Ingaba umntwana wakho wazalwa engenalo icandelo elinombala elisweni lakhe? Singathetha ngeenkcukacha ngo-Aniridia?

Xa umntwana wakho omncinci wazalwa okokuqala, ngaba waphawula into engaqhelekanga okanye eyahlukileyo emehlweni akhe amancinci? Ngamanye amaxesha, nangona kunqabile kakhulu, abantwana bazalwa benenxalenye enemibala yeliso, i-iris, abanye abayibiza ngokuba yi "black ring", engekho ngokupheleleyo okanye inxalenye yayo. Kwizonyango, le meko siyibiza ngokuba yi-"Aniridia" . Ukuva eli gama kunokuba yinto eyoyikisayo, kodwa ungakhathazeki. Eyona nto ibalulekileyo kukwazi kakuhle ngale nto. Masithethe ngayo yonke into ngokucacileyo namhlanje.

Yintoni kanye kanye i-Aniridia? Ngamafutshane...

Ngamafutshane, i-Aniridia yimeko apho umntwana ezalwa engenalo inxalenye enemibala okanye engenanto kwaphela emehlweni akhe, i-iris. Abanye abantwana abanayo kwaphela i-iris. Abanye banokuba nenxalenye encinci ye-iris kuwo omabini amehlo.

Into ebalulekileyo kukuba le meko (i-Aniridia) isoloko ichaphazela omabini amehlo omntwana. Ayisiyonto ichaphazela iliso elinye kuphela. Oogqirha badla ngokuxilonga le meko kwangoko nje ukuba umntwana azelwe. Kuba xa ujonga amehlo, kuyacaca ukuba le iris ayikho. Nokuba incinci kangakanani na iris yomntwana, le meko (i-Aniridia) ngokuqinisekileyo iya kuyichaphazela indlela abona ngayo. Kwakhona, inokuba sisizathu sezinye iingxaki zamehlo njengoko ekhula.

Kutheni oku kwenzeka kubantwana bethu abancinci? Yintoni ebangela i-Aniridia?

Ngoku mhlawumbi ucinga, "Kutheni oku kwenzeke kumntwana wam?" I-Aniridia sisifo semfuza. Oko kukuthi, sibangelwa kukutshintsha kwezakhi zofuzo ngaphakathi kwiiseli zomzimba wethu.

Ukuchaneka, unobangela oyintloko woku kukutshintsha kwejini ebizwa ngokuba yi-(PAX6) . Le jini (PAX6) ibaluleke kakhulu. Kuba, ngelixa umntwana esesibelekweni, le jini inceda ekwakhiweni kwamehlo omntwana, ezinye iindawo zobuchopho, umqolo kunye namalungu afana nepancreas. Olu tshintsho lwejini ludla ngokuvela phakathi kweeveki ezili-12 ukuya kwezili-14 zokukhulelwa.

Ngubani onokuba nethuba elikhulu lokufumana le meko (i-Aniridia)? (Izinto ezibangela umngcipheko)

I-Aniridia ixhaphake kakhulu ebantwaneni abanabazali abanale meko. Umzekelo, ukuba omnye wabazali une-Aniridia, kukho amathuba angama-50/50 okuba nomntwana wabo abe nayo.

Kodwa oku akuthethi ukuba ukuba une-Aniridia, bonke abantwana bakho baya kuba nayo. Kuthetha nje ukuba kukho umngcipheko ophezulu kancinci kunabanye.

Kwakhona, ngamanye amaxesha umntwana unokuba nale meko nokuba bobabini abazali abanayo i-Aniridia. Siyibiza ngokuba yi-sporadic, oko kuthetha ukuba yenzeka ngokungacwangciswanga . Phantse umntwana omnye kwabathathu unokukhula i-Aniridia ngale ndlela.

Ziziphi iimpawu esinokuzibona kumntwana one-Aniridia?

Ngenxa yokuba indawo enombala yeliso lomntwana, i-iris, ayikho, i -puppy ingabonakala inkulu kunesiqhelo. Ngamanye amaxesha imilo yalo mpu ingatshintsha ukusuka kwelinye icala ukuya kwelinye. Kwakhona, kunokuba nzima kubo ukulungisa amehlo abo ekukhanyeni okukhanyayo okanye okuncinci. Oku kunokubangela iimpawu ezifana nezi:

• Ukulahlekelwa ngokupheleleyo okanye inxalenye yombono: Ukubona kunokuncipha kwelinye okanye omabini amehlo.
• Umbono ofipheleyo: Usenokungakwazi ukubona izinto ngokucacileyo.
• Intlungu yamehlo: Ngamanye amaxesha amehlo anokuba buhlungu.
• Ukubona okuphantsi: Ukubona okuphantsi kunokuba kubi kakhulu.
• Uloyiko lokubona ukukhanya: Ubunzima bokujonga ukukhanya, amehlo asenokubonakala ngathi aluhlaza okwesibhakabhaka.

Ngaba i-Aniridia ingabangela ezinye iingxaki?

Ewe, umntwana one-Aniridia akanakuba ne-iris enciphileyo kuphela, kodwa neendawo zeliso ezinceda ekuboneni, njengemithambo-luvo ye-optic kunye ne-retina.

Kwakhona, njengoko abantwana abane-Aniridia bekhula, banamathuba amaninzi okufumana ezinye izifo zamehlo. Umzekelo:

• IiCataracts: Ukufiphala kwelensi yeliso.
• Amafu e-cornea: Ukufiphala kwe-membrane ecacileyo ngaphambili kweliso.
• I-Glaucoma: Imeko apho uxinzelelo ngaphakathi kweliso lunyuka, nto leyo eyonakalisa umthambo wokubona.
• I-Nystagmus: Ukunyakaza kwamehlo okukhawulezayo nokungalawulekiyo ukuya phambili nokubuya.

Enye into ebalulekileyo kukuba abantwana abane-aniridia engacwangciswanga, ingakumbi, basengozini enkulu yokuba nomhlaza wezintso ongaqhelekanga obizwa ngokuba yi-Wilms tumor. Ngenxa yokuba i-gene (PAX6) esithethe ngayo ngaphambili ayichaphazeli amehlo kuphela kodwa nophuhliso lwezinye iindawo zomzimba, kuquka nezintso, utshintsho kuloo gene lunokuchaphazela nezinye iindawo. Ke ngoko, oogqirha bayayiqwalasela le nto.

Oogqirha bayixilonga njani ngokuchanekileyo le meko (i-Aniridia)?

Ngokwesiqhelo, ugqirha unokuxilonga esi sifo (i-Aniridia) kwangoko nje ukuba umntwana abelekwe, kuba kuyacaca kwangoko ukuba amehlo omntwana akanayo i-iris.

Nangona kunjalo, ukuba ukhathazekile ukuba umntwana wakho unokuba ne-Aniridia okanye enye imeko yemfuza, nokuba kungenxa yokuba kukho umntu kusapho lwakho onayo le meko okanye ngenxa yezinye izizathu, ungathetha nogqirha wakho malunga novavanyo lwemfuza ngaphambi kokukhulelwa . Oku kubandakanya ukuthatha isampuli yegazi kuwe ukuze ubone ukuba umntwana wakho usemngciphekweni wokuba nesifo semfuza. Ngamanye amaxesha, uvavanyo olubizwa ngokuba yi -amniocentesis lunokwenziwa. Oku kubandakanya ukuthatha isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana kwaye uluvavanye.

Yintoni enokwenziwa ukunyanga umntwana one-Aniridia?

Xa benyanga le meko (i-Aniridia), injongo ephambili yoogqirha kukugcina nokuphucula umbono womntwana kangangoko kunokwenzeka.

Eyona nto ibalulekileyo kukujonga amehlo omntwana wakho rhoqo ngugqirha wamehlo. Okukhona ubona utshintsho ngokukhawuleza emehlweni omntwana wakho, kokukhona amathuba akho okulawula iimpawu nokuthintela iingxaki ayanda.

Umntwana usenokufuna olunye okanye ngaphezulu kwezi ndlela zonyango zilandelayo:

• Iiglasi okanye iiLensi zoQhagamshelo: Njengabanye abantu abanengxaki yokubona, abantwana abane-Aniridia banokuphucula ukubona kwabo ngokusebenzisa iiglasi okanye iilensi zoQhagamshelo. Iilensi ezikhethekileyo ezinemibala ziyafumaneka kubantwana abane-Aniridia. Ezi zifana ngqo ne-iris yeliso. Zikwanceda ekulawuleni ubungakanani bokukhanya okungena elisweni kwaye zinciphise ukuva ukukhanya.
• Amayeza: Ukuba umntwana wakho uneengxaki zeglaucoma okanye ze-cornea, ugqirha angakunika amathontsi amehlo anonyango, iinyembezi ezenziweyo, okanye amanye amayeza .
• Utyando: Ukuba kuvela i-cataract, kunokufuneka isuswe ngotyando lwe-cataract . Kwakhona, utyando lwe-glaucoma ngamanye amaxesha lunokufuneka ukulawula imeko. Njengonyango olutsha, abanye abantwana banokukhetha ukufaka ii-irises zokwenziwa. Nangona kunjalo, ekubeni olu nyango lusaqala, alufanelekanga kubo bonke abantwana. Esi sisigqibo esenziwa ngugqirha.

Ziziphi iimeko apho kufuneka ubone ugqirha ngoko nangoko?

Ukuba ubona naluphi na utshintsho emehlweni okanye ekuboneni komntwana wakho, bonana nogqirha ngokukhawuleza. Ungambuza ugqirha imibuzo efana nale:

• Ndifanele ndihlolwe amehlo omntwana wam kangaphi?
• Ingaba ukufakelwa kwe-iris yokwenziwa kufanelekile kumntwana wam?
• Angakanani amathuba okuba umntwana wam abe neengxaki?
• Zeziphi iinguqu okanye iimpawu ekufuneka ndiziqaphele ngakumbi?

Kwimeko engxamisekileyo, oko kukuthi, ukuba ubona naziphi na kwezi mpawu zilandelayo, kufuneka umse umntwana wakho esibhedlele ngokukhawuleza:

• Ukuba ngequbuliso ulahlekelwa kukubona.
• Ukuba uva iintlungu eziqatha emehlweni akho.
• Ukuba uqala ukubona izibane ezintsha phambi kwamehlo akho, okanye ukuba uqala ukubona ii-floaters ezimnyama.

Ukuba umntwana wam une-Aniridia, ndimele ndilindele ntoni?

Ukuba umntwana wakho une-Aniridia, ungalindela ukuba abe neengxaki zokubona. Kwakhona, kuya kufuneka ahlolwe amehlo rhoqo ubomi bakhe bonke.Le yindlela ejongwa ngayo impilo yamehlo akhe.

Ngokwezibalo, malunga nesibhozo kwishumi labantwana abane-Aniridia banengxaki yokubona kakuhle okanye uhlobo oluthile lokukhubazeka. Kwakhona, abantu abaninzi abane-Aniridia baba ne-glaucoma, ngokuqhelekileyo phakathi kweminyaka eli-10 nengama-20 ubudala.

Nangona kunjalo, musa ukothuka zezi zibalo. Oku akuthethi ukuba wonke umntwana ozelwe ene-Aniridia uya kuba nazo zonke ezi zinto. Thetha nogqirha wakho okanye ingcali yamehlo ukuze ufumane ukuba zeziphi izinto ezinokuchaphazela umntwana wakho ngokukodwa kunye nento onokuyilindela njengoko ekhula.

Kuqhelekile ukuziva usoyika kwaye wothukile xa ufumanisa ukuba usana lwakho olusandul’ ukuzalwa lunemeko echaphazela umbono walo xa luzalwa. I-Aniridia inokubangela iingxaki ezahlukeneyo, kodwa kukho unyango olunokunceda.

Ezona zinto zibalulekileyo ekufuneka sizikhumbule kweli bali (Umyalezo Wokuya Ekhaya)

Kulungile, masidibanise ezinye zezona ngongoma zibalulekileyo koko sithethe ngako size sizikhumbule:

• I-Aniridia yimeko apho umntwana ezalwa engenalo lonke okanye inxalenye yenxalenye yeliso enombala, i-iris.
• Le yimeko yemfuza. Ngokukodwa, i-gene (PAX6) ibandakanyeka koku.
• Le meko ngokuqinisekileyo iyawuchaphazela umbono. Ekuhambeni kwexesha, inokukhokelela nakwezinye izifo zamehlo ezifana ne-cataracts kunye ne-glaucoma.
• Eyona nto ibalulekileyo kukubona le meko kwangethuba kwaye uhlole amehlo omntwana wakho rhoqo ngugqirha wamehlo ngamaxesha athile. Le yinto ekufuneka yenziwe ngokuqinisekileyo.
• Kukho unyango lwesi sifo (i-Aniridia). Oku kuquka iiglasi, iilensi zokunxibelelana, amayeza, kwaye ngamanye amaxesha kwanotyando.
• Kuqhelekile ukuba uzive usoyika kwaye ulusizi xa ufumanisa ukuba umntwana wakho unale meko. Kodwa eyona nto ibalulekileyo kukungaphakuzeli kwaye wenze ngokweengcebiso zonyango ezifanelekileyo. Ugqirha wakho uza kukunika lonke uncedo olufunayo.

Ukuba uneminye imibuzo malunga noku, musa ukuyigcina kuwe. Buza ugqirha wakho wosapho okanye ingcali yamehlo.

I- Aniridia, iris yeliso, inxalenye enombala yeliso, ukukhubazeka kokubona, i-PAX6 gene, izifo zamehlo, izifo zamehlo zabantwana