Konke malunga neChoroideremia: isifo esingaqhelekanga esibangela ukulahleka kombono kancinci kancinci

Ngaba nawe uvakalelwa kukuba umbono wakho uya usiba mbi ebusuku? Okanye umbono wakho ongasecaleni, oko kukuthi, umbono wakho ojonge emacaleni, uya usiba mbi kancinci kancinci? Ngamanye amaxesha asizihoyi kangako ezi zinto, kodwa zinokuba luphawu lwemeko embi engaphantsi. Namhlanje siza kuthetha ngesifo esingaqhelekanga, kodwa esibaluleke kakhulu ukusazi, esinokulahlekelwa ngumbono kancinci kancinci size sikhokelela ekubeni yimfama. Oku kubizwa ngokuba yi-choroideremia.

Yintoni le choroideremia?

Ngamafutshane, iChoroideremia sisifo samehlo esingaqhelekanga, esidluliselwa kwilifa esidluliselwa ngee-genes. Sibangela ukuba ukubona kwamehlo omabini kube mandundu kancinci kancinci, ekugqibeleni kukhokelela ekubeni yimfama. Esi sifo sidla ngokuchaphazela amadoda kakhulu.

Usenokuba ukhe weva ngesinye isifo samehlo esibizwa ngokuba yi-`(Retinitis Pigmentosa).` Kwakhona ibangela ukuba i-retina ibe buthathaka kancinci kancinci. Okumangalisayo kukuba, iimpawu kunye nezinye iziphumo zovavanyo lwezifo zombini, `(Choroidemia)` kunye ne-`(Retinitis Pigmentosa), zinokufana. Ke ngoko, eyona ndlela ilungileyo yokwazi kakuhle ukuba zeziphi kwezi zifo zimbini onazo kukufumana `(uvavanyo lwemfuza).`

Kwenzeka ntoni ngaphakathi kweliso? Oku kuyichaphazela njani indlela ebona ngayo?

Amehlo ethu afana neekhamera ezimangalisayo. Ngaphakathi kweliso, kukho inxalenye ebizwa ngokuba yi-retina . Kulapho kukho khona iiseli ezikhethekileyo ezibizwa ngokuba zii-photoreceptor cells ezinokubona ukukhanya. Ezi seli zithatha ukukhanya okungena elisweni zize zikuguqule kube ziimpawu zombane. Ezi zimpawu zithunyelwa engqondweni zijikeleze i-optic nerve . Ingqondo isebenzisa ezi zimpawu ukudala imifanekiso esiyibonayo.

Ngoku, emva kwale retina, phakathi kwesigqubuthelo esimhlophe esikhuselayo sangaphandle seliso (i-sclera) kunye ne-retina, kukho umaleko obizwa ngokuba yi-choroid . Le choroid kulapho i-retina ifumana khona ukutya kwayo, oko kukuthi, inemithambo yegazi eyinika igazi. Cinga ngayo njengokunika amanzi kunye nokondla isityalo.

Kwi-choroideremia, imithambo yegazi kwi-choroid iyonakala. Emva koko, i-retina ayifumani gazi laneleyo, ngoko ke nayo iqala ukonakala. Oku kuchaphazela ngakumbi umbono wethu ongaphandle .

Ixhaphake kangakanani iChoroideremia?

Esi sisifo esingaqhelekanga. Xa sithetha nje, kuqikelelwa ukuba ngumntu omnye kuphela kwi-100,000 okanye omnye kubantu abangama-50,000 ofumana esi sifo . Oku kuthetha ukuba nakwilizwe lethu, kusenokuba kukho inani elincinci kakhulu labantu abanale sifo.

Zithini iimpawu zesi sifo? Jonga ukuba unazo na ezi.

Iimpawu ze-choroideremia azibonakali ngequbuliso. Zikhula kancinci kancinci. Nazi ezinye zeempawu eziphambili:

• Ukungaboni ebusuku (ukungaboni ebusuku) yenye yeempawu zokuqala. Ngamanye amaxesha olu phawu lunokubonakala kubantwana abangaphantsi kweminyaka eli-10 ubudala. Khawuthelekelele, nokuba kwindawo ekhanyayo kancinci apho abanye banokubona kakuhle, aba bantu abakwazi ukubona kakuhle.
• Umbono obuthathaka ojikeleze i-peripheral. Oku kuthetha ukuba xa ujonge ngqo phambili, awukwazi ukubona izinto emacaleni. Kungavakala ngathi ujonge kwi-tunnel.
• Ukuncipha kobuchule bokubona. Amandla okubona izinto ngokucacileyo nangokukhawuleza ayancipha. Kunokuba nzima ukufunda oonobumba nokwahlula izinto ezikude.
• Ukungakwazi ukubona imibala ngokufanelekileyo. Indlela ebonakala ngayo imibala inokutshintsha. Eminye imibala inokuba nzima nokuyibona.
• Kancinci kancinci, umbono osecaleni uyalahleka ngokupheleleyo, nto leyo ekhokelela ekubeni yimfama. Ekuqaleni, umbono osecaleni uyancipha, ngokuhamba kwexesha kusala umbono ophakathi kuphela, kwaye ekugqibeleni, umbono opheleleyo unokulahleka.

Kubalulekile: Ukuba unenye okanye ngaphezulu kwezi mpawu, musa ukucinga ukuba yi-choroideremia. Nangona kunjalo, kubaluleke kakhulu ukubona ugqirha wamehlo ngokukhawuleza ukuze akuxilonge.

Kutheni iChoroideremia isenzeka? Ingaba yimfuza?

Ewe, njengoko besitshilo ngaphambili, iChoroideremia sisifo semfuza. Ngokuchanekileyo, sisifo semfuza esidityaniswe ne-X.

Sonke sinezinto ezibizwa ngokuba zii-chromosomes ngaphakathi kwiiseli zethu. Ezi chromosomes ziqulathe iijini zethu. Abafazi bane-chromosomes ezimbini ze-X (XX). Amadoda ane-chromosome enye ye-X kunye ne-chromosome enye ye-Y (XY).

I-gene enesiphene ebangela i-choroideremia ikwi-chromosome X.

Ngoku, nokuba umfazi une-chromosome enye ye-X enale gene inesiphako, ukuba enye i-chromosome ye-X iphilile, mhlawumbi ayinakuba nefuthe elikhulu. Ke ngoko, abafazi abane-gene enesiphako ('abathwali') abasoloko behlushwa yi-choroideremia kakhulu njengamadoda. Nangona kunjalo, banokubonakalisa iimpawu ezifana nokungaboni ebusuku njengoko bekhula. Nangona kunjalo, ukungaboni ngokupheleleyo kunqabile kakhulu.

Nangona kunjalo, amadoda ane-chromosome enye ye-X. Ngoko ke, ukuba ane-gene enesiphene kuloo chromosome ye-X, anokuba namathuba amaninzi okufumana i-choroideremia.

Indoda enale sifo idlulisela i-chromosome yayo ye-X enesiphene kwiintombi zayo. Ezo ntombi ziba ngabathwali besifo. Ezo ntombi zithwala zinethuba elingama-50% (inye kwababini) lokudlulisela i-chromosome ye-X enesiphene kubantwana bazo.

Ifunyaniswa njani iChoroideremia? Zeziphi iimvavanyo ezenziwayo?

Ukuba unayo nayiphi na kwezi mpawu zikhankanyiweyo apha ngasentla, ngokuqinisekileyo kuya kufuneka ubonane nogqirha wamehlo. Uza kuhlola amehlo akho kakuhle. Ukongeza kuvavanyo lwamehlo oluqhelekileyo, unokucelwa ukuba wenze uvavanyo oluthile, olufana nolu:

• I-Electroretinogram (ERG): Olu vavanyo lulinganisa indlela i-retina yakho esabela ngayo ekukhanyeni. Nangona isenokubonakala ngathi luvavanyo olunzima, eneneni alubuhlungu kakhulu. Ii-electrode ezincinci zifakwa ebusweni bakho, zijikeleze amehlo akho, nakwintloko yakho yentloko. Emva koko, ucingo oluncinci kakhulu (mhlawumbi ilensi) lufakwa ngqo elisweni lakho, ngaphezulu nje kwejwabu lakho elisezantsi. Igumbi liyaba mnyama kwaye izibane ezahlukeneyo zikhanyiswe emehlweni akho ukuze ubone indlela iiseli ezikwi-retina yakho ezisebenza ngayo. Oku kunokubonelela ngolwazi oluxabisekileyo malunga nendlela i-retina yakho esebenza ngayo.
• I-Optical Coherence Tomography (OCT): Olu luvavanyo olungenabuhlungu, olungangenisi ntlungu. Lufana nokuskena ngaphakathi kweliso lakho. Lusebenzisa imisebe yokukhanya ekhethekileyo ukuthatha imifanekiso enqamlezileyo yangaphakathi kweliso lakho, ingakumbi i-retina kunye ne-choroid. Oku kungabonisa ngokucacileyo ubukhulu bezi layer kunye nawo nawuphi na umonakalo onokuba wenziwe.
• I-Fluorescein Angiography: Kolu vavanyo, kufakwa idayi ekhethekileyo emthanjeni osengalweni yakho. Njengoko idayi ihamba ngemithambo yegazi esesweni lakho, ikhamera ekhethekileyo ithatha imifanekiso yangaphakathi kweliso lakho. Oku kunokunceda ukubona imeko yemithambo yegazi kwi-choroid nakwi-retina, njengokuba yonakele okanye iyopha.
• Uvavanyo lwemfuza: Le yeyona ndlela ithembekileyo yokwahlula phakathi kweChoroideremia nezinye izifo ezineempawu ezifanayo, ezifana neRetinitis Pigmentosa. Oku kuquka ukuthatha isampuli yegazi lakho, iinwele, ulusu, izicwili, okanye ngamanye amaxesha ulwelo lwe-amniotic kumntwana wakho osesibelekweni, kunye nokuvavanya ii-genes ezikuyo. Oku kunokunceda ekuqinisekiseni ukuba unenguqu kwi-gene ebangela iChoroideremia.

Ngaba kukho unyango lweChoroideremia?

Ngelishwa, akukho nyango lwe-choroideremia. Oku kunokukwenza uzive ulusizi, kodwa oko kuqhelekile.

Nangona kunjalo, oko akuthethi ukuba asinakwenza nto. Nangona esi sifo singenakunyangeka, singanyanga ezinye iingxaki ezibangelwa sisifo. Umzekelo:

• Amaqhinga okubona okuphantsi: Njengoko ukubona kuncipha kancinci kancinci, kukho izixhobo ezahlukeneyo ezinokunceda kwimisebenzi yemihla ngemihla. Imizekelo ibandakanya iiglasi zokukhulisa, izixhobo zokukhanyisa ezikhethekileyo, kunye neewotshi zokuthetha.
• Ingcebiso ngempilo yengqondo:Ukuphila nesifo esinganyangekiyo esinjalo kunokuba nzima engqondweni, ngoko ke kubaluleke kakhulu ukufuna uncedo kugqirha wengqondo okanye kumcebisi.
• Ingcebiso ngemfuza: Ekubeni esi sisifo semfuza, ingcebiso ngemfuza iluncedo kakhulu ekwenzeni amanye amalungu osapho aqaphele oku kwaye aqonde indlela okunokuchaphazela ngayo izizukulwana ezizayo.

Luhlobo luni lwekamva umntu oneChoroideremia analo?

Ngokwesiqhelo, umntu one-choroideremia uya kulahlekelwa ngumbono wakhe ongaphandle kwexesha. Ekugqibeleni, kusenokusala umbono ophakathi kuphela. Emva koko, abanye abantu banokuba ziimfama ngokupheleleyo. Oku kunokwahluka kumntu nomntu. Abanye abantu bayalahlekelwa ngumbono wabo ngokuhamba kwexesha, ngelixa abanye belahlekelwa ngumbono wabo ngokuhamba kwexesha.

Musa ukudimazeka yile nto. Isayensi yezonyango ihambela phambili imihla ngemihla. Uphando olutsha kunye nonyango olutsha lusoloko lufunwa.

Ndingazinyamekela njani?

Nokuba sele ufunyenwe une-choroideremia, zikho izinto onokuzenza ukuze uzinyamekele kakuhle. Ukugcina indlela yokuphila esempilweni kubaluleke kakhulu, nangona unesifo esinjalo.

• Yitya ukutya okunesondlo. Yitya imifuno eluhlaza, iziqhamo, kunye nenyama engenamafutha amaninzi. Nciphisa ityuwa egqithisileyo, iswekile, kunye namafutha angenampilo kangangoko kunokwenzeka.
• Zilolonge ngokwaneleyo. Nokuba yinto elula njengokuhamba imihla ngemihla ilungile.
• Ukuba uyatshaya, yeka. Ukutshaya akubi emehlweni kuphela, kodwa nakumzimba wakho wonke.
• Bona ugqirha wakho wamehlo rhoqo ukuze uhlolwe amehlo akho. Ngale ndlela, unokufunda ngemeko yemeko yakho kunye nonyango olutsha.
• Lala ngokwaneleyo.

Ndifanele ndimbone nini ugqirha?

Ukuba ubona naluphi na utshintsho embonweni wakho, njengokuncipha kombono wasebusuku, ukuncipha kombono ongasecaleni, okanye ukubona okufipheleyo, bona ugqirha ngokukhawuleza. Ingakumbi ukuba ufumana utshintsho olukhawulezileyo embonweni okanye iintlungu zamehlo, oku kusenokuba yingxamiseko yezonyango.

Kwakhona, ukuba ukufumanisa kunzima ukwenza imisebenzi yakho yemihla ngemihla, thetha nogqirha wakho ngaloo nto. Kungaba ngumbono omhle ukubuza ukuba uyakufanelekela na ukuthatha inxaxheba kwizinto ezifana novavanyo lwe-gene therapy .

Yintoni umahluko phakathi kweChoroideremia kunye neGyrate Atrophy yeChoroid kunye neRetina?

Zombini ezi zifo ziimeko zemfuza. Iimpawu zisenokufana. Nangona kunjalo, kukho umahluko ocacileyo phakathi kwezi zimbini.

• Ipateni yelifa: I-Choroideremia sisifo esidityaniswe ne-X. Oku kuthetha ukuba sifunyanwa nge-chromosome ye-X. I-Gyrate Atrophy yeChoroid kunye neRetina sisifo esibangelwa yi-autosomal recessive . Oku kuthetha ukuba ukuze umntwana afumane esi sifo, kufuneka afumane i-gene enesiphene kumama nakutata.
• I-gene eguquliweyo: Utshintsho lwe-gene olubangela zombini ezi zifo nalo lwahlukile.

Ezona zinto zibalulekileyo ekufuneka sizifunde koku (Umyalezo Wokuya Ekhaya)

Liyinyaniso elokuba i-choroideremia sisifo esingaqhelekanga nesinganyangekiyo esinokukhokelela ekulahlekelweni kokubona kwanokuba yimfama. Kuqhelekile ukuba neemvakalelo ezahlukeneyo xa ufumanisa ukuba unesifo esinjalo.

Kodwa khumbula, awuwedwa. Gcina ubudlelwane obuqinileyo neqela lakho lezonyango. Bakho ukuze bakuxhase. Uphando luyaqhubeka lokufumana unyango kunye nokunyanga i-choroideremia, kunye nezinye izifo zemfuza. Kwaye, sele kukho izixhobo kunye neenkonzo ezinokukunceda kwiimfuno zakho. Ukwamkela uncedo lwabanye kunokwenza ubomi bakho bube lula kancinci.

Soloko unethemba. Ngokuhambela phambili kwesayensi yezonyango, unyango olutsha lunokuvela kwixesha elizayo.

I- Choroideremia, isifo samehlo, ukulahleka kokubona, isifo semfuza, ubumfama basebusuku, i-retina, i-choroid, i-X-linked, uvavanyo lwemfuza, ubumfama