Usher syndrome inogona kuva chikonzero nei mumwe waunoziva ari matsi uye ari bofu
Usher syndrome chirwere chinowanzokonzera maonero uye kurasikirwa kwekunzwa . Izvi zvinokonzerwa nehutachiona zvinotorwa sezvokuzvidzivirira, izvo zvinoreva kuti vabereki vose vanofanira kupfuudza muitiro wekuti mwana wenyu aberekwe ane chirwere ichi. Mune mamwe mazwi, vose vabereki vane chirwere kana vane vatakuri (vane mubereki 1 akapfuura pamamiriro acho, asi anoramba akamira) wehutano.
Kunyange zvazvo isingawanzoiti, inongoitika chete munenge 4 kusvika ku5 kune 100 000 vanhu, inonzi inonyanya kukonzera kukonzera bofu uye matsi, uye inokwana anenge 50 muzana yematambudziko aya. Kune zvitatu zvakasiyana siyana zve Usher syndrome. Ita I & II ndeyokutambudzika nemafomu akawandisa zvikuru. Rudzi rwechitatu, iro rune simba zvikuru rwemarudzi akasiyana eUsher syndrome, rinongokonzerwa nematambudziko maviri kubva kune zana kunze kwekuti iwe uri wekuFinland, uye inogona kuverengera yakakwirira se40 muzana yematambudziko.
Genetic Mutations
Usher syndrome inonzi inofanirwa kuberekwa, izvo zvinoreva kuti chirwere ichi chinokonzerwa neDNA panguva yekuvandudza. Kunyange kana Usher syndrome isingaratidzi kusvikira mushure mehupenyu, ichiri kubatana nekukura asati aberekwa. Pane 11 dzinozivikanwa kuchinja muDNA majena anokonzera mapuroteni anogona kukonzera Usher syndrome. Zvisinei, kuchinja kunowanzoitika ndeikuti:
- MYO7A - Type I
- CDH23 - Rudzi I
- USH2A - Type II
- CLRN1 - Type III
Nyaya yezvinetso zvinosanganiswa nemararamiro emagetsi zvakabatana nemapurotini anodikanwa pakugadzirwa kwemasero matsvuku emakwenzi ako mukati mako (cilia), uyewo tsvimbo uye cone photoreceptors mumaziso ako. Pasina kukodzera cilia (iyo iri mukati mako, nzeve uye manzwiro ekunzwa zvichange zvisisina kunaka.
Tsvimbo ye photoreceptors inononoka kukubvumira kuti ugare apo pane chiedza chiduku chiripo. I-cone photoreceptors inokubvumira kuti uone mavara uye mukati apo chiedza chikapenya.
Zviratidzo zve Usher Syndrome
Zviratidzo zvikuru zve Usher syndrome zvinonzwa kurasikirwa kwekunzwa uye fomu yekuona kurasikirwa kunonzi retinitis pigmentosa (RP). Retinitis pigmentosa inoratidzwa nekurasikirwa kwemausiku kuteverwa nemapofu anoona iyo inobata maonero ekunze. Izvi zvingaguma zvichitungamirira kumugwagwa kuratidzwa uye kukura kwehutachiona. Zviratidzo zvinosiyana zvichienderana nerudzi rweUsher syndrome munhu ane.
Tora I
- kazhinji zvakakwana kana zvakawanda matsi munzeve mbiri kubva panguva yekuzvarwa
- kuenzanisa matambudziko - izvo zvinowanzotungamirira kunonoka mumagetsi kukurudzira (kugara, kufamba, etc.)
- RP-vision zvinetso zvinotanga kukura nezera remakore gumi 10 uye kufambira mberi nekukurumidza kusvikira hupofu hunoitika
Type II
- anoberekwa ane mwero kusvika kune matsi
- akaberekerwa nekuenzana
- RP - kurasikirwa kwezviratidzo kunoenderera mberi zvishoma nezvishoma kupfuura rudzi I
Type III
- kunzwa kwakanaka pakuberekwa
- kurasikirwa kwekunzwa kunogona kukura gare gare muupenyu
- kazhinji kana kuti pedyo nekuenzanisa kwakakwana pakuzvarwa
- inogona kukura matambudziko akaenzana gare gare muupenyu
- kazhinji kuve nezvinetso zvekuona pane imwe nguva - kuoma kwakasiyana pakati pevanhu
Kuongorora Usher Syndrome
Kana iwe uine kusanganiswa kwekurasikirwa kwekunzwa, kurasikirwa kworatidzwa, uye kana kuenzanisa zvinetso chiremba wako angakanganwa Usher syndrome. Miedzo yakasiyana-siyana yekuonekwa inosanganisira kuongorora maziso, masvomho ekudzorera, uye electroretinogram (ERG) inobatsira pakutsvaga Usher syndrome pamwe nekuedza kuongorora. An electronystagmogram (ENG) inogona kubatsira pakutsvaga matambudziko ekuenzanisa.
Majini mazhinji akasiyana-siyana (anenge 11, ane simba rekuwedzerwa kuwanikwa) ave akabatanidzwa neUsher syndrome. Iine majini akawanda akabatanidzwa mune iyi chaiyo syndrome genetic test haisati yakanyanya kubatsira pakubatsira nekutaridzirwa kwechiitiko chacho.
Mushonga we Usher Syndrome
Hakuchina mushonga we Usher syndrome. Zvisinei, unokwanisa kuronga mushonga we Usher syndrome kuti utarisire zviratidzo. Kurapa kwezviratidzo kunogona kubva pane zvaunofarira pamwe nekubatana kwechiremba wako, uye rudzi rweUsher syndrome une. Zvimwe zvakasiyana-siyana zvezvechiremba uye mhando dzemishonga inogona kunge yakakosha pane dzimwe nzvimbo muhupenyu hwomumwe nomumwe uye inogona kusanganisira vatorikiri vekutaura, kutaura kwemarepist, masayendisiti epanyama uye mashizha, opthalmologists nezvimwewo. Mishonga inotevera inogona kubatsira pakugadzirisa Usher syndrome.
Tora I
Kunzwa rubatsiro kazhinji hakubatsiri mumhando iyi yeUsher syndrome. Cochlear implants inogona kunge iri sarudzo uye inogona kuchinja zvikuru hupenyu hwehupenyu. Kuongorora chirwere chekutanga kunokosha kuitira kuti mamwe maitiro ekukurukurirana akaita seAmerican Sign Language (ASL) anogona kudzidziswa. Kunyatsofungisisa kunofanira kushandiswa pakusarudza imwe nzira yekukurukurirana, ASL somuenzaniso ingave isingasarudzo yakanaka kune vanhu vane maonero akaipa ekurasikirwa.
Kuenzanisa uye kugadziriswa kwemaziso kunogona kubatsira pakugadzirisa zvinokonzerwa nenzeve yomukati kusanganisira kurasikirwa kwehutano kana chizuru. Kurapa kwezvinetso zvekuona kunogona kusanganisira mirayiridzo yebraille, zvigadziro zvekubatsira nemaonero ekusiku, kana chirwere checataract. Mhuka dzebasa, (sekuita imbwa inotungamirira), inogonawo kubatsira zvichienderana nemamiriro ezvinhu.
Type II
Kunzwa rubatsiro kunogona kubatsirana pamwe nemamwe mishonga yemapurogiramu akadai seyakakosha. Imwe tsvakurudzo inoratidza kuti vitamini A supplementation inogona kubatsira mukuderedza kufambira mberi kwe RP mumutambo II uye III Usher syndrome. Zvisinei, unofanirwa kubvunza chiremba wako usati waedza izvi uye uone kuti iwe:
- havasi pamuviri kana kuronga kubata pamuviri, sezvo kuwedzera kweVitamin A kunogona kukonzera kukanganisa kuberekwa
- usawedzera pamwe ne beta carotene
- usatora zvinopfuura 15,000 IU
Type III
Kusanganiswa kwemishonga inoshandiswa muchimiro I uye II zvichienderana nekuoma kwezviratidzo.
Kutsvakurudza kuripo kweUsher syndrome kunoenderera mberi uye marapirwo emangwana anogona kuwanikwa.
Sources:
American Speech-Mutauro-Kunzwa Sangano. Kunzwisisa Usher Syndrome. Yakasvika: August 26, 2016 kubva pa http://www.asha.org/Articles/Understanding-Usher-Syndrome/
Genetics Home Reference. Usher Syndrome. Yakasvika: August 26, 2016 kubva ku https://ghr.nlm.nih.gov/condition/usher-syndrome
Kimberling, WJ & Lindenmuth, A. (2006). Usher Syndromes. Seminari Mukunzwa, 27 (3): 182-192.
National Institute of Deafness & Other Communication Disorders. Usher Syndrome. Yakasvika: August 26, 2016 kubva ku https://www.nidcd.nih.gov/health/usher-syndrome
National Organisation for Rare Disorders. Usher Syndrome. Yakasvika: August 26, 2016 kubva pa http://rarediseases.org/rare-diseases/usher-syndrome/