Masifunde ngeLeber Hereditary Optic Neuropathy (LHON) ngokulula!

Ingaba umbono wakho uye wehla kancinci kancinci kwaye yonke into yaqala ukuba luzizi? Mhlawumbi kwaqala kwelinye iliso, kwaye emva kweenyanga ezimbalwa, elinye iliso nalo laba yimeko enjalo? Kufuneka ukuba ukhathazeke kakhulu ngezi zinto. Namhlanje siza kuthetha ngesifo esingaqhelekanga esinokubangela ezi mpawu, kodwa sibizwa ngokuba yiLeber Hereditary Optic Neuropathy, okanye ``(LHON)``.

Yintoni iLeber hereditary optic neuropathy (LHON)?

Ngamafutshane, i-Leber hereditary optic neuropathy, okanye i-LHON ngamafutshane, yimeko yemfuza edluliselwa kwizizukulwana ngezizukulwana. Eyona nto iphambili eyenzekayo kukuba ulahlekelwa kukubona. Xa uninzi lwabantu lukufumana njengelifa, ukubona kwabo kuqala ukufiphala kuze kube mandundu kancinci emva kweenyanga ezintandathu. Ngamanye amaxesha, kuqala kwelinye iliso kuze kuchaphazele elinye iliso emva kweenyanga ezimbalwa. Ngokuqhelekileyo kuqala ebuntwaneni okanye ebusheni. Ngelishwa, abantu abaninzi abane-LHON banokuba ziimfama ngokusemthethweni. Oku kuthetha ukuba ukubona kwabo kuyancipha ukuya kwinqanaba apho bathathwa njengabangaboni ngokusemthethweni.

Ikwabizwa ngokuba sisifo sikaLeber. Kungenxa yokuba ugqirha owasifunda okokuqala yayinguGqr. Theodore Leber. Igama elithi "ilifa" lithetha ukuba yinto oyizuza njengelifa . "I-Optic neuropathy" lithetha ukuba sisifo esichaphazela i-optic nerve yakho . I-optic nerve yakho ifana nentambo esuka kwikhamera iye engqondweni yakho. Izinto ozibonayo ngamehlo akho, oko kukuthi, imiqondiso yokubona, zithwalwa ziye engqondweni yakho yile optic nerve. Kulapho ingqondo "ibona khona." Ngoko ke, ukuba le optic nerve yonakele, leyo yenye yeendlela eziphambili onokulahlekelwa ngazo umbono wakho.

Ngaba kukho iintlobo ezahlukeneyo ze-LHON?

Ewe, ukuba i-LHON ichaphazela kakhulu imithambo-luvo yakho yamehlo, oko kuthetha ukuba ukulahleka kokubona luphawu olulodwa, ibizwa ngokuba yimeko eqhelekileyo ye-LHON. Le yimeko abantu abaninzi abanesifo seLeber abanayo.

Nangona kunjalo, kunqabile kakhulu , abanye abantu banokubonakalisa ezinye iimpawu kunye ne-LHON. Ezi zinokuchaphazela ezinye iindawo zenkqubo yabo yemithambo-luvo, kwaye ngamanye amaxesha kwanentliziyo yabo. Oogqirha bayibiza le meko ngokuthi "Leber plus." Oku kuyinkimbinkimbi ngakumbi, kuba kunokubangela ezinye iingxaki zempilo, kungekuphela nje iingxaki zokubona.

Ixhaphake kangakanani i-LHON?

Akwaziwa ukuba i-LHON ixhaphake kangakanani na. Nangona kunjalo, uqikelelo lubonisa ukuba umntu omnye kwabangama-25,000 ukuya kuma-50,000 unokuba nale meko. Kwakhona kuyaphawuleka ukuba ama-80% ukuya kuma-90% abantu abane-LHON ngamadoda .

Zithini iimpawu ze-LHON (isifo sikaLeber)?

`(LHON)` ibangela ukuba ukulahleka kokubona kwenzeke ngaphandle kwentlungu kwaye kancinci kancinci (kwi-subacute)., oko kuthetha ukuba kwenzeka kancinci kancinci kwiinyanga ezininzi. Utshintsho lokuqala onokulubona lukwimbono yakho ephakathi . Umbono ophakathi yinto oyibonayo xa ujonge phambili - umbono owusebenzisayo ukuqhuba, ukufunda iincwadi, nokubona ubuso. Umbono wakho ophakathi usenokuqala ukubonakala ungacacanga, okanye usenokuba nebala elimnyama phakathi kwendawo yakho yokubona, njengebala elingaboniyo. Oku kungaqala kwelinye iliso kuze kudlulele kwelinye iliso.

Le meko iza kuba mandundu kwiinyanga ezimbalwa ezizayo. Usenokuqala ukulahlekelwa ngumbono wakho wombala - oko kuthetha ukuba usenokungayiboni eminye imibala okanye ungakwazi ukuyihlulahlula. Ukulahleka kombono kudla ngokuzinza kwiinyanga ezintandathu ukuya kunyaka emva kokuba iimpawu zokuqala ziqalile. Ngeli xesha, ubuchule bokubona babantu abaninzi bunokuba yi-20/200 okanye ngaphezulu, oku kuthetha ukuba ungaboni ngokusemthethweni. Usenokuba nombono wokukhanya, kodwa kuya kufuneka ufunde ukuphila nombono ophantsi. Khawuthelekelele, kuvakala ngathi ihlabathi liza kufiphala ngequbuliso.

Zithini iimpawu ze "Leber's plus"?

Njengoko besitshilo ngaphambili, abantu abane-"Leber's plus" banokufumana ezinye iimpawu ezahlukeneyo ukongeza ekungabonini. Ezinye zezi ziquka:

• Iingxaki zokunyakaza , umzekelo ukungcangcazela.
• Iingxaki zokulinganisela kunye nokulungelelanisa (ataxia) . Njengokugxadazela xa uhamba, okanye ukungakwazi ukubamba izinto kakuhle.
• Iingxaki zokuhambisa intliziyo , umzekelo, ukubetha kwentliziyo okungahambelaniyo (i-arrhythmias).
• Iimpawu ze-multiple sclerosis (MS) , ezinje ngobuthathaka bemisipha kunye nokudinwa kakhulu.

Zithini izizathu zeLeber hereditary optic neuropathy?

I-Leber's inheritance optic neuropathy sisifo se-mitochondrial . Sisifo semfuza osifumana kwi-mitochondria kwiiseli zakho. Ngoku usenokuba uzibuza ukuba zeziphi ii-mitochondria. Ngamafutshane, ii-mitochondria zifana neejenereyitha ezincinci zamandla ngaphakathi kwiiseli zakho. Zithatha ioksijini kunye nezondlo kwaye zivelise amandla afunekayo kwiiseli zakho ukuze zisebenze. Kufana nejenereyitha enika amandla indlu yethu.

Ngoko ke, kwizifo ze-mitochondrial, le nkqubo yokuvelisa amandla iyaphazamiseka. Emva koko iiseli azifumani amandla eziwadingayo. Ngenxa yoku, ezinye iiseli zinokuyeka ukusebenza kakuhle, okanye zife.

Xa i-mitochondria yakho ingasebenzi kakuhle, amalungu omzimba wakho axhomekeke kakhulu kumandla e-mitochondrial ngawona aqala ukuva iziphumo. Ezona ziphambili phakathi kwezi zindawo zamehlo akho, ingakumbi i-optic nerve yakho.Ukuba une-mitochondria eneengxaki ezaneleyo, la malungu awafumani amandla awadingayo ukuze asebenze ngokufanelekileyo. Yile nto eyenzekayo kwisifo sikaLeber. Isiphumo kukuba i-optic nerve yakho iyawohloka kancinci kancinci (`iyawohloka`) . Le yindlela olahlekelwa ngayo kukubona nge-`(LHON)`.

I-LHON izuzwa njani njengelifa?

I-LHON ibangelwa kukuguquka kwezakhi zofuzo kwi-DNA kwi-mitochondria yakho. Ngokukodwa, ukuguqulwa kwezakhi zofuzo kwi-MT-ND1, MT-ND4, MT-ND4L, okanye MT-ND6 kubangela i-LHON.

Okubalulekileyo kukuba, ufumana yonke i-mitochondria yakho kumama wakho, hayi kutata wakho. Ke ngoko, ngoomama kuphela abanokudlulisela olu tshintsho kubantwana babo. Nokuba utata unesifo, akayi kuludlulisela kubantwana bakhe olu tshintsho.

Nangona kunjalo, ayinguye wonke umntu ophethe olu tshintsho lwezakhi zofuzo oya kuba neempawu ze-`(LHON)`. Ngenxa yoko, abanye abantu basenokungazi nokuba baphethe olu tshintsho lwezakhi zofuzo. Oku kunzima kancinci, akunjalo? Oku kuthetha ukuba nokuba umama unalo olu tshintsho lwezakhi zofuzo, umntwana usenokuba neempawu okanye angazifumani.

Ngaba kukho naziphi na izinto ezinokubangela umngcipheko wokuphuhlisa i-LHON?

Lo ngumbuzo obaluleke kakhulu. Abaphandi abakaqondi kakuhle ukuba kutheni abanye abantu abane-gene mutation bebonakalisa iimpawu ze-`(LHON)` kanti abanye abanazo.

Nangona kunjalo, ubungqina obuthile bubonisa ukuba uxinzelelo lwemizimba kunye neetyhefu ezikwindalo zinokuba negalelo ekuqaliseni kweempawu. Oku kuthetha ukuba ezi zinto zangaphandle zongeza uxinzelelo olongezelelweyo kwiinkqubo esele ziphantsi koxinzelelo ngenxa yotshintsho lwezakhi zofuzo. Ekuhambeni kwexesha, ingcamango kukuba olu xinzelelo lunokwakheka kwaye ekugqibeleni lukhokelele kwiimpawu.

Nazi ezinye izinto ezinokuba yimbangela yomngcipheko:

• Ukutshaya.
• Ukusetyenziswa kotywala.
• Ukuchanabeka kwiityhefu zokusingqongileyo (umzekelo, ezinye izibulali-zinambuzane, iikhemikhali zoshishino).
• Ukuba nezinye izifo zesisu.
• Uxinzelelo olukhulu lwengqondo .

I-LHON ifunyaniswa njani?

Ingcali yakho yokhathalelo lwamehlo iza kwenza uthotho lweemvavanyo zamehlo eziqhelekileyo ukujonga umbono wakho nokufumanisa unobangela wengxaki. Basenokungakwazi ukubona nantoni na engalunganga ngeliso lakho okanye kwimithambo-luvo yamehlo kwizigaba zokuqala, oku kwenzeka kwiinyanga ezintandathu zokuqala emva kokuba iimpawu ziqalile. Umonakalo uba sobala ngakumbi emva kweenyanga ezintandathu zokuqala emva kokuba iimpawu ziqalile.

Ukuba ugqirha wakho urhanela ukuba i-LHON, uza kucebisa ukuba kwenziwe uvavanyo lwemfuza . Le yindlela yokwazi ngokuqinisekileyo ukuba unayo enye yenguqu zemfuza esithethe ngayo. Olu vavanyo yindlela yokuqinisekisa ukuba unesifo.

Ngaba kukho unyango okanye unyango olupheleleyo lwe-LHON?

Ngelishwa, okwangoku akukho nyango lwe-LHON. Iyeza elilodwa elivunyiweyo yi-FDA ngoku luhlobo lwe-Coenzyme Q10 oluyilwe ngokwenziwa olubizwa ngokuba yi-Idebenone. Izilingo ezilawulwayo ezingacwangciswanga zibonise ukuphucuka okuthile kwindlela yokubona kakuhle kubantu abane-LHON. Amanye amayeza afanayo nawo akwisigaba sophando.

Abaphandi bakwafunda ngonyango lwezakhi zofuzo , olunokusetyenziswa njengonyango lwexesha elizayo lwe-LHON. Kodwa ezi zisekwinqanaba lophando. Ngoko ke, okwangoku, kunzima ukuthemba unyango olupheleleyo. Nangona kunjalo, kukho iindlela zokulawula iimpawu kunye nokulawula ukuwohloka kombono ukuya kuthi ga kwinqanaba elithile.

Injani imbono nge-LHON?

Xa ukulahleka kokubona kwenzeka ngenxa ye-LHON, kunokuba ngokukhawuleza, kube nzima, kwaye kuhlala kuhleli . Abantu abaninzi kufuneka bafunde ukuphila nombono ophantsi. Ukubona okuphantsi kukungaboni kakuhle okuphakathi ukuya kokukhulu, kodwa akuthethi ukuba yimfama ngokupheleleyo. Ukubona okuphantsi okuphakathi luvavanyo lokubona oluyi-20/70. Ukubona okuphantsi okuqatha luvavanyo lokubona oluyi-20/200 okanye ngaphantsi. Olu luluhlu olubanzi lokubona olunokufezekiswa ekugqibeleni.

Nokuba ukwicala eliphakathi okanye elinzima kweli candelo lidla ngokuba yingxaki yethamsanqa. Unyango lunokwenza umahluko, kodwa utshintsho lwezakhi zofuzo onalo lwenza umahluko omkhulu. Abanye abantu abane-LHON ngokungalindelekanga baphinda bafumane umbono wabo emva konyaka bengaboni. Amathuba olu hlobo lokuchacha kombono ayahluka ngokweenguqu ezahlukeneyo zezakhi zofuzo. Nangona kunjalo, nokuba ufumana umbono kwakhona, kusenokwenzeka ukuba kusafuneka uphile nombono ophantsi.

Ngaba ikho indlela yokuthintela i-LHON?

Nangona uninzi lwabantu abafumana ilifa lee-genes ezinxulumene ne-LHON bengazange balahlekelwe kukubona, okwangoku akukho ndlela eyaziwayo yokukuthintela. Ukusela ii-antioxidants kunye nokuphepha ii-neurotoxins ezifana notywala kunye necuba kunokunciphisa umngcipheko wakho, kodwa oku akukaqinisekiswa.

Khumbula, bonke abafazi abanale mizila baza kuyidlulisela kubantwana babo. Ingcebiso ngemizila yemfuza inokukunceda ukuba ucinge ngale ngozi. Ukuba kukho umntu kusapho lwakho onesi sifo, okanye ukuba ufumanisa ukuba unale nguqu yemizila yemfuza, kubaluleke kakhulu ukufumana ingcebiso ngemizila yemfuza ngaphambi kokuba uqalise usapho.

Nokuba uyazi ngembali yosapho lwakho ye-LHON, okanye yinto engalindelekanga kuwe, ukulahlekelwa ngumbono wakho ngequbuliso kunokuba ngamava othusayo nabuhlungu. Wena nogqirha wakho nisenokungaqondi ukuba kwenzekani ekuqaleni. Kodwa wakuba niyazi ngayo, kuya kufuneka nifunde okuninzi njengoko niziqhelanisa nemeko yenu entsha.

Khumbula, awuwedwa kolu hambo - kukho ihlabathi lezixhobo ezinokukunceda. Kukho imibutho, izixhobo, kunye nenkxaso yempilo yengqondo efumanekayo kwabo bangaboni kakuhle.

Okokugqibela, izinto ekufuneka uzikhumbule

Kulungile, ngoko ke ndiyathemba ukuba unalo ulwazi malunga ne-`(LHON)` esithethe ngayo. Le yingongoma enzima kancinci, kodwa kubaluleke kakhulu ukuba uyiqaphele.

• (LHON) sisifo esidluliselwa kwilifa esonakalisa umthambo we-optic kwaye sibangela ukulahleka kokubona.
• Oku kubangelwa kukuguquka kwezakhi zofuzo kwi-DNA ye-mitochondrial, ezuzwa kumama ukuya kumntwana .
• Iimpawu zihlala zibonakala zisencinci, kwaye umbono uyancipha kancinci kancinci ngaphandle kwentlungu.
• Ukongeza ekuboneni, ezinye iingxaki zenkqubo yemithambo-luvo zinokwenzeka kwimeko ebizwa ngokuba yi "Leber plus" .
• Izinto ezinje ngokutshaya notywala zinokuba zizinto ezibangela umngcipheko wokukhula kweempawu.
• Okwangoku akukho nyango luthile, kodwa kukho amayeza afana ne-'Idebenone' kunye neendlela zokuziqhelanisa nokubona okuphantsi.
• Ukuba unamathandabuzo malunga noku, ngokuqinisekileyo bonana nogqirha wamehlo uze wenze uvavanyo lwemfuza.
• Ukuphila nale meko kunokuba nzima, kodwa awuwedwa, fumana uncedo.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha. Hlala uphilile!

I- Leber inherent optic neuropathy, i-LHON, ukulahleka kokubona, i-optic nerve, utshintsho lwemfuza, izifo ze-mitochondrial, ubumfama obuzuzwe njengelifa