNgxaki zoNxibelelwano. Usher Syndrome. Kufumaneka: Agasti 26, 2016 ukusuka kwi-https: //www.nidcd.nih.gov/health/usher-syndrome
I-National Organisation for Distress Disorders. Usher Syndrome. Kufumaneka: Ngo-Agasti 26, 2016 ukusuka kwi-http://rarediseases.org/rare-diseases/usher-syndrome/