Ingabe kukhona umehluko emehlweni engane yakho encane? Ingabe kungaba yi-Axenfeld-Rieger Syndrome?

Injabulo oyizwayo uma ubheka umntwana osanda kuzalwa ayichazeki, akunjalo? Kodwa ngezinye izikhathi, kuyinto evamile ukuzizwa wesaba kancane uma ubona umehluko kulawo mehlo amancane, noma kwezinye izinto ezincane. Yingakho kubalulekile ukuqaphela ezinye izimo ezingavamile.

Iyini i-Axenfeld-Rieger syndrome?

Kulungile, ake sixoxe nge-Axenfeld-Rieger syndrome. Kalula nje, lesi yisimo esingavamile kakhulu sezakhi zofuzo . Okusho ukuthi, sibangelwa ukuguquka kwezakhi zofuzo zengane. Sithinta kakhulu amehlo ezingane. Kodwa-ke, ngezinye izikhathi singathinta ukukhula kwezinye izingxenye zomzimba ngaphandle kwamehlo. Esikhathini esidlule, lokhu kwakuthiwa yi-Axenfeld anomaly.

Odokotela bavame ukuxilonga lesi simo lapho umntwana ezalwa noma lapho izimpawu ziqala ukuvela. Sibangelwa ushintsho ku-genes yengane yakho, noma ukulandelana kwe-DNA. Kuye ngokuthi i-Axenfeld-Rieger syndrome ithinta kanjani amehlo engane, umbono ungathinteka. Futhi, ezinye izinkinga zamehlo zingavela ngokuhamba kwesikhathi. Lesi simo sivame ukuthinta womabili amehlo. Okubalulekile, izingane ezingaphezu kwengxenye ezine-Axenfeld-Rieger syndrome zizoba nesifo samehlo esibizwa ngokuthi i-glaucoma ngesikhathi esithile empilweni yazo.

Uhlobo lokwelashwa ingane yakho oludingayo luzoncika ezimpawini ze-Axenfeld-Rieger syndrome nokuthi zimbi kangakanani. Njengoba ingane yakho ikhula, izodinga ukuhlolwa kwamehlo njalo ukuze kuqashwe izinguquko emehlweni ayo. Uchwepheshe wakho wokunakekelwa kwamehlo noma udokotela wengane yakho uzokutshela ukuthi kufanele uhlolwe kangaki.

Uyini umehluko phakathi kwe-Axenfeld-Rieger syndrome kanye ne-Aniridia?

Manje ungase uzibuze ukuthi umehluko uyini phakathi kwe-Axenfeld-Rieger syndrome kanye nesinye isimo samehlo esibizwa ngokuthi i-Aniridia. Zombili ziyizimo zokuzalwa , okusho ukuthi zikhona lapho kuzalwa, futhi zombili zithinta amehlo engane.

Kalula nje, i-Aniridia iwukungabikho kwengxenye enombala yeso, i-iris. Ezinye izingane zingase zilahlekelwe yileli iris ngokuphelele, kanti ezinye zingase zilahlekelwe ingxenye ethile.

Kodwa-ke, i-Axenfeld-Rieger syndrome ithinta kakhulu igumbi elingaphambili leso. Futhi, ithinta okungaphezu nje kwelensi. Njengoba kushiwo ngaphambili, ingathinta nokukhula kwezinye izingxenye zomzimba. Zombili lezi zimo zivame ukutholakala lapho kuzalwa. Uma ubona noma yiziphi izinguquko emehlweni noma ekuboneni kwengane yakho, qiniseka ukuthi ubona uchwepheshe wamehlo.

Sivame kangakanani lesi simo?

I-Axenfeld-Rieger syndrome iyisimo esingavamile kakhulu. Sithinta cishe ingane eyodwa kwezingu-200,000 ezizalwa minyaka yonke. Abantu abaningi kungenzeka abakaze bezwe ngayo.

Ziyini izimpawu ze-Axenfeld-Rieger syndrome?

Izimpawu ze-Axenfeld-Rieger syndrome zingahlukaniswa ngezigaba ezimbili eziyinhloko:

• Izimpawu zamehlo: Izimpawu ezithinta amehlo engane yakho.
• Izimpawu zesistimu: Izimpawu ezenzeka ngokuthuthukiswa kwenye indawo emzimbeni wengane.

Izimpawu zamehlo

Okokuqala, ake sibone ukuthi yiziphi izici ezingabonakala ezihlobene namehlo:

• Ama-iris amancane noma angakakhuli kahle: Ingxenye enombala yeso ingase ingakakhuli ngokugcwele.
• Abafundi abangagxilile: Ingxenye emnyama ephakathi kweso, ebizwa ngokuthi umfundi, ingase ingabi phakathi nendawo kancane.
• Izinkinga ngengxenye esobala yangaphambili yeso (i-cornea): Izinkinga ezithile zingavela nge-cornea, okuyingaphambili leso.

Ngenxa ye-Axenfeld-Rieger syndrome, ingane yakho inamathuba amaningi okuthola ezinye izifo zamehlo eziningana. Eziyinhloko yilezi:

• I-Glaucoma: Lokhu kuvame kakhulu.
• Ama-Cataract: Ama-Cataract .
• I-Coloboma: Ukulahlekelwa yingxenye yeso.
• Ukuwohloka kwe-macular: Ukulimala engxenyeni ye-retina.
• I-Strabismus (amehlo ahlanganisiwe): Ukuwela kwamehlo.

Izimpawu zesistimu ezithinta ezinye izingxenye zomzimba

Manje ake sibheke izimpawu ezithinta ezinye izingxenye zomzimba. Lezi azivamile njengezimpawu ezithinta amehlo. Kodwa-ke, uma ingane yakho inalezi zimpawu, zingaba:

• Izinkinga zekhanda:
• I-Hypertelorism: Amehlo abanzi kanye nobuso obuyisicaba.
• Ngezinye izikhathi ibunzi lomntwana lingase libe banzi ngendlela engavamile futhi liphumele phambili.
• Izimpawu zamazinyo:
• Izingane ezine-Axenfeld-Rieger syndrome ngezinye izikhathi zizalwa zinamazinyo amancane ngendlela engavamile.
• Amanye amazinyo angase angabi khona.
• Isikhumba esengeziwe:
• Kungase kuvele imibimbi yesikhumba eyengeziwe esiswini somntwana, eduze kwenkinobho yesisu .
• Kwabafana, ngezinye izikhathi ungabona isikhumba esengeziwe ngaphansi kwepenisi.
• Izikhala ezincane ze-urethra noma ze-anal.
• Ukukhubazeka kwenhliziyo: Ngezinye izikhathi ukukhubazeka kwenhliziyo okubangelwa ukuzalwa nakho kungenzeka.
• Izinkinga ze-pituitary gland: Izingane ezine-Axenfeld-Rieger syndrome ngezinye izikhathi zingaba nokulibaziseka kokukhula. Lokhu kusho ukuthi zithatha isikhathi eside ukukhula kunezinye izingane.

Yini ebangela i-Axenfeld-Rieger syndrome?

I-Axenfeld-Rieger syndrome iyisifo sofuzo . Okusho ukuthi, sizuzwa kubazali kubantwana. Odokotela basibiza nangokuthi yisimo sokuzalwa. Sibangelwa kakhulu izinguquko ezakhiweni ze-FOXC1 kanye ne-PITX2. Lezi zakhi zofuzo ezimbili ngokuvamile zisiza ukulawula ukukhula komntwana, ikakhulukazi ukukhula kwamehlo, ngesikhathi sombungu.

I-Axenfeld-Rieger syndrome iyisimo sezakhi zofuzo esibizwa ngokuthi yi-autosomal dominant genetic condition. Kalula nje, lokhu kusho ukuthi ingane kumele ithole ifa lezakhi zofuzo elinokuguqulwa kwalesi sakhiwo kumzali oyedwa kuphela ukuze ibe nalesi simo. Kodwa-ke, lokhu akusho ukuthi uma unalolu guquko kuzakhi zofuzo zakho, ingane yakho ngokuqinisekile izoba ne-Axenfeld-Rieger syndrome. Kodwa-ke, kunethuba elingu-50% lokuthi lokhu kuzokwenzeka. Ukuze ufunde kabanzi ngalokhu, khuluma nodokotela wakho mayelana nokuthola ukwelulekwa kwezakhi zofuzo.

I-Axenfeld-Rieger syndrome itholakala kanjani? (Ukuxilongwa)

Udokotela wakho noma udokotela wamehlo nguye ozoxilonga ingane yakho ukuthi ine-Axenfeld-Rieger syndrome. Njengoba kushiwo ngaphambili, uma ingane yakho inezinkinga ezisobala ngamehlo ayo noma ezinye izingxenye zomzimba wayo lapho izalwa, ingase ixilongwe lapho izalwa. Ngaphandle kwalokho, ingase ixilongwe ngemva kokuba ingane isiqalile ukubonisa izimpawu.

Udokotela wamehlo uzokwenza ukuhlolwa kwamehlo okuphelele ukuhlola amehlo engane (kufaka phakathi nengaphakathi). Kungenziwa izivivinyo eziningana ukuze kutholakale i-Axenfeld-Rieger syndrome, okuhlanganisa:

• Ukuhlolwa kokubona kahle: Hlola ukuthi ukubona kwengane kuthintekile yini.
• I-Gonioscopy: Hlola i-glaucoma.
• Ukuhlolwa kwe-DNA kanye nokuhlolwa kwezakhi zofuzo: Hlola ukuthi ingane inalo yini ushintsho lwezakhi zofuzo olubangela i-Axenfeld-Rieger syndrome.

Yiziphi izindlela zokwelapha i-Axenfeld-Rieger syndrome?

Ukwelashwa kwe-Axenfeld-Rieger syndrome kuncike ekutheni izimpawu zengane yakho zikuphi nokuthi yiziphi izinkinga ezibangela. Khuluma nodokotela wakho noma udokotela wamehlo mayelana nokuthi yiziphi izindlela zokwelapha ingane yakho ezidingayo nokuthi kufanele ihlolwe kangaki ukuze iqaphe izinguquko emehlweni nasemzimbeni wayo.

Ukwelashwa kwe-Glaucoma

Izingane ezine-Axenfeld-Rieger syndrome zisengozini enkulu yokuthola i-glaucoma, futhi zingase zidinge ukwelashwa ngayo ngesikhathi esithile empilweni yazo.

I-Glaucoma igama elijwayelekile leqembu lezifo zamehlo ezilimaza inzwa ye-optic. Uma ingelashwa ngokushesha, i-glaucoma ingaholela ebumpumputheni obuhlala njalo. Ezimweni eziningi, uketshezi luyanqwabelana ngaphambili kweso. Lolu ketshezi olwengeziwe lubangela ukucindezeleka ngaphakathi kweso (ukucindezeleka kwangaphakathi kweso - i-IOP, noma ukucindezeleka kwamehlo), okulimaza kancane kancane inzwa ye-optic.

Izindlela zokwelapha eziyinhloko ze-glaucoma yilezi:

• Amaconsi amehlo anemithi.
• Ukwelashwa nge-laser: Susa uketshezi esweni.
• Ukuhlinzwa: Nciphisa ingcindezi.

I-Glaucoma ingelashwa ukulawula ukulahleka kokubona okwengeziwe. Kodwa-ke, ukulahlekelwa umbono akukwazi ukubuyiselwa. Ngakho-ke, uma ingane yakho inezimpawu ze-glaucoma, kubaluleke kakhulu ukubona uchwepheshe wamehlo ngokushesha:

• Ubuhlungu bamehlo.
• Ubuhlungu bekhanda obukhulu.
• Izinkinga zokubona.

Ingabe i-Axenfeld-Rieger syndrome ingavinjelwa?

Uma ingane yakho izuza ifa lokuguquka kwezakhi zofuzo okubangela lokhu, akunakwenzeka ukuvimbela i-Axenfeld-Rieger syndrome. Uma ukhathazekile ngengozi yokuthi izingane zakho zizuze isimo sofuzo, khuluma nodokotela wakho. Ungathunyelwa futhi ukuze uthole ukwelulekwa kwezakhi zofuzo.

Uma ingane yami ine-Axenfeld-Rieger syndrome, yini okufanele ngiyilindele?

Akuzona zonke izimo ze-Axenfeld-Rieger syndrome ezifanayo. Ukuthi izothinta kangakanani impilo yengane kuncike ekutheni izimpawu zikuphi nokuthi yiziphi izinkinga ezibangela. Khuluma nodokotela wakho noma udokotela wamehlo ngalokho okufanele ukuqaphele njengoba ingane yakho ikhula.Uma ubona izimpawu ezintsha, kungcono ukuthi uzihlole ngokushesha okukhulu.

Kufanele ngimbone nini udokotela?

Bonana nodokotela ngokushesha nje lapho ubona noma yiziphi izinguquko emehlweni noma embonweni wengane yakho.

Nini ukuya ekamelweni lezimo eziphuthumayo:

• Ukulahlekelwa umbono ngokuzumayo.
• Ubuhlungu obukhulu bamehlo.
• Babona ukukhanya okusha noma ukuntanta emehlweni abo. Lezi yizibonakaliso ezibaluleke kakhulu zesixwayiso.

Yimiphi imibuzo okufanele ngiyibuze udokotela/udokotela?

Uma uya kudokotela noma umhlengikazi, ungakhohlwa ukubuza imibuzo efana nale:

• Ingabe kufanele ngithole ukuhlolwa kwe-DNA ukuqinisekisa ukuthi ingane yami ine-Axenfeld-Rieger syndrome?
• Kukuphi lapho angaba nezimpawu khona? (Ingabe kusemehlweni kuphela, noma nakwezinye izingxenye zomzimba?)
• Hlobo luni lokwelashwa aludingayo?
• Yiziphi izinguquko emehlweni noma emzimbeni wakhe okufanele ngiziqaphele ngokukhethekile?

Umlayezo Wokuya Nawe Ekhaya

I-Axenfeld-Rieger syndrome iyisimo esingavamile sofuzo. Ingathinta amehlo engane yakho. Ngezinye izikhathi izimpawu zingavela nakwezinye izingxenye zomzimba. Kuye ngezimpawu zengane yakho, kungadingeka ukuthi uyiqaphe ukuze ubone ukuthi amehlo ayo noma umbono wayo uyashintsha yini. Kodwa-ke, kungenzeka kakhulu ukuthi ingane yakho izoba ne-glaucoma ngesikhathi esithile empilweni yayo. Ngakho-ke, uma amehlo engane yakho ebuhlungu noma umbono wayo uba mubi kakhulu, bheka uchwepheshe wamehlo ngokushesha.

Uma ukhathazekile ngokudlulisela ukuguquka kwezakhi zofuzo okubangela i-Axenfeld-Rieger syndrome ezinganeni zakho, khuluma nodokotela wakho. Angase akuncome ukwelulekwa kwezakhi zofuzo ukuze akusize uqonde izingozi zakho. Khumbula, kubalulekile ukuqaphela lezi zimo nokufuna iseluleko sezokwelapha uma kudingeka.

I- Axenfeld-Rieger syndrome, i-Axenfeld-Rieger syndrome, izifo zofuzo, izifo zamehlo, i-glaucoma, impilo yabantwana, i-glaucoma, izinkinga zamehlo, izinkinga zofuzo, izimo zokuzalwa, i-aniridia, i-DNA