Ukhathazekile yini ngokubona kwengane yakho encane? Ake sifunde ngeNorrie Disease.

Sizizwa sijabule kakhulu uma sibheka amehlo osana olusanda kuzalwa, akunjalo? Kodwa ngezinye izikhathi, singase sibe nokungabaza okuncane ukuthi kukhona okungahambi kahle ngalawo mehlo. Namuhla sizokhuluma ngesimo esingavamile esibizwa ngokuthi 'iNorrie Disease', esingathinta hhayi nje kuphela umbono wengane, kodwa nezinye izinto eziningi. Ungesabi uma uzwa lokhu, masikuqonde kalula.

Iyini iNorrie Disease? Kalula nje...

Isifo sikaNorris yisifo samehlo esibangelwa ufuzo . Kulokhu, ingxenye yeso lomntwana ebizwa ngokuthi i-retina, kanye nemithambo yegazi exhuma kuyo, ayikhuli kahle. Ubuwazi ukuthi i-retina iyingqimba encane ngemuva kwamehlo ethu esebenza njengefilimu ekhamera. Yilokhu okuthola ukukhanya nombala bese kuthumela imiyalezo ebuchosheni, okuyilapho sibona khona.

Kumntwana onesifo iNorris, i-retina ayikhuli kahle, ngakho ingasuka esweni. Lokhu kungabangela ukopha ngaphakathi kweso. Lokhu kubangela ukuthi i-retina ibe yi-fibrous futhi ingakwazi ukusebenza kahle. Ezimweni eziningi, lesi simo singabangela ukuthi umntwana abe yimpumputhe ngokuphelele ekuzalweni noma ezinyangeni ezimbalwa zokuqala zokuphila. Nakuba ezinye izingane zingabona ukukhanya ekuzalweni, iningi lazo lilahlekelwa umbono kwelinye iso noma zombili lapho zizalwa.

Into ebalulekile ukuthi lokhu kuguquka kwezakhi zofuzo okuthinta umbono kungathinta nezinye intuthuko yomzimba enganeni. Ngakho-ke, isifo sikaNorrie asigcini ngokulahlekelwa umbono.

Yiziphi ezinye izimpawu ezingabonakala esifweni sikaNorrie?

Ukulahlekelwa umbono uphawu oluyinhloko. Kodwa-ke, izingane ezinesifo sikaNorrie zingase zibhekane nalokhu okulandelayo:

• Ukukhubazeka kokuzwa: Isifo sikaNorris singathinta nokukhula kwendlebe yangaphakathi. Ngakho-ke, ukulahlekelwa ukuzwa okuncane kungase kuqale ebuntwaneni futhi kukhule kancane kancane. Ungase futhi uzwe ukukhala ezindlebeni (i-tinnitus). Abanye abantu bangase babe nokuzwa okunciphile kakhulu lapho beneminyaka engu-35.
• Izinguquko zokuziphatha: Lesi simo singathinta nokuziphatha kwengane. Isibonelo, isimo esibizwa ngokuthi ``Pseudobulbar affect'' (ubunzima bokulawula ukuhleka nokukhala) sibonakala cishe koyedwa kubantu abane abane-Norris syndrome.
• Ukubambezeleka kokukhula: Ezinye izinsana nezingane zingathatha isikhathi eside ukufinyelela izigaba zokukhula njengokuhlala phansi nokuhamba.
• Isifo se-Autism spectrum: Cishe umuntu oyedwa kwabane abane-Norris syndrome angabonisa izimpawu ze-autism.
• Izinkinga zokuquleka: Nakuba zingavamile njengezinye izimo, cishe umuntu oyedwa kwabayishumi angase abe nezinkinga zokuquleka.
• Isifo semithambo yegazi engaphandle:Abanye abantu bangase babe nezinkinga zokujikeleza kwegazi, njengezilonda zemithambo yegazi.

Okubalulekile: Akuzona zonke izingane ezizoba nazo zonke lezi zimpawu. Ngisho nezingane emndenini ofanayo zingase zibe nezimpawu ezihlukile. Ngakho-ke, ingane ngayinye idinga ukunakekelwa komuntu ngamunye.

Ivame kangakanani i-Norovirus? Ngubani oyitholayo?

Isifo iNorris siyisifo esingavamile kakhulu. Sithinta cishe umuntu oyedwa kwabayisigidi.

Lokhu kuthinta kakhulu abafana. Amantombazane awavamile ukuthinteka yilesi sifo. Ngisho noma kunjalo, izimpawu zincane kakhulu. Akuyona into eqondile kunoma yiluphi uhlanga noma uhlanga.

Yiziphi izimpawu udokotela azibonayo esifweni sikaNorrie?

Ngesikhathi sokuhlolwa kwamehlo, udokotela wamehlo angabona izimpawu eziningana ezihlobene nesifo iNori. Lezi zimpawu zifaka:

• Inqwaba ephuzi-grey ngemuva kweso (i-Pseudoglioma). Lokhu kubangelwa i-retina engakathuthuki kahle.
• Ukuhlukaniswa kwe-retinal.
• Ukumhlophe kwe-cornea yeso (i-Leukocoria).
• Indandatho emnyama esweni isikhulile.
• I-Iris hypoplasia iwukungathuthuki kahle kwe-iris.
• I-cataract inamathele ku-lens noma ku-cornea.
• Amehlo amancane kunosayizi ojwayelekile (i-Microphthalmia).
• Ukwanda kwengcindezi yangaphakathi kwamehlo. Lokhu kungabangela ubuhlungu bamehlo.
• Ukopha kwegazi emzimbeni.
• Ukufiphala kwelensi yeso (i-cataract).
• Ukushwabana kweso ngaphandle kokubona `(Phthisis bulbi)`.

Akuzona zonke lezi zimpawu ezibonakala ngesikhathi esisodwa. Ezinye zingase zibonakale ekuzalweni, kanti ezinye zingase zibonakale ezinyangeni noma ngisho neminyaka kamuva.

Yiziphi izimpawu ingane ebhekana nazo?

Izimpawu zesifo sikaNorris zingahluka kakhulu kuye ngohlobo lwesifo. Ubuhlungu bamehlo buyisibonakaliso esivamile kwezinye izingane ngenxa yokucindezela okukhulu ngaphakathi kweso, kodwa lokhu akuvamile kakhulu. Ngezinye izikhathi, ukufakwa kwe-calcium ku-cornea yeso (i-band keratopathy) kungabangela ubuhlungu nokungakhululeki. Udokotela wamehlo wengane yakho uzohlola njalo ukucindezeleka emehlweni ayo.

Ezinye izimpawu zingase zihlobane nokulahlekelwa ukuzwa nezinye izimo ezihlobene. Khuluma nethimba lezokwelapha lengane yakho ukuze uthole ukuthi yiziphi izimpawu okufanele ukhathazeke ngazo.

Yini ebangela isifo iNorrie?

Isifo sikaNorris sibangelwa ukuguquka kwezakhi zofuzo . Izakhi zofuzo ezithile ezithinta lokhu yizakhi zofuzo ze-NDP. Le zakhi zofuzo ze-NDP ziyala umzimba wethu ukuthi wenze iphrotheni ebizwa ngokuthi i-Norrin. Le phrotheni ye-Norrin ibaluleke kakhulu ekuboniseni amaseli kanye nokukhethekile kwamaseli. Ikakhulukazi, i-Norrin isiza i-retina yethu ukuthi ikhule kahle. Iphinde isize ekwakhekeni kwemithambo yegazi ehlinzeka ngegazi ku-retina kanye nezingxenye zendlebe (i-Angiogenesis).

Uma kukhona ukuguquka kwezakhi zofuzo ze-`NDP`, iphrotheni ye-Norrin ayisebenzi kahle. Ukuguquka kwezakhi zofuzo okunjalo kungabangela izifo ezahlukahlukene zamehlo ezihambisana nofuzo. Isifo se-Norrin yisona esibi kakhulu kuzo.

Isifo sikaNorrie sizuzwa kanjani njengefa?

Lesi sakhi sofuzo esishintshiwe se-'NDP' sitholakala ku-chromosome X. Njengoba wazi, u-X no-Y bangama-chromosome amabili obulili. Kunezindlela ezahlukene zokuthola izifo ezidluliselwa ngefa. Isifo sikaNorrie sizuzwa njengefa ngephethini yokubuyisa exhumene ne-X .

Lezi zimo ezizuzwe njengefa zivame ukuthinta abafana. Amantombazane awathinteki kakhulu. Lokhu kungenxa yokuthi abafana bane-chromosome eyodwa kuphela engu-X. Ngakho-ke, kungenzeka ukuthi bazuze i-gene eyodwa eshintshiwe ebangela lesi sifo.

Uma umama engumthwali walesi sakhi sofuzo esishintshiwe (okusho ukuthi unalesi sakhi sofuzo kwenye yama-chromosome akhe amabili e-X, kodwa engenazo izimpawu, ngoba konke kusebenza kahle ngenxa yesakhi sofuzo esinempilo kwenye i-chromosome ye-X), kunethuba elingu-50% lokuthi noma yimuphi umntwana wesilisa amzalayo uzozuza njengefa isifo sikaNorrie. Ingane yesilisa ayilitholi lesi sifo njengefa kubaba.

Isifo sikaNorrie sitholakala kanjani?

Udokotela wamehlo uxilonga isifo saseNorwich kanje:

• Ngokwenza ukuhlolwa kwamehlo okuphelele nokuhlolwa ngokomzimba .
• Ngokwazi umlando wezokwelapha womndeni wengane yakho.
• Ngoku-oda ukuhlolwa kwezakhi zofuzo .

Odokotela bamehlo kumele bahlukanise futhi baxilonge isifo sikaNori kwezinye izimo ezinezimpawu ezifanayo, njenge:

• `I-Retinoblastoma` (isimila somdlavuza esikhula ku-retina)
• `I-retinopathy yokukhula ngaphambi kwesikhathi` (ukukhula okungalungile kwemithambo yegazi ehambisa igazi ku-retina ezinganeni ezizalwa ngaphambi kwesikhathi)
• "Imithambo yegazi yengane engapheli"
• `Isifo sama-Coats`

Kunezinye izifo ze-vitreoretinopathy ezingathinteki kakhulu, ezingaxhunyanisiwe ne-X (`(Familial exudative vitreoretinopathies)`) ezihlobene nesifo sikaNorrie.

Ngezinye izikhathi, kungatholakala ngesikhathi sokukhulelwa ngokuhlolwa okufana nokuthi ``Amniocentesis``. Lokhu kwenzeka uma othile emndenini eke waba nesifo sikaNorrie, noma uma umama waziwa ukuthi ungumthwali we-``NDP``` gene mutation.

Yiziphi izindlela zokwelapha isifo iNorrie?

Izinsana ezinesifo sikaNorrie zidinga ukwelashwa okwenzelwe izidingo zazo zomuntu ngamunye. Izindlela zokwelapha zingafaka:

• Ukuhlinzwa: Ukuhlinzwa kwenziwa ukuze kuqondiswe izimo ezithile, njenge-cataracts. Lokhu kungasiza ekuvimbeleni amehlo engane ukuthi anciphe futhi kunciphise ubuhlungu. Kodwa-ke, ukubona akukwazi ukubuyiselwa. Akuvamile, izingane zizalwa zine-retina ehlukanisiwe futhi zingabona ukukhanya okuthile. Ezimweni ezinjalo, ukuhlinzwa kungasiza ekulondolozeni lelo khono.
• Izinsiza zokuzwa: Lezi zisiza izingane, intsha kanye nabantu asebekhulile ukuzwa imisindo kangcono. Zibaluleke kakhulu kumuntu onenkinga yokuzwa ukuze axhumane nomhlaba.
• Ukufakelwa kwe-Cochlear: Lokhu kukusiza ukuthi uzwe amagama neminye imisindo ngokucacile.

Njengoba ingane yakho ikhula, izodinga ukunakekelwa okuqhubekayo kanye nokubhekwa. Lokhu kuzodinga ithimba lochwepheshe abahlukene:

• Odokotela bezingane
• Izazi zezakhi zofuzo
• Odokotela bamehlo
• Odokotela bezindlebe
• Abelaphi benkulumo

Ingane yakho ingase izuze nasezinkonzweni zokusekela ezemfundo. Kubalulekile ukukhuluma nabaphathi besikole sengane yakho ukuze uthole ukuthi yiziphi izinsiza ezitholakalayo.

Liyini ikusasa labantu abanesifo iNorrie?

Iningi labantu abanesifo iNorris liba yizimpumputhe ngokuphelele (abakwazi ukubona noma yikuphi ukukhanya) ezinyangeni zokuqala ezingu-12 zokuphila. Cishe umuntu oyedwa kwabahlanu angabona ukukhanya ngemva kweminyaka engu-3.

Ikusasa lesikhathi eside lengane yakho lincike ezintweni eziningi, okuhlanganisa ukuthi yiziphi izimpawu zesifo ezithinta ingane yakho nokuthi zimbi kangakanani. Ithimba lezokwelapha lengane yakho lingumthombo ongcono kakhulu wolwazi mayelana nokuthi isifo saseNorwich sithinta kanjani ingane yakho nokuthi ungabasiza kanjani bazizwe bengcono.

Ingabe i-Norovirus ingavinjelwa?

I-Norovirus ayinakuvinjelwa. Uma othile emndenini wakho ene-Norovirus noma ezinye izifo zamehlo ezizalwa nazo, kungumqondo omuhle ukucabangela ukwelulekwa ngofuzo ngaphambi kokukhulelwa. Umeluleki wezakhi zofuzo angancoma ukuhlolwa kofuzo ukuze athole ukuthi ungumthwali wokuguqulwa kwezakhi zofuzo ze-NDP. Lokhu kuguqulwa kungabangela ingane yakho ukuba ibe nezifo zamehlo ezahlukahlukene zofuzo, okuhlanganisa ne-Norovirus.

Ngingayinakekela kanjani ingane yami?

Ithimba lezokwelapha lengane yakho lizokutshela ukuthi ungayinakekela kanjani ingane yakho ekhaya. Izidingo zengane ngayinye ziyahlukahluka kuye ngeminyaka yayo kanye nezimpawu zayo. Ngezansi kunezeluleko ezijwayelekile ezingasiza ingane yakho ukuthi ifinyelele amandla ayo aphelele.

Qiniseka ukuthi uyayiyisa ingane yakho kudokotela.

Ingane yakho izoba nama-aphoyintimenti amaningi nochwepheshe abahlukene. La ma-aphoyintimenti abalulekile ukuqinisekisa ukuthi ingane yakho ithola ukunakekelwa okufanela izidingo zayo.

• Ukuhlolwa kwamehlo kwaminyaka yonke: Ngisho noma ingane yakho ilahlekelwe ukubona konke, kubalulekile ukubona udokotela wamehlo kanye ngonyaka. Lokhu kuzosiza ingane yakho ukuthi ibone ukuthi kukhona yini izinkinga ezibangela ubuhlungu bamehlo futhi kuphakamise ukwelashwa uma kudingeka.
• Ukuhlolwa kwendlebe njalo ezinyangeni eziyi-6 kuya kweziyi-12: Ngokuqapha njalo ukuzwa kwengane yakho, ungathola ukwelashwa uma kudingeka. Udokotela wezindlebe angathola ukulahlekelwa ukuzwa ngaphambi kokuba kuvele izimpawu.
• Ukuhlangana okusiza kwezinye izindawo zokukhula: Ingane ingadinga ukuhlangana nabantu abafana nabelaphi bezenkulumo, izisebenzi zezenhlalakahle kanye nososayensi bezengqondo.
• Ama-aphoyintimenti kadokotela wezingane: Kufanele ubonane nodokotela wezingane njalo ukuze ahlole impilo yengane yakho iyonke.

Okubalulekile: Kubaluleke kakhulu ukuthi bonke odokotela bengane yakho basebenzisane futhi babelane ngolwazi.

Siza ekuphatheni impilo yansuku zonke yengane

Isifo saseNorwich singaletha izinselele eziningi empilweni yansuku zonke yengane.

• Ukulala nokuvuka ngezikhathi ezijwayelekile: Izingane ezinesifo se-celiac zingase zibe nobunzima bokulala kahle ebusuku. Lokhu kungazenza zizizwe zikhathele emini, zicasuke, futhi zibe nenkinga yokugxila emsebenzini wesikole. Uma ingane yakho inenkinga yokulala, khuluma nodokotela wezingane ngezindlela zokusiza.
• Ukuxhumana nabantu: Njengoba ukulahlekelwa ukuzwa kwengane yakho kuya kuba kubi, kungaba yinselele ukudlala nezinye izingane nokuxhumana nomhlaba. Lokhu kubonakala kakhulu esemncane. Ingane ingase izizwe ihlukanisiwe futhi ingabonisa izimpawu zokucindezeleka. Ungasiza ingane yakho ngokuhlela imisebenzi yokuxhumana nabantu ezindaweni ezithule ezinomsindo omncane wangemuva.
• Ukunakekelwa kwezinsiza zokuzwa: Lezi ziyingxenye ebalulekile yokwelashwa. Kodwa-ke, izingane zingalahlekelwa noma ziphule. Ukunakekela imishini yezokwelapha ekhethekile akulula kunoma yimuphi umntwana. Ukulahlekelwa ukuzwa kunganezela kule nselele. Ngangokunokwenzeka, fundisa ingane yakho ukunakekela izinsiza zayo zokuzwa futhi uyitshele ukuthi ikutshele ngokushesha uma kwenzeka okuthile.

Zinakekele nawe.

Ingane yakho iyakudinga, ngakho-ke kubalulekile ukuthi uzinakekele. Kuvamile ukuthi abazali nabanakekeli bazizwe bekhungathekile futhi bekhathele. Nakuba kungekho ikhambi elilula kulokhu, ukuvuma ukuthi uzizwa kanjani kuyisinyathelo sokuqala sokuthola izixazululo.

• Khuluma nodokotela wakho ngendlela ozizwa ngayo.
• Joyina iqembu lokusekelana. Lokhu kungakusiza ukuthi uxhumane nabazali abasesimweni esifana nesakho.
• Cela usizo. Unganqikazi ukucela usizo ezihlotsheni, kubangani, nakomakhelwane.

Amanye amagama esifo saseNorwich

Amanye amagama alesi simo yilawa:

• I-"Anderson-Warburg syndrome"
• I-Whitnall-Norman syndrome
• "Ukuwohloka kobuchopho okuqhubekela phambili kokuzalwa kwe-oculo-acoustico"
• `I-Oligophrenia microphthalmos`
• `I-pseudoglioma yokuzalwa`

Okokugcina, okufanele ukukhumbule

Isifo iNorris yisimo esiyinkimbinkimbi esithinta wonke umuntu ngendlela ehlukile. Lokho kusho ukuthi kungaba nzima ukwazi kahle ukuthi yini okufanele uyilindele lapho ingane yakho itholakala inaso. Ukuhlanganisa ithimba lezokwelapha ukusekela ingane yakho kungakusiza ukuthi uthathe isinyathelo esisodwa phambili. Buza imibuzo ukuze uthole ulwazi oludingayo, futhi ungangabazi ukuveza ukukhathazeka kwakho. Awuwedwa.

Isifo sikaNorrie , Isifo Samehlo Esibangelwa Yizakhi Zofuzo, Ukubona Kwengane, Ubumpumputhe, Ukukhubazeka Kokuzwa, Ukubambezeleka Kokukhula, Ukwelulekwa Ngezakhi Zofuzo