Ake sifunde nge-Leber Hereditary Optic Neuropathy (LHON) ngamagama alula!

Ingabe ukubona kwakho kuye kwehla kancane kancane futhi konke kwaqala ukufiphala? Mhlawumbe kwaqala esweni elilodwa, futhi ngemva kwezinyanga ezimbalwa, elinye iso nalo laba yilesi simo? Kumelwe ukuba ukhathazekile kakhulu ngalezi zinto. Namuhla sizokhuluma ngesifo esingavamile esingadala lezi zimpawu, kodwa esibizwa ngokuthi i-Leber Hereditary Optic Neuropathy, noma ``(LHON)``.

Iyini i-Leber hereditary optic neuropathy (LHON)?

Kalula nje, i-Leber hereditary optic neuropathy, noma i-LHON ngamafuphi, yisimo sofuzo esidluliselwa kusuka esizukulwaneni kuya kwesinye. Into eyinhloko eyenzekayo ukuthi ulahlekelwa ukubona. Lapho abantu abaningi bekuthola njengefa, ukubona kwabo kuqala ukufiphala bese kuba kubi kancane kancane ezinyangeni eziyisithupha. Ngezinye izikhathi, kuqala kwelinye iso bese kuthinta elinye iso ezinyangeni ezimbalwa kamuva. Ngokuvamile kuqala ebuntwaneni noma ebudaleni. Ngeshwa, abantu abaningi abane-LHON bangaba yizimpumputhe ngokomthetho. Lokhu kusho ukuthi ukubona kwabo kwehla kuze kube yilapho bebhekwa njengabayizimpumputhe ngokomthetho.

Kubizwa nangokuthi isifo sikaLeber. Lokho kungenxa yokuthi udokotela owasifunda okokuqala kwakunguDkt. Theodore Leber. Igama elithi "ifa" lisho ukuthi kuyinto oyizuza njengefa . Igama elithi "optic neuropathy" lisho ukuthi yisifo esithinta i-optic nerve yakho . I-optic neuropathy yakho ifana nekhebula elisuka kukhamera liye ebuchosheni bakho. Izinto ozibonayo ngamehlo akho, okungukuthi, izimpawu ezibonakalayo, zithwalwa ziye ebuchosheni bakho yi-optic nerve. Yilapho ubuchopho "bubona khona." Ngakho-ke, uma le optic nerve yonakele, leyo ingenye yezindlela eziyinhloko ongalahlekelwa ngazo umbono wakho.

Ingabe kunezinhlobo ezahlukene ze-LHON?

Yebo, uma i-LHON ithinta kakhulu izinzwa zakho zamehlo, okusho ukuthi ukulahlekelwa umbono yilona uphawu kuphela, kubizwa ngokuthi isimo se-LHON esijwayelekile. Lesi yisimo abantu abaningi abanesifo se-Leber abanaso.

Kodwa-ke, akuvamile kakhulu , abanye abantu bangase babe nezinye izimpawu kanye ne-LHON. Lokhu kungathinta ezinye izingxenye zesimiso sabo sezinzwa, futhi ngezinye izikhathi ngisho nenhliziyo yabo. Odokotela babiza lesi simo ngokuthi "Leber plus." Lokhu kuyinkimbinkimbi kakhulu, ngoba kungabangela ezinye izinkinga zempilo, hhayi izinkinga zokubona kuphela.

Ivame kangakanani i-LHON?

Akwaziwa kahle ukuthi i-LHON ivame kangakanani. Kodwa-ke, izilinganiso zisikisela ukuthi umuntu oyedwa kwabangu-25,000 kuya kwabangu-50,000 angaba nalesi simo. Kuyaphawuleka futhi ukuthi abantu abangu-80% kuya kwabangu-90% abane-LHON ngabesilisa .

Ziyini izimpawu ze-LHON (isifo sikaLeber)?

`(LHON)` kubangela ukulahlekelwa umbono kwenzeke ngaphandle kobuhlungu futhi kancane kancane (ngaphansi kwesikhumba)., okusho ukuthi kwenzeka kancane kancane ezinyangeni eziningana. Izinguquko zokuqala ongase uzibone zisembonweni wakho ophakathi . Umbono ophakathi yilokho okubonayo uma ubheka phambili - umbono owusebenzisa ukushayela, ukufunda izincwadi, nokubona ubuso. Umbono wakho ophakathi ungase uqale ukubonakala ungacacile, noma ungase ube nebala elimnyama phakathi nendawo yakho yokubona, njengendawo engaboni. Lokhu kungase kuqale kwelinye iso bese kusakazekela kwelinye iso.

Lesi simo sizoba sibi kakhulu ezinyangeni ezimbalwa ezizayo. Ungase uqale nokulahlekelwa umbono wakho wombala - okusho ukuthi ungase ungaboni eminye imibala noma ungakwazi ukuyihlukanisa. Ukulahlekelwa umbono kuvame ukuzinza zingakapheli izinyanga eziyisithupha kuya onyakeni ngemva kokuqala kwezimpawu zokuqala. Ngalesi sikhathi, ukubona kwabantu abaningi kungaba ngu-20/200 noma okubi kakhulu, okuyizinga lokuba yimpumputhe ngokomthetho. Ungase usenombono wokukhanya, kodwa kuzodingeka ufunde ukuphila nombono ophansi. Cabanga nje, kuzwakala sengathi umhlaba uya ngokuzumayo uyafiphala.

Ziyini izimpawu ze-"Leber's plus"?

Njengoba sishilo ngaphambili, abantu abane-"Leber's plus" bangase babe nezinye izimpawu eziningi ngaphezu kokulahlekelwa umbono. Ezinye zalezi zimpawu zifaka:

• Ukuphazamiseka kokunyakaza , isibonelo ukuthuthumela.
• Izinkinga zokulinganisela kanye nokuxhumana (i-ataxia) . Njengokuzulazula lapho uhamba, noma ukungakwazi ukubamba izinto kahle.
• Izinkinga zokuhambisa inhliziyo , isibonelo, ukushaya kwenhliziyo okungajwayelekile (ama-arrhythmia).
• Izimpawu ze-multiple sclerosis (MS) , njengobuthakathaka bemisipha kanye nokukhathala okukhulu.

Yiziphi izimbangela ze-Leber hereditary optic neuropathy?

I-Leber's inherit optic neuropathy yisifo se-mitochondrial . Yisifo sofuzo osizuza nge-mitochondria emaseli akho. Manje ungase uzibuze ukuthi ayini ama-mitochondria. Kalula nje, ama-mitochondria afana nabakhiqizi bamandla abancane ngaphakathi kwamaseli akho. Athatha umoya-mpilo nezakhamzimba futhi akhiqize amandla adingwa amaseli akho ukuze asebenze. Kufana nejeneretha enika amandla indlu yethu.

Ngakho-ke, ezifweni ze-mitochondrial, le nqubo yokukhiqiza amandla iyaphazamiseka. Ngemuva kwalokho amaseli awatholi amandla awadingayo. Ngenxa yalokhu, amanye amaseli angayeka ukusebenza kahle, noma aze afe.

Uma i-mitochondria yakho ingasebenzi kahle, izingxenye zomzimba wakho ezithembele kakhulu emandleni e-mitochondrial yizo eziqala ukuzwa imiphumela. Eziyinhloko phakathi kwalezi izingxenye zamehlo akho, ikakhulukazi i-optic nerve yakho.. Uma une-mitochondria enesici esanele, lezi zingxenye azitholi amandla eziwadingayo ukuze zisebenze kahle. Yilokhu okwenzekayo esifweni sikaLeber. Umphumela uba ukuthi i-optic nerve yakho iyawohloka kancane kancane (`iyawohloka`) . Lena yindlela olahlekelwa ngayo ukubona kwakho nge-`(LHON)`.

I-LHON izuzwa kanjani njengefa?

I-LHON ibangelwa ukuguquka kwezakhi zofuzo ku-DNA ku-mitochondria yakho. Ngokukhethekile, ukuguquka kwezakhi zofuzo ku-MT-ND1, MT-ND4, MT-ND4L, noma i-MT-ND6 kubangela i-LHON.

Okubalulekile, uthola yonke i-mitochondria yakho kumama wakho, hhayi kuyihlo. Ngakho-ke, omama kuphela abangadlulisela lokhu kuguquka ezinganeni zabo. Ngisho noma ubaba enesifo, ngeke adlulisele lokhu kuguquka ezinganeni zakhe.

Kodwa-ke, akubona bonke abantu abanalolu shintsho lwezakhi zofuzo abazoba nezimpawu ze-`(LHON)`. Ngakho-ke, abanye abantu bangase bangazi nokuthi bathwele lolu shintsho lwezakhi zofuzo. Lokhu kuyinkimbinkimbi kancane, akunjalo? Lokhu kusho ukuthi noma umama enalolu shintsho lwezakhi zofuzo, ingane ingase ibe nezimpawu noma ingabi nazo.

Ingabe zikhona izinto ezingabangela ingozi yokuthuthukisa i-LHON?

Lona futhi umbuzo obaluleke kakhulu. Abacwaningi abakaqondi kahle ukuthi kungani abanye abantu abane-gene mutation beba nezimpawu ze-`(LHON)` kanti abanye abanazo.

Kodwa-ke, ubufakazi obuthile busikisela ukuthi ukucindezeleka ngokomzimba kanye nobuthi bemvelo kungabangela ukuqala kwezimpawu. Lokhu kusho ukuthi lezi zici zangaphandle zengeza ukucindezeleka okwengeziwe ezinhlelweni esezivele zingaphansi kokucindezeleka ngenxa yokuguquka kwezakhi zofuzo. Ngokuhamba kwesikhathi, umqondo uwukuthi lezi zingcindezi zinganqwabelana futhi ekugcineni ziholele ezimpawini.

Nazi ezinye izinto ezingaba yizinto eziyingozi:

• Ukubhema.
• Ukusetshenziswa kotshwala.
• Ukuchayeka ebuthi bemvelo (isibonelo, ezinye izibulala-zinambuzane, amakhemikhali ezimboni).
• Ukuba nezinye izifo zesimiso somzimba.
• Ukucindezeleka okukhulu kwengqondo .

I-LHON ihlolwa kanjani?

Uchwepheshe wakho wokunakekelwa kwamehlo uzokwenza uchungechunge lwezivivinyo zamehlo ezijwayelekile ukuhlola umbono wakho nokuthola imbangela yenkinga. Bangase bangakwazi ukubona lutho olungalungile ngeso lakho noma i-optic nerve ezigabeni zokuqala, okungaphakathi kwezinyanga eziyisithupha zokuqala ngemva kokuqala kwezimpawu. Umonakalo uba sobala kakhulu ngemva kwezinyanga eziyisithupha zokuqala ngemva kokuqala kwezimpawu.

Uma udokotela wakho esola i-LHON, uzoncoma ukuhlolwa kwezakhi zofuzo . Lena yindlela kuphela yokwazi ngokuqinisekile ukuthi unesinye sezinguquko zezakhi zofuzo esikhulume ngazo. Lokhu kuhlolwa kuyindlela kuphela yokuqinisekisa ukuxilongwa.

Ingabe kukhona ukwelashwa noma ukwelashwa okuphelele kwe-LHON?

Ngeshwa, okwamanje alikho ikhambi le-LHON. Umuthi okuwukuphela kwawo ovunyelwe yi-FDA okwamanje uhlobo lokwenziwa lwe-Coenzyme Q10 olubizwa ngokuthi i-Idebenone. Izivivinyo ezilawulwa ngokungahleliwe zibonise ukuthuthuka okuthile ekubukeni kahle kwamehlo kubantu abane-LHON. Eminye imithi efanayo nayo isesigabeni socwaningo.

Abacwaningi bafunda nokwelashwa kwezakhi zofuzo , okungasetshenziswa njengokwelashwa kwe-LHON esikhathini esizayo. Kodwa lokhu kusesesigabeni socwaningo. Ngakho-ke, okwamanje, kunzima ukuthemba ukwelashwa okuphelele. Kodwa-ke, kunezindlela zokuphatha izimpawu nokulawula ukuwohloka okuqhubekayo kombono ngezinga elithile.

Iyini inhloso nge-LHON?

Uma ukulahleka kokubona kwenzeka ngenxa ye-LHON, kungaba ngokushesha, kube nzima, futhi kuvame ukuhlala njalo . Abantu abaningi kufanele bafunde ukuphila nombono ophansi. Ukubona okuphansi kuyizinga eliphakathi kuya kwelikhulu lokukhubazeka kokubona, kodwa akusho ukuthi ubumpumputhe obuphelele. Ukubona okuphansi okuphakathi kuyisilingo sokubona esingama-20/70. Ukubona okuphansi okujulile kuyisilingo sokubona esingama-20/200 noma ngaphansi. Empeleni lolu uhlobo olubanzi kakhulu lokubona olungaba khona ekugcineni.

Ukuthi usesimweni esimaphakathi noma esibucayi salolu hlobo ngokuvamile kuyindaba yenhlanhla. Ukwelashwa kungenza umehluko, kodwa ukuguquka kwezakhi zofuzo onazo kwenza umehluko omkhulu. Abanye abantu abane-LHON ngokungalindelekile baphinde bathole okunye kokubona kwabo ngemva konyaka belahlekelwe umbono. Amathuba alolu hlobo lokululama kokubona ayahlukahluka ngokushintsha kwezakhi zofuzo ezahlukene. Kodwa-ke, noma ngabe uthola umbono, cishe kuzodingeka uphile nombono ophansi.

Ingabe ikhona indlela yokuvimbela i-LHON?

Nakuba abantu abaningi abazuza izakhi zofuzo ezihlobene ne-LHON bengalokothi babe nokulahlekelwa umbono, okwamanje ayikho indlela eyaziwayo yokukuvimbela. Ukuthatha ama-antioxidants nokugwema ubuthi be-neurotoxin njengotshwala nogwayi kunganciphisa ingozi yakho, kodwa lokhu akukafakazelwa.

Khumbula, bonke abesifazane abanalezi zakhi zofuzo bazodlulisela ezinganeni zabo. Ukwelulekwa ngofuzo kungakusiza ukuthi ucabangele le ngozi. Uma othile emndenini wakho enalesi sifo, noma uma uthola ukuthi unalesi shintsho sofuzo, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo ngaphambi kokuqala umndeni.

Kungakhathaliseki ukuthi uyazi ngomlando womndeni we-LHON, noma kuyinto engalindelekile kuwe, ukulahlekelwa umbono wakho ngokuzumayo kungaba yinto eyesabekayo nebuhlungu. Wena nodokotela wakho ningase ningaqondi ukuthi kwenzekani ekuqaleni. Kodwa uma senikwazi ngakho, nizoba nokuningi okufanele nikufunde njengoba nizivumelanisa neqiniso lenu elisha.

Khumbula, awuwedwa kulolu hambo - kunenqwaba yezinsiza ezingakusiza. Kunezinhlangano, imishini, kanye nokusekelwa kwezempilo yengqondo okutholakala kulabo abangaboni kahle.

Okokugcina, izinto okufanele uzikhumbule

Kulungile, ngakho-ke ngithemba ukuthi unombono othile nge-`(LHON)` esikhulume ngayo. Lesi yisihloko esiyinkimbinkimbi kancane, kodwa kubaluleke kakhulu ukuqaphela.

• (LHON) yisifo esidluliselwa ngofuzo esilimaza i-optic nerve futhi sibangele ukulahlekelwa umbono.
• Lokhu kubangelwa ukuguquka kwezakhi zofuzo ku-DNA ye-mitochondrial, ezuzwa kumama kuya enganeni .
• Izimpawu zivame ukuvela esemncane, futhi ukubona kuncipha kancane kancane ngaphandle kobuhlungu.
• Ngaphezu kokubona, ezinye izinkinga zesimiso sezinzwa zingavela esimweni esibizwa ngokuthi "i-Leber plus" .
• Izinto ezinjengokubhema notshwala zingaba yizinto ezibangela ukwakheka kwezimpawu.
• Okwamanje akukho ikhambi elithile, kodwa kunemithi efana ne-'Idebenone' kanye nezindlela zokuzivumelanisa nokubona okuphansi.
• Uma unokungabaza ngalokhu, qiniseka ukuthi ubonana nodokotela wamehlo bese uthola ukuhlolwa kofuzo.
• Ukuphila nalesi simo kungaba nzima, kodwa awuwedwa, thola usizo.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela. Hlala uphilile!

I- Leber i-leber i-leber i-optic neuropathy, i-LHON, ukulahlekelwa umbono, i-optic nerve, ukuguquka kwezakhi zofuzo, izifo ze-mitochondrial, ubumpumputhe obuzuzwe njengefa