Ingabe ingane yakho inalezi zimpawu? Ingabe kufanele siqaphele i-Kearns-Sayre Syndrome?

Ingabe ingane yakho ngezinye izikhathi ibonisa izimpawu ezingavamile ongaziqondi? Mhlawumbe uqaphele okuthile okufana nokulahlekelwa umbono, ushintsho oluncane ekuhambeni, noma umuzwa wobuthakathaka emzimbeni wakho? Khona-ke lokhu kuyinto engaba yinto ebaluleke kakhulu kuwe. Ngezinye izikhathi lokhu kungaba izimpawu zesimo sezokwelapha esingavamile kakhulu, kodwa okufanele ukwazi ngaso. Namuhla sizokhuluma ngesimo esisodwa esinjalo, esibizwa ngokuthi i-Kearns-Sayre Syndrome.

Iyini i-Kearns-Sayre Syndrome?

Kalula nje, i-Kearns-Sayre Syndrome iyisimo esingavamile kakhulu esithinta uhlelo lwezinzwa kanye nemisipha. Sibizwa nangokuthi "i-KSS" ngamafuphi. Sithinta kakhulu amehlo. Singathinta nenhliziyo, imisipha, kanye nemisebenzi yobuchopho njengokucabanga kanye nenkumbulo. Esikhathini esiningi, lezi zimpawu ziqala ukuvela ngaphambi kweminyaka engama-20 .

Lokhu kuyisifo se-mitochondrial (isifo se-mitochondrial) okusho ukuthi lesi simo sibangelwa inkinga yezingxenye ezincane ezibizwa ngokuthi i-mitochondria ngaphakathi kwamaseli ethu. Ngokudabukisayo, akukho ukwelashwa okuphelele kwalokhu okwamanje. Kodwa-ke, ukutholwa kusenesikhathi kanye nokwelashwa okufanele kungasiza ekulawuleni izimpawu futhi kulondoloze izinga elihle lokuphila. Lesi sifo saqala ukutholwa ngo-1958 ngodokotela ababili abangoThomas P. Kearns noGeorge Pomeroy Sayer. Yingakho sathola leli gama. Yisimo esiqhubekayo esiba sibi kancane kancane ngokuhamba kwesikhathi.

Ake sifunde kancane nge-mitochondria, enikeza imizimba yethu amandla.

Manje ungase uzibuze ukuthi ziyini lezi mitochondria nokuthi kungani zibaluleke kangaka. Cabanga ngakho, i-mitochondria ifana nezimboni ezincane zamandla kuwo wonke amaseli emzimbeni wethu (ngaphandle kwamangqamuzana abomvu egazi). Njengophethiloli emotweni, u-90% wamandla umzimba wethu owadingayo ukuze usebenze wenziwa kulezi mitochondria. Lezi zimboni ezincane zithatha izakhamzimba ekudleni esikudlayo, zisebenzise umoya-mpilo, bese ziguqula zibe amandla angasetshenziswa amaseli ethu.

Ngakho-ke, cabanga ukuthi kwenzekani uma la ma-mitochondria engasebenzi kahle, noma uma onakele? Khona-ke umzimba wethu awutholi amandla owadingayo. Lokhu kubangela ukuthi ukusebenza kwezinhlelo ezahlukene emzimbeni, okungukuthi, amaseli, izicubu, kanye nezitho zomzimba, kuphazamiseke. Izifo ze-mitochondria kunzima ukuzixilonga nokwelapha, ngoba zithinta izingxenye eziningi zomzimba, hhayi eyodwa kuphela. Nakuba izimpawu zalezi zifo zingahluka kumuntu nomuntu, zivame ukuba zimbi kakhulu ngokuhamba kwesikhathi. Ikakhulukazi, imisipha namaseli ezinzwa, adinga amandla amaningi, yiwona owonakele kakhulu.

Yiziphi izimpawu zalesi simo?

Izimpawu ze-Kearns-Sayer syndrome (KSS) zivame ukuqala ngaphambi kweminyaka engama-20 , ziqale zithinte amehlo womabili. Ngokuhamba kwesikhathi, lokhu ngezinye izikhathi kungaholela ebumpumputheni.

Izimpawu zokuqala ezithinta amehlo:

• Ukulahlekelwa umbono: Ukubona kuncipha, ikakhulukazi ezindaweni ezimnyama, njengasebusuku. Lokhu kungenxa yomonakalo ku-retina yeso. Ngokwezokwelapha, lokhu kubizwa ngokuthi `(pigmentary retinopathy)`.
• Amajwabu amehlo alengayo: Amajwabu amehlo aphezulu kwelinye noma womabili amehlo alenga ngokungalawuleki. Lokhu kubizwa ngokuthi `(ptosis)`.
• Ubuthakathaka noma ukungasebenzi kahle kwemisipha yamehlo: Imisipha esetshenziselwa ukuhambisa amehlo iyancipha kancane kancane. Lokhu kubizwa ngokuthi "i-chronic progressive external ophthalmoplegia (CPEO)``. Lokhu ngezinye izikhathi kungenza kube nzima ukuphendulela womabili amehlo ohlangothini olufanayo.

Ezinye izimpawu ngaphandle kwamehlo:

Lesi simo asigcini nje emehlweni. Singathinta ezinye izingxenye eziningi zomzimba.

• Ukungezwa: Ukulahlekelwa ukuzwa kuncipha kancane kancane, futhi ungase ube yisithulu ngokuphelele.
• Ukuphazamiseka kwengqondo noma ukulahlekelwa yinkumbulo (dementia): Kuba nzima ukucabanga, ukuqonda nokufunda. Ngezinye izikhathi, ukulahlekelwa yinkumbulo nakho kungenzeka kancane kancane.
• Isifo senhliziyo: Ukuphazamiseka kokuhambisa umoya enhliziyweni kungenzeka ngenxa yokuvaleka kwezimpawu zikagesi zenhliziyo. Lokhu kungaba yingozi kakhulu.
• Ukungalingani kwama-hormone (ukungasebenzi kahle kwe-endocrine): Isibonelo, isifo sikashukela singaba khona. Ezinye izinkinga ezihlobene nama-hormone nazo zingavela.
• Ukwanda kwamaprotheni ku-cerebrospinal fluid (CSF): Lokhu kutholakala ngokwenza ukumpompa komgogodla.
• Izinkinga zezinso.
• Izinkinga ngokuhamba nokulinganisela (i-ataxia): Ukulahlekelwa ibhalansi, ukukhubeka ngenkathi uhamba, kanye nokulahlekelwa ukuhambisana.
• Ukuquleka: Lokhu akuvamile kakhulu.
• Ubude obufushane: Ukungakhuli isikhathi eside kunokujwayelekile.
• Ubuthakathaka ezingalweni nasemilenzeni: Izitho zomzimba zizizwa zingenampilo, futhi imisipha iba buthakathaka.

Cabanga ukuthi ingane yakho yayidlala kakhulu, igijima futhi idlala. Kodwa muva nje, ithi ayikwazi ukubona kahle ebusuku, inenkinga yokugxila emsebenzini wesikole, futhi ayizizwa inamandla njengoba yayinjalo lapho ihamba. Uma lokhu kwenzeka, into ebaluleke kakhulu ukufuna iseluleko sezokwelapha ngaphandle kokusishaya indiva.

Kungani kwenzeka isimo esingavamile kangaka?

I-Kearns-Sayer syndrome (KSS) ibangelwa ukuguquka kwezakhi zofuzo ku-DNA ku-mitochondria, noma i-mitochondrial DNA (mtDNA) . Le mtDNA yingxenye yeseli ephethe izakhi zofuzo ezidingekayo ukuze i-mitochondria isebenze kahle. Kodwa-ke, abacwaningi abakaqiniseki ukuthi kungani lokhu kuguquka kwezakhi zofuzo kwenzeka.

Into ebaluleke kakhulu ukuthi, lokhu akulona iphutha likamama noma likababa.Esikhathini esiningi, lezi zinguquko zofuzo zenzeka ngesikhathi umntwana esakhula esibelethweni. Ngezinye izikhathi, zidluliselwa kusuka kumama kuya enganeni (ifa likamama), kodwa lesi simo singavela ngaphandle komlando womndeni. Ukuhlolwa kofuzo kungasiza ekunqumeni ukuthi ukuguquka kofuzo kuzuzwe njengefa noma kwenzeke ngokungahleliwe.

Ukuthola kanjani lokhu ngqo?

Empeleni, i-Kearns-Sayer Syndrome (KSS) ingaba nzima ukuyixilonga ngoba ithinta izinhlelo eziningi zomzimba. Ungase uqaphele izimpawu ezingavamile kuwe noma enganeni yakho. Noma udokotela angase aqaphele lezi zimpawu ngesikhathi sokuhlolwa okuvamile kwezokwelapha. Kodwa-ke, uma ubona noma yiziphi zalezi zimpawu, kungcono ukubona udokotela ngokushesha.

Odokotela benza okulandelayo ukuze baxilonge lesi simo esithi "(KSS)``:

• Sizolalela ngokucophelela umlando wakho wezokwelapha kanye nezimpawu.
• Kuhlolwa umzimba ngokuphelele.
• Ezinye izivivinyo: Ukuhlolwa komchamo, ukuhlolwa kwamehlo, ukuhlolwa kokuzwa, ukuhlolwa kwegazi, kanye nokubhobozwa komgogodla/umgogodla kungenziwa.
• Ukwelulekwa ngofuzo kanye nokuhlolwa kofuzo: Lokhu kuvame ukwenziwa ngesampula yegazi.

Ngaphezu kwalokho, udokotela wakho angase athathe ingxenye encane yezicubu zakho zemisipha ayihlole (i-biopsy yemisipha) . Lokhu kuzobheka okuthile okubizwa ngokuthi "imicu ebomvu egqagqene." Uma lezi zikhona, kusho ukuthi amangqamuzana emisipha awavamile ngenxa yesifo se-mitochondrial.

Ukuhlolwa kwezithombe okufana nalokhu kungenziwa futhi ukuze kunqunywe ezinye izimo:

• `I-CT scan`
• I-Electroencephalogram (EEG) (ukuhlolwa okulinganisa umsebenzi kagesi wobuchopho)
• I-Electroretinogram (ERG) (ukuhlolwa okulinganisa umsebenzi we-retina)
• `I-MRI` noma `i-spectroscopy (MRS)`

Ukutholwa kwalesi sifo kusenesikhathi kubalulekile ukuze ukwelashwa kuphumelele. Kuphela ngokuxilongwa okunembile lapho wena nengane yakho ningathola khona ukwelashwa okufanele.

Ingabe ikhona indlela yokwelapha lokhu? Kuphathwa kanjani?

Ngeshwa, ayikho ikhambi le-Kearns-Sayer Syndrome (KSS). Kodwa ungakhathazeki. Ukuxilongwa kusenesikhathi kanye nokunakekelwa okusekelayo kungasiza ekunciphiseni ingozi yezinkinga. Udokotela wakho angancoma ukwelashwa okungakusiza wena nengane yakho ukuthi niphathe izimpawu zayo futhi nithuthukise ikhwalithi yempilo yabo.

Usizo oluvela eqenjini lodokotela abangochwepheshe

Ngenxa yokuthi lesi simo sithinta izingxenye eziningi zomzimba, sidinga ukwesekwa yithimba lodokotela abanolwazi emikhakheni eyahlukene. Ithimba lakho lokwelapha lingafaka:

• Udokotela wamehlo
• Uchwepheshe wezokuzwa `(udokotela wezindlebe)`
• Udokotela wenhliziyo
• Udokotela we-Endocrinologist
• Isazi sezakhi zofuzo
• Udokotela wezinzwa
• Umeluleki wezokwelapha emsebenzini noma uchwepheshe wezokwelapha ngokomzimba
• Uchwepheshe wezempilo yengqondo (isib. `udokotela wezifo zengqondo`)

Yiziphi izindlela zokwelapha?

Umgomo oyinhloko wokwelashwa ukulawula izimpawu nokunciphisa izinkinga ezingase zenzeke njengoba isimo siba sibi kancane kancane.

• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi: Lokhu kusiza ukugcina ukubambisana, amandla, kanye nokulinganisela. Kukusiza futhi ukuthi wenze imisebenzi yansuku zonke ngokuzimela.
• Imithi: Udokotela wakho angase akunike imithi yesifo senhliziyo, izinkinga zamahomoni, noma izimpawu zengqondo (isib. ukucindezeleka).

Ngaphezu kwalokho, udokotela angancoma izinto ezifana nalezi:

• Izinsiza zokuzwa noma izifakelo ze-cochlear (uma kudingeka kwabanye abantu)
• Ukuhlinzwa kwe-eyelid sling noma i-eyelid (blepharoplasty) kungasiza ekugcineni amehlo evulekile lapho amehlo egoba.
• Isengezo se-folic acid uma izinga le-folate ku-cerebrospinal fluid (CSF) liphansi.
• Ukwelashwa kokushintsha kwama-hormone ngenxa yokuntuleka kwama-hormone.
• I-insulin noma eminye imithi yesifo sikashukela.
• Ukufakelwa kwe-pacemaker uma kukhona ukuphazamiseka okusongela impilo ezimpawini zikagesi zenhliziyo.

Ukuqapha njalo kwezokwelapha kubalulekile kumuntu one- (KSS) ngoba ngokuhamba kwesikhathi, njengoba izinhlelo ezahlukene zezitho zomzimba zilahlekelwa ukusebenza kahle, izimpawu ezintsha zingase zivele. Khuluma nodokotela wakho njalo ngezinketho ezingakusiza uhlale uphilile ngangokunokwenzeka, isikhathi eside ngangokunokwenzeka.

Impilo injani ngalesi simo? Ikusasa lizosiphathelani?

Umbono womuntu one-Kearns-Sayer syndrome (KSS) uncike ebunzimeni bezimpawu zakhe. Kodwa-ke, abantu abaningi baphila nalesi simo amashumi eminyaka. Ukwelashwa okusekelayo kungakusiza wena nomntanakho niphile impilo ende nenempilo. Ungalilahli ithemba.

Okokugcina, izinto ezibaluleke kakhulu okufanele uzikhumbule

Kulungile, ngakho-ke kulokho esikhulume ngakho, ngithemba ukuthi uthole ukuqonda okuthile nge-Kearns-Sayre Syndrome. Kuyisimo esiyinkimbinkimbi kancane, esingavamile. Kodwa khumbula:

• Ukutholwa kusenesikhathi kubaluleke kakhulu. Uma unezimpawu ezingavamile, ikakhulukazi uma ziqala usemncane, njengobuthakathaka bamehlo, benhliziyo, noma bemisipha, ungalibali ukufuna iseluleko sezokwelapha.
• Lesi yisimo sofuzo, akulona iphutha lanoma ubani. Ngakho ungazibeki icala.
• Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela eziningi zokwelapha ezingaphatha izimpawu futhi zithuthukise ikhwalithi yokuphila .
• Sebenzisana nethimba lodokotela abangochwepheshe ukuze wakhe uhlelo oluthile lokwelapha. Landela njalo imiyalelo kadokotela wakho.
• Nakuba lesi simo siyinselele, awuwedwa. Ngokusekelwa kanye nolwazi olufanele, ungadlula kulokhu.

Uma wena noma othile omaziyo enale nkinga, ngithemba ukuthi lolu lwazi luzobasiza naye. Hlala unolwazi, hlala uphilile!

I- Kearns-Sayre Syndrome, i-mitochondria, ukuguquka kwezakhi zofuzo, izifo zamehlo, izifo zenhliziyo, ubuthakathaka bemisipha, izifo zezinzwa