Ngaba wakha weva nge-MELAS Syndrome? Mhlawumbi akunjalo. Kuba yimeko engaqhelekanga, oko kuthetha ukuba ayibonakali rhoqo. Kodwa kubaluleke kakhulu ukuyiqonda. Kuba inokuchaphazela inkqubo yethu yemithambo-luvo, izihlunu, kunye nezinye iindawo ezibalulekileyo zomzimba. Namhlanje, siza kuthetha ngayo ngokweenkcukacha, ngokulula, ngendlela onokuyiqonda.
Yintoni i-MELAS Syndrome? Masiyiqonde ngokulula!
Ngamafutshane, i-MELAS Syndrome yimeko eyenzeka xa iindawo ezincinci ngaphakathi kwiiseli zethu ezibizwa ngokuba
yi-mitochondria zingasebenzi kakuhle. Cinga ngale ndlela, ezi mitochondria zifana nezityalo zamandla ezincinci ezivelisa amandla kwiiseli zethu. Xa ezi zityalo zamandla zingasebenzi kakuhle, umzimba wonke uyaziva. Igama elithi MELAS livela kwiimpawu eziphambili zesi sifo:
- I-Mitochondrial encephalomyopathy: Oku kubhekisa kwisifo esichaphazela ingqondo kunye nezihlunu ezinxulumene ne -mitochondria .
- I-Lactic acidosis: Oku kwenzeka xa ikhemikhali ebizwa ngokuba yi -lactic acid iqokelelana emizimbeni yethu. Ngokwesiqhelo, i-lactic acid iveliswa njengemveliso elandelayo xa sisebenzisa iicarbohydrate esizityayo ukwenza amandla, kodwa kwesi sifo, iqokelelana ngokugqithisileyo.
- Iziqendu ezifana nestroke : Le yeyona ixhaphakileyo. Zibonakala zineempawu ezifana nestroke , kodwa aziyostroke ngokwenene. Ezi zinokwenzeka ngokuphindaphindiweyo.
Le
yimeko yemfuza , oko kuthetha ukuba yinto esizalwa nayo. Kodwa iimpawu zihlala ziqala emva kwexesha. Uninzi lwabantu luqala ukubonisa iimpawu xa luneminyaka engama-20 okanye ngaphezulu. Kodwa kwabanye abantu, ezi mpawu zinokubonakala kwangethuba, njengeminyaka emibini emva koko, kwaye kwabanye, nasemva kweminyaka engama-40.
Ixhaphake kangakanani le meko?
I-MELAS Syndrome ayisiyonto ixhaphakileyo. Kuqikelelwa ukuba malunga
nomntu omnye kwabayi-4,000 uchaphazeleka yile meko. Nangona inokuchaphazela nabani na, into ekhethekileyo kukuba
esi sifo sifunyanwa ngumama kuphela. Asidluliselwa kutata siye emntwaneni.
Ziziphi iimpawu ze-MELAS Syndrome?
Njengoko besitshilo ngaphambili, ekubeni i-mitochondria ifumaneka phantse kuzo zonke iiseli emzimbeni wethu, i-MELAS Syndrome inokuchaphazela naliphi na ilungu okanye izicubu. Ngenxa yoko, iimpawu zinokuhluka kakhulu kumntu nomntu. Nangona kunjalo, kubantu abaninzi, iimpawu azikho nzulu ngokwaneleyo ukuba zibangele iimpawu ze-neurologic.
Isifo seswekile kunye nokulahlekelwa kukuva kunokubonwa. Le yingcinga encinci yokucinga ngesi sifo. Iingxaki kunye neempawu ezinxulumene nengqondo (ze-neurological)
Oku kubangelwa ikakhulu ziziqendu ezifana nestroke. Nazi ezinye zezinto ezinokwenzeka:- Kukho utshintsho olukhawulezileyo kwindlela yokuziphatha .
- Ingqondo iyabhideka , ingakwazi ukuqonda okwenzekayo.
- Ukuziva unesizungu okanye ulahlekelwe yibhalansi .
- Inxalenye ethile yomzimba, umzekelo ingalo okanye umlenze, iyakhubazeka (i-paralysis) .
- Kuvakala ngathi kukungaziva okanye ukurhawuzelela kwelinye icala lomzimba.
- Intloko ebuhlungu iyafika idlule, kwaye ngamanye amaxesha kunokubakho utshintsho embonweni okanye kwintetho .
- Ukuqina kuyeza ( ukuxhuzula ) .
- Amagama angacacanga , ubunzima bokuthetha.
- Iingxaki zokubona ziyavela – ukubona kabini okanye ukulahlekelwa ngokupheleleyo kokubona.
- Ukuziva ubuthathaka kwelinye icala lomzimba.
Ukuba ufumana enye okanye ngaphezulu kwezi mpawu ngaxeshanye, musa ukuzityeshela. Kungcono ukufuna ingcebiso kagqirha ngokukhawuleza.
Iimpawu ezichaphazela ezinye iindawo zomzimba
Ukongeza kwiimpawu ezinxulumene nobuchopho, esi sifo sinokuchaphazela nezinye iindawo zomzimba.- Ubude obufutshane – Abanye abantu banokuba bafutshane kunomndilili.
- Ukuphinda-phinda ukuhlanza .
- Intlungu zesisu .
- Ndiziva ndidiniwe kakhulu, ngokungathi andinawo amandla okwenza nantoni na.
- Ukuqaqamba kwemisipha , okuthetha ukuba imisipha iyashukuma.
Kutheni i-MELAS Syndrome isenzeka? Yintoni unobangela?
Isizathu esiphambili soku kukutshintsha okuthile kwiijini zethu (ukwahluka kwezakhi zofuzo) . Uyazi, imiyalelo ekufuneka zonke iiseli zethu zisebenze ikwiDNA yethu. Ukuba kukho naluphi na utshintsho, okanye utshintsho, kule venkile yolwazi ebizwa ngokuba yiDNA, iiseli azikwazi ukusebenza kakuhle. Kwenzeka into efanayo kwiMELAS Syndrome. Into ebalulekileyo kukuba, ukuba uneMELAS Syndrome, uyifumana njengelifa loo mahluko wezakhi zofuzo kumama wakho.Oku kubangelwa kukutshintsha kwe-DNA kwi-mitochondria. Ngubani osengozini enkulu yoku?
Eyona nto iphambili ebangela esi sifo yimbali yosapho . Oku kuthetha ukuba ukuba umama okanye isalamane esikwicala likamama sinaso esi sifo, kukho umngcipheko othile wokuba nabantwana baya kuba naso. Ziziphi iingxaki ezinokubakho ze-MELAS Syndrome?
I-MELAS Syndrome ayisiyonto ebonisa nje iimpawu ezimbalwa ize iyeke. Ingakhokelela kwiingxaki ezingakumbi, oko kukuthi, iingxaki ezongezelelweyo zempilo.- Ingakhokelela ekukhubazekeni kwengqondo kwaye mhlawumbi ne-dementia .
- Isifo seswekile (iDiabetes Mellitus) .
- Iingxaki zokuva , mhlawumbi nokulahlekelwa ngokupheleleyo kukuva.
- Iingxaki zemisipha – izinto ezifana nokuxinana kwemisipha, ukulahlekelwa kukulawula imisipha.
- Iingxaki zokuhamba kunye nokulinganisela .
- Ukulahlekelwa ngumbono .
- Iingxaki zesibindi .
Iingxaki ezinje zenza kube nzima ukuphila nesi sifo. Oogqirha bayixilonga njani le nto?
Ukuba unale mpawu, ugqirha uza kuqala akubuze ngeempawu zakho nokuba kukho nabani na kusapho lwakho okhe waba nazo ezi meko (imbali yezonyango). Emva koko baya kuyalela iimvavanyo ezahlukeneyo. Uvavanyo lokuxilonga:
- Uvavanyo lwemfuza: Yile nto igqibayo ukuba kukho umahluko wemfuza.
- Uvavanyo lokufota: Umzekelo , iskena se-MRI (Magnetic Resonance Imaging) singenziwa ukujonga imeko yengqondo. Oku kunokujonga nomonakalo wengqondo obangelwe zizifo ezifana nestroke.
- Uvavanyo lwe-cerebrospinal fluid, umchamo, kunye negazi: Oku kunokujonga izinto ezifana namanqanaba e-lactic acid.
- I-biopsy yemisipha: Ngamanye amaxesha, ukuba kuyimfuneko, kuthathwa iqhekeza elincinci lemisipha lize lihlolwe phantsi kwe-microscope ukuze kubonwe ukuba kukho naluphi na utshintsho kwi-mitochondria.
Ziziphi iindlela zonyango lwe-MELAS Syndrome?
Ngelishwa, okwangoku akukho nyango lwe-MELAS Syndrome. Oku kuthetha ukuba akukho nyango luhlala luhleli. Nangona kunjalo, kukho unyango olunokunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi . Oogqirha bazama ukunciphisa impembelelo yezi mpawu. Amayeza okuthintela iimpawu:
Ugqirha wakho angacebisa amayeza anjengala:- Amayeza okulwa nokuxhuzula: Nangona kunjalo, amayeza okuxhuzula i -valproate awafanelekanga kwaba baguli, ngoko oogqirha baya kunika elinye iyeza elifanelekileyo.
- I-Coenzyme Q10 okanye i-L-carnitine: Ezi zizinto ezifana neevithamini ezikholelwa ukuba zonyusa imveliso yamandla kwi-mitochondria kwaye zicothisa ukuqhubela phambili kwesi sifo.
- I-L-arginine kunye ne-L-citrulline: Ezi zii-amino acids. Uphando lubonise ukuba zinokunceda ukunciphisa ukuphindaphindeka kweziqendu ezifana nestroke kwaye zinciphise umonakalo eziwenzayo engqondweni.
- I-insulin okanye i-Metformin: Ukuba unesifo seswekile, la mayeza anokunikwa ukulawula isifo.
- Iigonyo: Abantu abane-MELAS Syndrome kufuneka bafumane iigonyo zabo zobuntwana ngokukhawuleza. Kubalulekile ukufumana igonyo le-COVID-19, igonyo lomkhuhlane, kunye negonyo le-pneumonia minyaka le, njengoko usulelo lunokwenza imeko yabo ibe mandundu.
Unyango olungelulo olusebenzisa amayeza:
Ukongeza kumayeza, ugqirha unokucebisa izinto ezifana nezi:- Isiqhelo sokuzilolonga ukuze uqinise izihlunu kwaye ugcine ukusebenza kakuhle.
- Ukuba unengxaki yokuva, ungafumana uncedo kwizixhobo ezifana nee -cochlear implants .
Ukuba ndine-MELAS Syndrome, ndimele ndilindele ntoni?
Ngenxa yokuba esi sisifo esinganyangekiyo, kuya kufuneka ulawule esi sifo ubomi bakho bonke . Akulula, kodwa singenziwa ngeengcebiso zonyango ezifanelekileyo kunye nenkxaso. Ngenxa yokuba esi sifo sinokuchaphazela naliphi na ilungu okanye izicubu zomzimba, unokufuna uncedo lweqela lababoneleli bezempilo . Umzekelo:- Iingcali ze-Neurology
- Iingcali zemfuza
- Iingcali zentliziyo
- Iingcali zonyango lomzimba – zemisebenzi yemisipha kunye namalungu
- Iingcali zonyango emsebenzini – abantu abanceda abantu ukuba benze imisebenzi yemihla ngemihla ngokulula
- Iingcali zonyango lwentetho – kwiingxaki zokuthetha
- Abasebenzi bezentlalo- ngenkxaso yengqondo neyoluntu
Ukongeza, ukujoyina iqela lenkxaso kunokuba luncedo olukhulu kuwe nakusapho lwakho. Kumaqela anjalo, unokwabelana ngamava, ufumane ulwazi, kwaye ufumane amandla eemvakalelo kwabanye abajongene neemeko ezifanayo. Ungaphila ixesha elingakanani une-MELAS Syndrome?
Lo ngumbuzo abantu abaninzi abawubuzayo. Kunzima ukunika impendulo echanekileyo kumbuzo othi "Umntu one-MELAS Syndrome angaphila ixesha elingakanani?". Oku kungenxa yokuba iyahluka kakhulu kumntu nomntu. Abanye abantu baneempawu ezimbalwa, abanye baneempawu ezingaphezulu. Iimpendulo zonyango nazo ziyahluka. Kwanakwintsapho enye, uhlobo lweempawu kunye nesantya sokuqhubeka kwesifo zinokuhluka. Nangona kunjalo, kufuneka siqonde inyani. I-MELAS Syndrome sisifo esinokubulala kwezinye iimeko. Oko kuthetha ukuba sinokusongela ubomi. Yiyo loo nto kubalulekile ukuba nolwazi olufanelekileyo ngesi sifo kwaye usilawule ngeyona ndlela ingcono. Ngaba oku kungathintelwa?
Ngelishwa, okwangoku akukho ndlela yokuthintela i-MELAS Syndrome kuba yimeko yemfuza. Nangona kunjalo, ukuba umntu kusapho unesifo esifana nesi, kubaluleke kakhulu ukuba abo bakulo sapho badibane nomcebisi wemfuza baze bacele ingcebiso. Banokubonelela ngolwazi malunga nomngcipheko wokuba abantwana abazayo bafumane esi sifo kunye namanyathelo anokuthathwa ukuthintela. Ndingazinyamekela njani njengomntu one-MELAS Syndrome?
Ukuba une-MELAS Syndrome, kubaluleke kakhulu ukuba uzinyamekele kakuhle.- Landela imiyalelo kagqirha wakho ngokuchanekileyo. Yiya ekliniki ngexesha, usele amayeza amiselweyo ngokuchanekileyo. Ugqirha usenokukuxelela ukuba umtyelele ubuncinane kanye ngonyaka.
- Uvavanyo oluthile kuya kufuneka lwenziwe minyaka le . Umzekelo:
- Imeko yentliziyo
- Amanqanaba eswekile egazini
- Ukuva
- Amehlo
- Ufanele uyeke ngokupheleleyo ukusela utywala nokutshaya, kuba ezi zinto zingonakalisa ngakumbi i-mitochondria.
- Fumana inaliti yakho yonyaka yomkhuhlane, inaliti ye-pneumonia, kunye neminye imijovo ecetyiswa ngugqirha wakho kwangethuba.
Ndingayibuza yiphi imibuzo ugqirha wam?
Kuqhelekile ukuziva uxinezelekile xa usiva ukuba wena okanye umntwana wakho unesifo se-mitochondrial. Usenokuba awukaze uve nange-mitochondria ngaphambili. Yiyo loo nto kubalulekile ukufumana ulwazi olucacileyo malunga ne-MELAS Syndrome kunye nokuba kuthetha ukuthini ukuba nayo. Buza iqela lakho lezonyango ngayo yonke le nto. Ungaze woyike ukubuza imibuzo. Nazi ezinye zemibuzo onokuzibuza:- "Zithini iimpawu okanye iimpawu ezibonisa imeko engxamisekileyo yezonyango ezayo?"
- "Ukuba kwenzeka into efana naleyo, ndifanele nditsalele ugqirha umnxeba okanye ndiye ngqo kwigumbi likaxakeka?"
- "Ngaba kukho naziphi na izicwangciso zokutya ezikhethekileyo ezinokunceda kule meko?"
- "Ngawaphi amayeza okanye unyango ondicebisa lona? Zithini iziphumo ebezingalindelekanga?"
- "Ngaba intsapho yam kufuneka ifumane iingcebiso ngemfuza?"
- "Ngaba ndifanelekile na ukuthatha inxaxheba kuvavanyo lweklinikhi?"
- "Ungacebisa iqela lenkxaso endinokuthi mna nosapho lwam siye kulo?"
Buza yonke imibuzo oyifunayo kwaye ufumane iimpendulo ozifunayo. Fumana inkxaso kangangoko ufuna koogqirha bakho, kusapho lwakho nakubahlobo bakho. Ukuziva uxhaswe, kwaye ufumana inkxaso, kunokwenza umahluko omkhulu kolu hambo. Izinto ekufuneka sizikhumbule koku (Umyalezo Wokuya Ekhaya)
Kulungile, masiphinde sichaze ezinye zezona ngongoma zibalulekileyo esizixubushileyo namhlanje:- I-MELAS Syndrome yimeko engaqhelekanga kodwa enzulu yemfuza ebangelwa kukungasebenzi kakuhle kwe-mitochondria, iiseli ezivelisa amandla kwiiseli zethu.
- Ichaphazela kakhulu inkqubo yemithambo-luvo kunye nemisipha. Iimpawu eziphambili ziimeko ezifana nestroke kunye nokuqokelelana kwe-lactic acid emzimbeni.
- Esi sifo sinokufunyanwa ngumama ukuya kumntwana.
- Nangona okwangoku kungekho nyango lupheleleyo, kukho unyango lokulawula iimpawu kunye nokuphucula umgangatho wobomi.
- Inkxaso yeqela lezonyango elikhethekileyo, inkxaso yosapho, kunye namaqela enkxaso ibaluleke kakhulu xa uphila nesi sifo.
- Ungaze unqikaze ukubuza imibuzo, ufune ulwazi, kwaye ufumane uncedo olufunayo.
I-MELAS Syndrome inokuba yinto eyoyikisayo xa usiva igama. Nangona kunjalo, eyona nto ibalulekileyo kukwazi kakuhle, ulandele iingcebiso zonyango, kwaye ujongane nale meko ngesimo sengqondo esihle. Hlala ukhumbula ukuba awuwedwa. I-MELAS syndrome, i-mitochondria, izifo zemfuza, i-lactic acidosis, iimpawu ezifana ne-stroke, inkqubo yemithambo-luvo, izifo zemisipha
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