Wake wezwa nge-MELAS Syndrome? Mhlawumbe akunjalo. Ngoba kuyisimo esingavamile, okusho ukuthi asibonakali njalo. Kodwa kubaluleke kakhulu ukuqaphela. Ngoba singathinta isimiso sethu sezinzwa, imisipha, nezinye izingxenye ezibalulekile zomzimba. Namuhla, sizoxoxa ngakho ngokuningiliziwe, kalula, ngendlela ongayiqonda.
Iyini i-MELAS Syndrome? Masiyiqonde kalula!
Kalula nje, i-MELAS Syndrome yisimo esenzeka lapho izingxenye ezincane ngaphakathi kwamaseli ethu ezibizwa ngokuthi
i-mitochondria zingasebenzi kahle. Cabanga ngakho njengalezi zitshalo zamandla ezincane ezenza amandla amaseli ethu. Uma lezi zitshalo zamandla zingasebenzi kahle, wonke umzimba uyakuzwa lokho. Igama elithi MELAS lakhiwa ngokuhlanganisa izici eziningana ezibalulekile zalesi sifo:
- I-Mitochondrial encephalomyopathy: Lokhu kubhekisela esifweni esithinta ubuchopho nemisipha ehlobene ne -mitochondria .
- I-Lactic acidosis: Lokhu kwenzeka lapho ikhemikhali ebizwa ngokuthi i-lactic acid inqwabelana emzimbeni wethu. Ngokuvamile, i-lactic acid ikhiqizwa njengomkhiqizo olandelayo lapho sisebenzisa ama-carbohydrate esiwadlayo ukwenza amandla, kodwa kulesi sifo, inqwabelana ngokweqile.
- Iziqephu ezifana ne-stroke : Lesi yisona esivame kakhulu. Kubonakala sengathi zinezimpawu ezifana ne-stroke , kodwa empeleni azizona i-stroke. Lezi zingavela ngokuphindaphindiwe.
Lesi yisimo
sofuzo , okusho ukuthi yinto esizalwa nayo. Kodwa izimpawu zivame ukuqala kamuva. Iningi labantu liqala ukukhombisa izimpawu lapho selineminyaka engama-20 noma ngaphezulu. Kodwa kwabanye abantu, lezi zimpawu zingavela ngisho nangaphambi kwesikhathi, njengeminyaka emibili kamuva, kanti kwabanye, ngisho nangemva kweminyaka engama-40.
Sivame kangakanani lesi simo?
I-MELAS Syndrome ayisona isimo esivamile kakhulu. Kulinganiselwa ukuthi cishe
umuntu oyedwa kwabangu-4,000 uthintekile yilesi simo. Nakuba singathinta noma ubani, into ekhethekile ukuthi
lesi sifo sizuzwa kumama kuphela. Asidluliselwa kusuka kubaba kuya enganeni.
Ziyini izimpawu ze-MELAS Syndrome?
Njengoba sishilo ngaphambili, njengoba i-mitochondria itholakala cishe kuwo wonke amaseli emzimbeni wethu, i-MELAS Syndrome ingathinta noma yisiphi isitho noma izicubu. Ngenxa yalokho, izimpawu zingahluka kakhulu kumuntu nomuntu. Kodwa-ke, kubantu abaningi, izimpawu azizimbi ngokwanele ukubangela izimpawu ze-neurologic.
Isifo sikashukela kanye nokulahlekelwa ukuzwa kungabonakala. Lokhu futhi kuyinkomba encane yokucabanga ngalesi sifo. Izinkinga nezimpawu ezihlobene nobuchopho (zezinzwa)
Lokhu kubangelwa kakhulu yiziqephu ezifana nokuhlaselwa yisifo sohlangothi. Nazi ezinye izinto ezingase zenzeke:- Kukhona izinguquko ezisheshayo ekuziphatheni .
- Ingqondo iyadideka , ingakwazi ukuqonda okwenzekayo.
- Ukuzizwa unesizungu noma ulahlekelwa yibhalansi .
- Ingxenye ethile yomzimba, isibonelo ingalo noma umlenze, iyakhubazeka (ukukhubazeka) .
- Kuzwakala sengathi kuzwakala sengathi kukhona ukungakhululeki noma ukuqaqamba kolunye uhlangothi lomzimba.
- Ikhanda liyabuya lidlule, futhi ngezinye izikhathi kungaba nezinguquko embonweni noma enkulumweni .
- Ukuqina kuyeza ( ukuxhuzula ) .
- Amagama angacacile , ubunzima bokukhuluma.
- Izinkinga zokubona ziyavela - ukubona kabili noma ukulahlekelwa umbono ngokuphelele.
- Ukuzizwa ubuthakathaka ohlangothini olulodwa lomzimba.
Uma uhlangabezana nesinye noma ngaphezulu salezi zimpawu ngesikhathi esisodwa, ungasinaki. Kungcono ukufuna iseluleko sezokwelapha ngokushesha.
Izimpawu ezithinta ezinye izingxenye zomzimba
Ngaphezu kwezimpawu ezihlobene nobuchopho, lesi sifo singathinta nezinye izingxenye zomzimba.- Ubude obufushane - Abanye abantu bangase babe bafushane kunokuvamile.
- Iziqephu zokuhlanza eziphindaphindwayo .
- Ubuhlungu besisu .
- Ngizizwa ngikhathele kakhulu, sengathi anginawo amandla okwenza noma yini.
- Ukuqaqamba kwemisipha , okuwumuzwa wokuthi imisipha iyanyakaza.
Kungani kwenzeka i-MELAS Syndrome? Iyini imbangela?
Isizathu esiyinhloko salokhu izinguquko ezithile ezakhiweni zethu zofuzo (ukwehluka kwezakhi zofuzo) . Uyazi, imiyalelo okudingeka wonke amangqamuzana ethu asebenze ngayo iku -DNA yethu. Uma kukhona ushintsho, noma ukuguquka kwezakhi zofuzo, kulesi sitolo solwazi esibizwa ngokuthi i-DNA, amangqamuzana awakwazi ukusebenza kahle. Kwenzeka into efanayo ku-MELAS Syndrome. Into ebalulekile ukuthi, uma une-MELAS Syndrome, uthola leyo nguquko yezakhi zofuzo kumama wakho.Lokhu kubangelwa ushintsho ku-DNA ku-mitochondria. Ubani osengozini enkulu yalokhu?
Ingozi enkulu yalesi sifo umlando womndeni . Lokhu kusho ukuthi uma umama noma isihlobo esiseceleni kukamama sinalesi sifo, kunengozi ethile yokuthi nezingane zizosithola. Yiziphi izinkinga ezingaba khona ze-MELAS Syndrome?
I-MELAS Syndrome akuyona into ekhombisa izimpawu ezimbalwa bese iyaphela. Ingaholela ezinkingeni ezengeziwe, okungukuthi, ezinkingeni ezengeziwe zempilo.- Kungabangela ukukhubazeka kwengqondo futhi mhlawumbe nokuwohloka komqondo .
- Isifo Sikashukela (i-Diabetes Mellitus) .
- Izinkinga zokuzwa , mhlawumbe ngisho nokulahlekelwa ukuzwa ngokuphelele.
- Izinkinga zemisipha - izinto ezifana nokuqaqamba kwemisipha, ukulahlekelwa ukulawula imisipha.
- Izinkinga zokuhamba kanye nokulinganisela .
- Ukulahlekelwa umbono .
- Izinkinga zesibindi .
Izinkinga ezinjengalezi zenza ukuphila nalesi sifo kube yinselele. Odokotela bakuthola kanjani lokhu?
Uma unalezi zimpawu, udokotela uzoqala akubuze ngezimpawu zakho nokuthi ngabe kukhona yini emndenini wakho oke waba nalezi zimo (umlando wezokwelapha). Bese beyaleza ukuhlolwa okuhlukahlukene. Ukuhlolwa kokuxilonga:
- Ukuhlolwa kwezakhi zofuzo: Yilokhu okunquma ngqo ukuthi kukhona yini ukwehluka kwezakhi zofuzo.
- Ukuhlolwa kwezithombe: Isibonelo , ukuskena kwe-MRI (Magnetic Resonance Imaging) kungenziwa ukuze kubhekwe isimo sobuchopho. Lokhu kungahlola nomonakalo wobuchopho obangelwa yizimo ezifana nesifo sohlangothi.
- Ukuhlolwa koketshezi lomgogodla, umchamo, kanye negazi: Lokhu kungahlola izinto ezifana namazinga e-lactic acid.
- I-biopsy yemisipha: Ngezinye izikhathi, uma kudingeka, kuthathwa ingxenye encane yemisipha bese ihlolwa ngaphansi kwe-microscope ukuze kubonakale ukuthi kukhona yini izinguquko ku-mitochondria.
Yiziphi izindlela zokwelapha i-MELAS Syndrome?
Ngeshwa, okwamanje akukho ukwelashwa kwe-MELAS Syndrome. Lokhu kusho ukuthi akukho ukwelashwa okuhlala njalo. Kodwa-ke, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi zithuthukise ikhwalithi yokuphila . Odokotela bazama ukunciphisa umthelela walezi zimpawu. Imithi yezimpawu:
Udokotela wakho angase asikisele imithi efana nale:- Imithi yokuvimbela ukuquleka: Kodwa-ke, imithi yokuquleka i-valproate ayifanele lezi ziguli, ngakho odokotela bazokunikeza omunye umuthi ofanele.
- I-Coenzyme Q10 noma i-L-carnitine: Lezi yizinto ezifana namavithamini okukholelwa ukuthi zandisa ukukhiqizwa kwamandla ku-mitochondria futhi zinciphise ukuqhubeka kwesifo.
- I-L-arginine kanye ne-L-citrulline: Lawa angama-amino acid. Ucwaningo lukhombisile ukuthi angasiza ekunciphiseni ukuvama kwezigameko ezifana nokuhlaselwa yisifo sohlangothi futhi anciphise umonakalo eziwubangela ebuchosheni.
- I-insulin noma i-Metformin: Uma unesifo sikashukela, le mithi inganikezwa ukuze isilawule.
- Imijovo: Abantu abane-MELAS Syndrome kufanele bathole imijovo yabo yobuntwana ngokushesha okukhulu. Kubalulekile futhi ukuthola umuthi wokugomela i-COVID-19, umuthi wokugomela umkhuhlane, kanye nomuthi wokugomela i-pneumonia minyaka yonke, njengoba ukutheleleka kungenza isimo sabo sibe sibi kakhulu.
Ukwelashwa okungeyona imithi:
Ngaphezu kwemithi, udokotela angase asikisele izinto ezifana nalezi:- Isimiso sokuzivivinya esifanele sokuqinisa imisipha nokugcina ukusebenza kahle.
- Uma unenkinga yokuzwa, ungathola usizo kumadivayisi afana ne -cochlear implants .
Uma ngine-MELAS Syndrome, yini okufanele ngiyilindele?
Ngenxa yokuthi lesi yisifo esingelapheki, kuzodingeka uphathe lesi simo impilo yakho yonke . Akulula, kodwa kungenziwa ngeseluleko sezokwelapha esifanele kanye nokusekelwa. Ngenxa yokuthi lesi sifo singathinta noma yisiphi isitho noma izicubu emzimbeni, ungadinga usizo lwethimba labahlinzeki bezempilo . Isibonelo:- Odokotela bezinzwa
- Izazi zezakhi zofuzo
- Odokotela benhliziyo
- Abelaphi bomzimba – bokusebenza kwemisipha namalunga
- Abelaphi bomsebenzi – abantu abasiza abantu ukwenza imisebenzi yansuku zonke kalula
- Abelaphi benkulumo - ngezinkinga zokukhuluma
- Izisebenzi zezenhlalakahle – zokusekela ngokwengqondo nangokwenhlalo
Ngaphezu kwalokho, ukujoyina iqembu lokusekelana kungaba usizo olukhulu kuwe nomndeni wakho. Kula maqembu, ungabelana ngolwazi, uthole ulwazi, futhi uthole amandla ngokomzwelo kwabanye ababhekene nezimo ezifanayo. Ungaphila isikhathi esingakanani ne-MELAS Syndrome?
Lona umbuzo abantu abaningi abawubuzayo. Kunzima ukunikeza impendulo eqondile yombuzo othi "Umuntu one-MELAS Syndrome angaphila isikhathi esingakanani?". Lokhu kungenxa yokuthi kuyahlukahluka kakhulu kumuntu nomuntu. Abanye abantu banezimpawu ezimbalwa, abanye banezimpawu eziningi. Izimpendulo zokwelashwa nazo ziyahlukahluka. Ngisho nangaphakathi komndeni ofanayo, uhlobo lwezimpawu kanye nesivinini sokuqhubeka kwesifo kungahluka. Kodwa-ke, sidinga ukuqonda iqiniso. I-MELAS Syndrome yisifo esingaba yingozi kwezinye izimo. Lokho kusho ukuthi singasongela ngisho nokuphila. Yingakho kubalulekile ukuba nolwazi oluhle ngalesi sifo futhi usiphathe kahle ngangokunokwenzeka. Ingabe lokhu kungavinjelwa?
Ngeshwa, okwamanje ayikho indlela yokuvimbela i-MELAS Syndrome ngoba iyisimo sofuzo. Kodwa-ke, uma othile emndenini enesifo sofuzo esifana nalesi, kubaluleke kakhulu kulabo abakulowo mndeni ukuhlangana nomeluleki wezakhi zofuzo futhi bafune iseluleko. Banganikeza ulwazi mayelana nengozi yokuthi izingane zesikhathi esizayo zizuze lesi sifo kanye nezinyathelo ezingathathwa ukuze zisivimbele. Ngingazinakekela kanjani njengomuntu one-MELAS Syndrome?
Uma une-MELAS Syndrome, kubaluleke kakhulu ukuthi uzinakekele kahle.- Landela imiyalelo kadokotela wakho ngqo. Yiya emtholampilo ngesikhathi, thatha imithi oyinikezwe udokotela ngqo. Udokotela cishe uzokutshela ukuthi umvakashele okungenani kanye ngonyaka.
- Ukuhlolwa okuthile kuzodingeka kwenziwe minyaka yonke . Isibonelo:
- Isimo senhliziyo
- Amazinga kashukela egazini
- Ukuzwa
- Amehlo
- Kufanele uyeke ngokuphelele ukuphuza utshwala nokubhema, ngoba lezi zinto zingalimaza kakhulu i-mitochondria.
- Thola umjovo wakho wonyaka womkhuhlane, umjovo we-pneumonia, kanye neminye imijovo enconywe udokotela wakho ngesikhathi.
Yimiphi imibuzo okufanele ngiyibuze udokotela wami?
Kuvamile ukuzizwa ukhungathekile uma uzwa ukuthi wena noma ingane yakho inesifo se-mitochondrial. Kungenzeka ukuthi awukaze uzwe nge-mitochondria ngaphambili. Yingakho kubalulekile ukuthola ulwazi olucacile mayelana ne-MELAS Syndrome nokuthi kusho ukuthini ukuba nayo. Buza ithimba lakho lezokwelapha ngakho konke lokhu. Ungesabi ukubuza imibuzo. Nansi eminye imibuzo ongayibuza:- "Yiziphi izimpawu noma izimpawu ezibonisa isimo esiphuthumayo sezokwelapha esisondelayo?"
- "Uma kwenzeka into efana naleyo, kufanele ngishayele udokotela ucingo noma ngiye ngqo egumbini lezimo eziphuthumayo?"
- "Ingabe kukhona izinhlelo zokudla ezikhethekile ezingasiza ngalesi simo?"
- "Yimiphi imithi noma izindlela zokwelapha ongincomayo? Yimiphi imiphumela emibi engaba khona?"
- "Ingabe umndeni wami udinga ukwelulekwa ngofuzo?"
- "Ingabe ngiyafaneleka ukubamba iqhaza ezivivinyweni zemitholampilo?"
- "Ungasikisela iqembu lokusekelana mina nomndeni wami esingaya kulo?"
Buza yonke imibuzo oyidingayo bese uthola izimpendulo ozidingayo. Thola ukwesekwa okuningi ngangokunokwenzeka kodokotela bakho, umndeni, kanye nabangani. Ukuzizwa usekelwa, futhi empeleni uthola ukwesekwa, kungenza umehluko omkhulu kulolu hambo. Izinto okudingeka sizikhumbule kulokhu (Umyalezo Ofanele Uwuthathe Ekhaya)
Kulungile, ake siphinde sixoxe ngamanye amaphuzu abaluleke kakhulu esixoxe ngawo namuhla:- I-MELAS Syndrome yisimo esingavamile kodwa esibi kakhulu sezakhi zofuzo esibangelwa ukungasebenzi kahle kwe-mitochondria, amaseli akhiqiza amandla emaseli ethu.
- Kuthinta kakhulu uhlelo lwezinzwa kanye nemisipha. Izimpawu eziyinhloko yizimo ezifana nohlangothi kanye nokuqongelela kwe-lactic acid emzimbeni.
- Lesi sifo singadluliselwa kumama siye enganeni.
- Nakuba okwamanje kungekho ukwelashwa okuphelele, kunezindlela zokwelapha zokuphatha izimpawu nokuthuthukisa ikhwalithi yokuphila.
- Ukusekelwa yithimba lezokwelapha elingochwepheshe, ukwesekwa komndeni, kanye namaqembu okusekela kubaluleke kakhulu uma uphila nalesi sifo.
- Ungalokothi unqikaze ukubuza imibuzo, ukufuna ulwazi, nokuthola usizo oludingayo.
I-MELAS Syndrome ingaba yinto eyesabekayo uma uzwa igama. Kodwa-ke, into ebaluleke kakhulu ukuba nolwazi oluphelele, ulandele iseluleko sezokwelapha, futhi ubhekane nalesi simo ngesimo sengqondo esihle. Khumbula njalo ukuthi awuwedwa. I-MELAS syndrome, i-mitochondria, izifo zofuzo, i-lactic acidosis, izimpawu ezifana nohlangothi, isimiso sezinzwa, izifo zemisipha
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