Ngaba umntwana wakho unazo ezi mpawu? Ngaba kufuneka siqaphele iKearns-Sayre Syndrome?

Ngaba umntwana wakho ngamanye amaxesha ubonisa iimpawu ezingaqhelekanga ongaziqondiyo? Mhlawumbi uqaphele into efana nokulahlekelwa yimbono, utshintsho oluncinci ekuhambeni, okanye ukuziva ubuthathaka emzimbeni wakho? Ke le yinto enokuba yinto ebaluleke kakhulu kuwe. Ngamanye amaxesha ezi zinokuba ziimpawu zemeko yezonyango engaqhelekanga, kodwa ekufanele ukwazi. Namhlanje siza kuthetha ngemeko enye enjalo, ebizwa ngokuba yiKearns-Sayre Syndrome.

Yintoni iKearns-Sayre Syndrome?

Ngamafutshane, iKearns-Sayre Syndrome yimeko engaqhelekanga kakhulu echaphazela inkqubo yemithambo-luvo kunye nemisipha. Ikwabizwa ngokuba yi-"KSS" ngamafutshane. Ichaphazela kakhulu amehlo. Ingachaphazela nentliziyo, imisipha, kunye nemisebenzi yengqondo efana nokucinga kunye nenkumbulo. Uninzi lwexesha, ezi mpawu ziqala ukubonakala ngaphambi kokuba umntu abe neminyaka engama-20 ubudala .

Le yi- `(isifo se-mitochondrial)`, nto leyo ethetha ukuba le meko ibangelwa yingxaki kwiindawo ezincinci ezibizwa ngokuba yi-mitochondria ngaphakathi kwiiseli zethu. Okubuhlungu kukuba, akukho nyango lupheleleyo lwale meko okwangoku. Nangona kunjalo, ukufunyanwa kwangoko kunye nonyango olufanelekileyo kunokunceda ukulawula iimpawu kunye nokugcina umgangatho wobomi obuhle. Esi sifo safunyanwa okokuqala ngo-1958 ngoogqirha ababini ababizwa ngokuba nguThomas P. Kearns kunye noGeorge Pomeroy Sayer. Yiyo loo nto safumana eli gama. Yimeko eqhubekayo eqhubeka iba mandundu ngokuhamba kwexesha.

Masifunde kancinci nge-mitochondria, enika imizimba yethu amandla.

Ngoku usenokuba uzibuza ukuba zeziphi ezi mitochondria kwaye kutheni zibaluleke kangaka. Cinga ngayo, i mitochondria ifana neefektri zamandla ezincinci kwiseli nganye emzimbeni wethu (ngaphandle kweeseli ezibomvu zegazi). Njengepetroli emotweni, i-90% yamandla umzimba wethu owudingayo ukuze usebenze yenziwa kwezi mitochondria. Ezi fektri zincinci zithatha izondlo ekutyeni esikutyayo, zisebenzise ioksijini, kwaye ziguqule zibe ngamandla anokusetyenziswa ziiseli zethu.

Ngoko ke, khawucinge ukuba kwenzeka ntoni ukuba ezi mitochondria azisebenzi kakuhle, okanye ukuba zonakele? Emva koko umzimba wethu awufumani amandla owadingayo. Oku kubangela ukuba ukusebenza kweenkqubo ezahlukeneyo emzimbeni, oko kukuthi, iiseli, izicubu, kunye namalungu omzimba, kuphazamiseke. Izifo ze-mitochondria kunzima ukuzixilonga nokunyanga, kuba zichaphazela iindawo ezininzi zomzimba, kungekuphela nje enye. Nangona iimpawu zezi zifo zinokuhluka kumntu nomntu, zihlala ziba mandundu ngokuhamba kwexesha. Ngokukodwa, izihlunu kunye neeseli zemithambo-luvo, ezifuna amandla amaninzi, zezona zonakele kakhulu.

Zingaba yintoni iimpawu zale meko?

Iimpawu ze-Kearns-Sayer syndrome (KSS) zihlala ziqala ngaphambi kokuba zibe neminyaka engama-20 ubudala , ziqale zichaphazele amehlo omabini. Ekuhambeni kwexesha, oku ngamanye amaxesha kunokukhokelela ekubeni ube yimfama.

Iimpawu zokuqala ezichaphazela amehlo:

• Ukulahlekelwa kukubona: Ukubona kuncipha, ingakumbi kwiindawo ezimnyama, njengasebusuku. Oku kungenxa yomonakalo kwi-retina yeliso. Ngokwezonyango, oku kubizwa ngokuba yi-`(pigmentary retinopathy)`.
• Iinkophe ezigobileyo: Iinkophe ezingaphezulu zeliso elinye okanye omabini zigobile ngendlela engalawulekiyo. Oku kubizwa ngokuba yi-`(ptosis)`.
• Ukubuthathaka okanye ukungasebenzi kakuhle kwemisipha yamehlo: Imisipha esetyenziselwa ukuhambisa amehlo iyancipha kancinci kancinci. Oku kubizwa ngokuba yi-"chronic progressive external ophthalmoplegia (CPEO)``. Oku ngamanye amaxesha kunokwenza kube nzima ukujika omabini amehlo aye kwicala elinye.

Ezinye iimpawu ngaphandle kwamehlo:

Le meko ayipheleli nje emehlweni. Ingachaphazela nezinye iindawo ezininzi zomzimba.

• Ukungeva: Ukulahlekelwa kukuva kuncipha kancinci kancinci, kwaye usenokude ube sisithulu ngokupheleleyo.
• Ukuphazamiseka kwengqondo okanye ukulahlekelwa yinkumbulo (i-dementia): Kuba nzima ukucinga, ukuqonda nokufunda. Ngamanye amaxesha, ukulahlekelwa yinkumbulo nako kunokwenzeka kancinci kancinci.
• Isifo sentliziyo: Iziphene zokuhambisa umoya kwintliziyo zinokwenzeka ngenxa yokuvaleka kwemiqondiso yombane yentliziyo. Oku kunokuba yingozi kakhulu.
• Ukungalingani kweehomoni (ukungasebenzi kakuhle kwe-endocrine): Umzekelo, isifo seswekile sinokubakho. Ezinye iingxaki ezinxulumene neehomoni nazo zinokuvela.
• Ukwanda kweproteni kulwelo lwe-cerebrospinal (CSF): Oku kubonwa ngokwenza umbhobho womqolo.
• Iingxaki zezintso.
• Iingxaki zokuhamba nokulinganisela (ataxia): Ukulahlekelwa yibhalansi, ukukhubeka xa uhamba, kunye nokulahlekelwa kukulungelelanisa.
• Ukuxhuzula: Oku kunqabile kakhulu.
• Ubude obufutshane: Akukhulanga bube bude kunesiqhelo.
• Ubuthathaka kwiingalo nasemilenzeni: Amalungu omzimba aziva engenabomi, kwaye izihlunu ziba buthathaka.

Khawuthelekelele ukuba umntwana wakho wayedlala kakhulu, ebaleka edlala. Kodwa kutshanje, uthi akakwazi ukubona kakuhle ebusuku, unengxaki yokugxila kumsebenzi wesikolo, kwaye akaziva enamandla njengoko wayenjalo xa ehamba. Ukuba oku kuyenzeka, eyona nto ibalulekileyo kukufuna ingcebiso kagqirha ngaphandle kokuyityeshela.

Kutheni le nto imeko engaqhelekanga kangaka isenzeka?

I-Kearns-Sayer syndrome (KSS) ibangelwa kukuguquka kwezakhi zofuzo kwi-DNA kwi-mitochondria, okanye kwi-DNA ye-mitochondrial (mtDNA) . Le mtDNA yinxalenye yeseli ethwala izakhi zofuzo ezifunekayo ukuze i-mitochondria isebenze kakuhle. Nangona kunjalo, abaphandi abakaqiniseki ukuba kutheni le nguqu yezakhi zofuzo yenzeka.

Eyona nto ibalulekileyo kukuba, oku akulona ityala likamama okanye likatata.Uninzi lwexesha, olu tshintsho lwemfuza lwenzeka ngelixa umntwana esakhula esibelekweni. Ngamanye amaxesha, ludluliselwa ukusuka kumama ukuya kumntwana (ilifa likamama), kodwa imeko inokwenzeka ngaphandle kwembali yosapho. Uvavanyo lwemfuza lunokunceda ekuqinisekiseni ukuba utshintsho lwemfuza lufunyenwe okanye lwenzeke ngokungacwangciswanga.

Uyixilonga njani le nto kanye kanye?

Enyanisweni, iKearns-Sayer Syndrome (KSS) inokuba nzima ukuyixilonga kuba ichaphazela iinkqubo ezininzi zomzimba. Ungabona iimpawu ezingaqhelekanga kuwe okanye kumntwana wakho. Okanye ugqirha unokubona ezi mpawu ngexesha lokuhlolwa rhoqo kwezonyango. Nangona kunjalo, ukuba ubona naziphi na kwezi mpawu, kungcono ukubona ugqirha ngoko nangoko.

Oogqirha benza oku kulandelayo ukuze baxilonge le meko ``(KSS)``:

• Siza kumamela ngononophelo imbali yakho yezonyango kunye neempawu zakho.
• Uvavanyo olupheleleyo lomzimba lwenziwa.
• Ezinye iimvavanyo: Uvavanyo lomchamo, uvavanyo lwamehlo, uvavanyo lokuva, uvavanyo lwegazi, mhlawumbi nokubhobozwa komqolo/ukubhobozwa kwe-lumbar kungenziwa.
• Ucebisi ngezofuzo kunye novavanyo lwezofuzo: Oku kudla ngokwenziwa ngesampulu yegazi.

Ukongeza, ugqirha wakho usenokuthatha iqhekeza elincinci lezicubu zakho zemisipha aze alihlolisise (i-biopsy yemisipha) . Oku kuya kukhangela into ebizwa ngokuba yi-"ragged-red fibers." Ukuba ezi zikhona, kuthetha ukuba iiseli zemisipha aziqhelekanga ngenxa yesifo se-mitochondrial.

Uvavanyo lokufota olufana nolu lunokwenziwa ukuze kuthintelwe ezinye iimeko:

• `Iskeni ye-CT`
• I-Electroencephalogram (EEG) (uvavanyo olulinganisa umsebenzi wombane wengqondo)
• I-Electroretinogram (ERG) (uvavanyo olulinganisa umsebenzi we-retina)
• `MRI` okanye `spectroscopy (MRS)`

Ukufunyanwa kwesi sifo kwangethuba kubalulekile ukuze unyango luphumelele. Kuphela xa wena nomntwana wakho nifumana unyango olufanelekileyo xa nixilongiwe ngokuchanekileyo.

Ngaba ikhona indlela yokunyanga oku? Iphathwa njani?

Ngelishwa, akukho nyango lweKearns-Sayer Syndrome (KSS). Kodwa ungakhathazeki. Ukuxilongwa kwangoko kunye nonyango oluxhasayo kunokunceda ukunciphisa umngcipheko weengxaki. Ugqirha wakho unokucebisa unyango olunokukunceda wena nomntwana wakho nilawule iimpawu zakhe kwaye niphucule umgangatho wobomi bakhe.

Uncedo oluvela kwiqela loogqirha abaziingcali

Ngenxa yokuba le meko ichaphazela amalungu amaninzi omzimba, ifuna inkxaso yeqela loogqirha abanolwazi kwiinkalo ezahlukeneyo. Iqela lakho lonyango lingabandakanya:

• Ingcali yamehlo
• Ingcali yokuva `(ingcali ye-audiologist)`
• Ingcali yentliziyo
• Ingcali ye-Endocrinologist
• Ingcali yemfuza
• Ingcali yezifo zengqondo
• Ingcali yezonyango okanye ingcali yezonyango
• Ingcali yezempilo yengqondo (umz. `ingcali ye-neuropsychiatrist`)

Zithini iindlela zonyango?

Injongo ephambili yonyango kukulawula iimpawu kunye nokunciphisa iingxaki ezinokubakho njengoko imeko isiya isiba mandundu kancinci kancinci.

• Unyango lomzimba kunye nonyango lomsebenzi: Ezi zinceda ukugcina ulungelelwaniso, amandla, kunye nokulinganisela. Zikwakunceda ukuba wenze imisebenzi yemihla ngemihla ngokuzimeleyo.
• Amayeza: Ugqirha wakho angakunika amayeza esifo sentliziyo, iingxaki zehomoni, okanye iimpawu zengqondo (umz., ukudakumba).

Ukongeza, ugqirha unokucebisa izinto ezifana nezi:

• Izixhobo zokuncedisa ukuva okanye izixhobo zokufakelwa i-cochlear (ukuba ziyafuneka kwabanye abantu)
• Utyando lokufaka iliso okanye iliso (blepharoplasty) lunokunceda ukugcina amehlo evulekile xa iliso ligobile.
• Isongezelelo se-folic acid ukuba inqanaba le-folate kwi-cerebrospinal fluid (CSF) liphantsi.
• Unyango lokutshintshwa kwamahomoni ngenxa yokusilela kwamahomoni.
• I-insulin okanye amanye amayeza esifo seswekile.
• Ukufakelwa kwesixhobo sokuncedisa intliziyo ukuba kukho iingxaki ezisongela ubomi kwiindlela zombane zentliziyo.

Ukuhlolwa rhoqo kwezonyango kubalulekile kumntu one- (KSS) kuba iimpawu ezintsha zinokuvela ngokuhamba kwexesha njengoko iinkqubo ezahlukeneyo zomzimba zilahlekelwa kukusebenza. Thetha nogqirha wakho rhoqo malunga neendlela ezinokukunceda uhlale usempilweni kangangoko, ixesha elide kangangoko.

Ubomi bunjani kule meko? Liza kuba njani ikamva?

Imbono yomntu one-Kearns-Sayer syndrome (KSS) ixhomekeke kubukhali beempawu zakhe. Nangona kunjalo, abantu abaninzi baphila nale meko amashumi eminyaka. Unyango oluxhasayo lunokukunceda wena nomntwana wakho niphile ubomi obude nobunempilo. Musa ukuphelelwa lithemba.

Okokugqibela, ezona zinto zibalulekileyo ekufuneka uzikhumbule

Kulungile, ngoko ke ngokwento esithethe ngayo, ndiyathemba ukuba ufumene ulwazi oluthile ngeKearns-Sayre Syndrome. Yimeko enzima, engaqhelekanga. Kodwa khumbula:

• Ukufunyanwa kwangoko kubaluleke kakhulu. Ukuba uneempawu ezingaqhelekanga, ingakumbi ukuba ziqala usemncinci, ezinje ngobuthathaka bamehlo, intliziyo, okanye izihlunu, musa ukulibazisa ukufuna ingcebiso kagqirha.
• Le yimeko yemfuza, ayilotyala lamntu. Ngoko ke ungazibeki tyala.
• Nangona kungekho nyango lupheleleyo loku, kukho unyango oluninzi olunokulawula iimpawu nokuphucula umgangatho wobomi .
• Sebenzisana neqela loogqirha abaziingcali ukuze uyile isicwangciso esithile sonyango. Landela imiyalelo kagqirha wakho rhoqo.
• Nangona le yimeko enzima, awuwedwa. Ngenkxaso nolwazi olufanelekileyo, ungadlula kule meko.

Ukuba wena okanye umntu omaziyo unale ngxaki, ndiyathemba ukuba olu lwazi luza kubanceda naye. Hlala unolwazi, hlala usempilweni!

Isifo sikaKearns -Sayre, i-mitochondria, utshintsho lwemfuza, izifo zamehlo, izifo zentliziyo, ubuthathaka bemisipha, izifo zemithambo-luvo