Utholakala Lwe-Tuberous Sclerosis? Izimpawu, Izimbangela, Nokwelapha

I-Tuberous sclerosis iyisimo sezofuzo esibangela ukukhula kwamathumba angesiye izingozi ezingxenyeni ezahlukene zomzimba wakho. Lezi zikhulu, ezibizwa ngokuthi yi-hamartomas, zingakhula ebuchosheni bakho, ezikinini, ezinkingeni, enhliziyweni, emaphashini, nakwezinye izitho kulo lonke impilo yakho.

Nakuba lokhu kungase kuzwakale kukhulu ekuqaleni, kubalulekile ukwazi ukuthi i-tuberous sclerosis ibathinta bonke ngendlela ehlukene. Abanye abantu banezimpawu ezilula ezingathinti kakhulu impilo yabo yansuku zonke, kanti abanye bangadinga ukunakekelwa okubanzi kakhulu nokusekelwa.

Iyini i-tuberous sclerosis?

I-Tuberous sclerosis complex (TSC) iyisifo sezofuzo esingavamile esenzeka lapho ama-jini athile engaqondi kahle. Lokhu kubangela ukukhula kwamaseli nokwahlukaniswa ngezindlela ezingavamile, kudala amathambo alungile ezinhlwini ezahlukene.

Lesi simo sithola igama lazo eziqongweni ezifana nezamagqabi (ama-tuber) angakha ebuchosheni naseziqongweni eziqine (i-sclerosis) ezingase zivele ezikinini. Cishe umuntu o-1 ku-6,000 emhlabeni jikelele une-tuberous sclerosis, okwenza kube yinto evamile kunalokho ongase ulindele ngesimo esingavamile.

I-TSC ikhona kusukela ekuzalweni, nakuba izimpawu zingase zivele kamuva ebuntwaneni noma ngisho nasebudaleni. Ubukhulu bungase buhluke kakhulu phakathi amalungu omndeni, ngisho nalapho enesiguquko esifanayo sezofuzo.

Ziyini izimpawu ze-tuberous sclerosis?

Izimpawu ze-tuberous sclerosis ziyahluka kuye kokuthi amathambo akhulaphi nokuthi amakhulu kangakanani. Njengoba lesi simo singathinta izitho eziningi, izibonakaliso zingase zibonakale zihlukile kakhulu kumuntu ngamunye.

Nazi izimpawu ezivamile ongaziqaphela:

• Ukushintsha kwesikhumba njengeziqongo ezimhlophe, amaqhubu abomvu ebusweni, noma iziqongo ezinzima emuva
• Ukuhlushwa okuqala ebuntwaneni noma ebuntwaneni
• Ukulibaziseka kwezithuthukisi noma ubunzima bokufunda
• Izinselele zokuziphatha, kufaka phakathi ukuziphatha kwe-autism spectrum
• Izinkinga zezinkimbinkimbi ezingase zibangele ukucindezeleka kwegazi
• Ukungaqondani kwenhliziyo, ikakhulukazi kubantwana abasebancane
• Izinkinga zamaphashana ezingase zibangele ukuphefumula okufushane

Abanye abantu nabo baye baba nezimpawu ezingavamile. Lezi zingase zihlanganise izinkinga zobono ezivela ezikhulwini emehlweni, izinkinga zamahlombe njengezinyo eziqholiwe, noma ukushintsha kwamafu ekuthuthukiseni.

Kuyaduduza ukwazi ukuthi ukuba ne-tuberous sclerosis akusho ukuthi uzokhula zonke lezi zimpawu. Abantu abaningi baphila impilo egcwele, esebenzayo ngenkathi baphatha ezinye zezibonakaliso.

Ziyini izinhlobo ze-tuberous sclerosis?

I-Tuberous sclerosis ayinazo izinhlobo ezihlukile, kodwa odokotela bavame ukuyihlela ngokusekelwe ekutheni ama-jini aphikisana nawo. Kunezinhlobo ezimbili eziyinhloko zama-jini ezihilelekile: i-TSC1 ne-TSC2.

Abantu abanezinguquko ze-TSC2 gene bavame ukuba nezimpawu ezinzima kunezinye ezinenguquko ye-TSC1. Noma kunjalo, akuyona imithetho eqinile, futhi isipiliyoni sakho somuntu siqu singase sihluke kakhulu kunalokho i-genetics yodwa engase ikubikezele.

Abanye abantu bane-tuberous sclerosis ethi "i-mosaic", lapho ezinye kuphela zamaseli omzimba wabo eziphethe i-genetic change. Lokhu kuvame ukubangela izimpawu ezilula ezingase zithinte indawo eyodwa yomzimba.

Yini ebangela i-tuberous sclerosis?

I-Tuberous sclerosis kwenzeka ngenxa yokushintsha (ukuguqulwa) kuma-jini avame ukusiza ukulawula ukukhula kwamaseli. La ma-jini, abizwa ngokuthi yi-TSC1 ne-TSC2, asebenza njengezinkimbinkimbi zamaseli ezivimbela amaseli ekukhuleni ngokushesha kakhulu.

Lapho la ma-jini engaqondi kahle, amaseli angakhula futhi ahlukanise ngaphandle kokulawulwa okuvamile. Lokhu kuholela ekwakheni kwamathumba alungile ezinhlwini ezahlukene kulo lonke umzimba wakho.

Cishe izigamu ezimbili kwezintathu zabantu abane-tuberous sclerosis bazuza lesi simo kumzali onalesi simo. Ingxenye esele iyakuthuthukisa kusuka ekuqaleni kokushintsha kwe-genetic okwenzeka ngokuzimela ngesikhathi sokuthuthukiswa kwasekuqaleni.

Uma une-tuberous sclerosis, ngamunye wabantwana bakho unethuba elingu-50% lokuzuza lesi simo. Noma kunjalo, ngisho noma belizuza, izimpawu zabo zingase zihluke ngokuphelele kunozakho.

Nini okufanele ubona udokotela nge-tuberous sclerosis?

Kufanele ufuna ukunakekelwa kwezokwelapha uma uqaphela noma iyiphi inhlanganisela yezimpawu okukhulunywe ngazo ngaphambili, ikakhulukazi kubantwana. Izibonakaliso zokuqala ezifuna ukuvakashela udokotela zihlanganisa ukuhlushwa okungachazeki, ukulibaziseka kwezithuthukisi, noma ukushintsha okukhethekile kwesikhumba.

Uma ingane yakho inezigongo ezimhlophe ezikinini zayo ezingatshisi elangeni, amaqhubu ebusweni abonakala njenge-acne kodwa angaphenduli ekwelapheni, noma ukuhlushwa kwanoma yiluphi uhlobo, kufanele ukuxoxe ngalokhu nodokotela wakho wezingane.

Kubantu abadala, izimpawu ezintsha njengezinkinga zezinkimbinkimbi, izinkinga zamaphashana, noma ukushintsha ezikhulwini zesikhumba ezisekhona kufanele kukhuthaze ukuhlolwa kwezokwelapha. Ngisho noma uhlale unezimpawu ze-tuberous sclerosis ezilula, ukuhlolwa okuvamile kusiza ekuqapheleni noma yikuphi ukushintsha.

Ungalindi uma uhlushwa yizimpawu ezinzima njengobunzima bokuqeda, ukuhlushwa okuqhubekayo, noma ukushintsha okukhathazayo ekuziphatheni noma ekuthuthukiseni. Lezi zimo zidinga ukunakekelwa kwezokwelapha ngokushesha.

Ziyini izici ezingozi ze-tuberous sclerosis?

I-risk factor eyinhloko ye-tuberous sclerosis ukuba nomzali onalesi simo. Uma omunye umzali enesifo se-TSC, kunethuba elingu-50% lokudlulisela kumntwana ngamunye.

Noma kunjalo, kubalulekile ukuqonda ukuthi abantu abaningi abane-tuberous sclerosis abanabo abazali abathintekayo. Cishe u-60-70% wezimo zivela ekuqaleni kokushintsha kwe-genetic okwenzeka ngokuzimela ngesikhathi sokuthuthukiswa kwasekuqaleni.

Ubudala obukhulu babazali bungase bukhulu kancane ingozi yokushintsha okusha kwe-genetic, kodwa lobu buxhumano abunamandla ngokwanele ukubhekwa njengoba i-risk factor enkulu. Izici zemvelo, izinqumo zokuphila, noma ezinye izimo zempilo azithinti ingozi yakho yokuthuthukisa i-tuberous sclerosis.

Ziyini izinhlanganisela ezingase zenzeke ze-tuberous sclerosis?

Nakuba i-tuberous sclerosis ibathinta bonke ngendlela ehlukene, ukuqonda izinhlanganisela ezingase zenzeke kungakusiza wena neqembu lakho lokunakekelwa kwezokwelapha ukuba niqaphele futhi nihlinzeke ngokunakekelwa okuhle kakhulu okungenzeka.

Izinhlanganisela ezivamile zihlanganisa:

• I-Epilepsy engase ibe nzima ukuyilawula ngemithi evamile
• Izinkinga zezinkimbinkimbi, kufaka phakathi ukukhula okungase kuthinte umsebenzi wezinkimbinkimbi
• Ukulibaziseka kwezithuthukisi nokuhluleka kwengqondo kwamazinga ahlukene
• Ukuziphatha kwe-autism spectrum nezinselele zokuxhumana
• Izinhlanganisela zenhliziyo, ikakhulukazi kubantwana abasebancane nabantwana abancane
• Isifo samaphashana esingase sibangele ubunzima bokuqeda, ikakhulukazi kwabesifazane
• Izinkinga zamehlo ezingase zithinte umbono

Abanye abantu bangase baphinde bathuthukise izinhlanganisela ezingavamile. Lezi zingase zihlanganise isifo sezinkimbinkimbi esinzima esidinga i-dialysis, izinkinga zamaphashana ezisongela impilo, noma amathambo enhliziyo ahlanganisa umsebenzi ojwayelekile wenhliziyo.

Izindaba ezimnandi ukuthi ngokulawula okuqondile nokuphatha, izinhlanganisela eziningi zingaphathwa kahle. Ukuvakashela okuvamile neqembu lakho lokunakekelwa kwezokwelapha kusiza ekuqapheleni izinkinga ekuqaleni lapho zitholakala khona.

I-tuberous sclerosis ingavikeleka kanjani?

Njengoba i-tuberous sclerosis iyisimo sezofuzo, ayikho indlela yokuyivimbela ukuba yenzeke. Noma kunjalo, uma une-TSC noma umlando womndeni wesimo, ukwelulekwa kwe-genetic kungakusiza ukuqonda izingozi zabantwana bakusasa.

Ukuhlolwa kwangaphambi kokuzalwa kutholakala emindenini efuna ukwazi ukuthi ingane yabo engakazalwa izuze i-tuberous sclerosis. Lolu lwazi lungakusiza ukulungiselela ukunakekelwa kwengane yakho nokuxhumana namaqembu ezokwelapha afanele ekuqaleni.

Nakuba ungakwazi ukuvimbela i-tuberous sclerosis ngokwayo, ungathatha izinyathelo zokuvimbela noma ukunciphisa izinhlanganisela. Lokhu kuhlanganisa ukulandela uhlelo lwakho lokwelapha, ukuya emihlanganweni yezokwelapha okuvamile, nokugcina indlela yokuphila enempilo.

I-tuberous sclerosis ihlonishwa kanjani?

Ukuhlonishwa kwe-tuberous sclerosis kuhilela ukubuka izibonakaliso nezibonakaliso ezithile odokotela abazibiza ngokuthi "izindinganiso zokuhlola." Udokotela wakho uzohlola isikhumba sakho, alayishe ukuhlolwa kwezithombe, futhi angase akukhuthaze ukuhlolwa kwe-genetic.

Inqubo yokuhlola ivame ukufaka ukuhlolwa komzimba okuhle kakhulu ukubuka ukushintsha kwesikhumba okukhethekile. Udokotela wakho uzosebenzisa ukukhanya okukhethekile okubizwa ngokuthi yi-Wood's lamp ukugqamisa iziqongo ezimhlophe ezingase zingabonakali ngaphansi kokukhanya okuvamile.

Ukuhlolwa kwezithombe kudlala indima ebalulekile ekuhlonzweni. I-MRI scans yengqondo ingase iveze amathambo ebuchosheni akhethekile, kanti i-CT scans yesifuba nesisu zisiza ekuqapheleni amathambo emaphashini nasezinkingeni.

Ukuhlolwa kwe-genetic kungase kuqinisekise ukuhlolwa ngokuqaphela ukushintsha kuma-TSC1 noma ama-TSC2 genes. Noma kunjalo, cishe u-10-15% wabantu abane-tuberous sclerosis baneziphumo zokuhlolwa kwe-genetic ezijwayelekile, ngakho ukuhlolwa okungalungile akupheli lesi simo.

Udokotela wakho angase futhi akukhuthaze ukuhlolwa okwengeziwe njenge-electroencephalogram (EEG) ukuhlola imisebenzi yokuhlushwa, i-echocardiogram ukuhlola inhliziyo yakho, nokukhethwa kwamehlo ukubuka ukushintsha kwe-retina.

Iyini ukwelapha kwe-tuberous sclerosis?

Ukwelapha kwe-tuberous sclerosis kugxile ekulawuleni izimpawu nokuvimbela izinhlanganisela kunokwelapha lesi simo. Iqembu lakho lokunakekelwa lizohlanganisa ochwepheshe abaningi abasebenza ndawonye ukuze bahlangabezane nezidingo zakho ezithile.

Ukulawula ukuhlushwa kuvame ukuba yinto ebaluleke kakhulu. Imithi yokulwa nokuhlushwa ingasiza ekulawuleni i-epilepsy, nakuba abanye abantu abane-TSC bangadinga imithi eminingi noma ezinye izindlela zokwelapha njengokwelashwa kokudla noma ukuhlinzwa.

Imithi ebizwa ngokuthi yi-sirolimus (eyaziwa nangokuthi yi-rapamycin) ibonise ithemba ekuqedeni amathambo athile ahlotshaniswa ne-tuberous sclerosis. Iyasiza kakhulu amathambo ezinkimbinkimbi nasezikhulwini zobuso.

Ezinye izindlela zokwelapha ziyahluka kuye kokuthi iziphi izitho ezithintekayo:

• Ukwelashwa kokuziphatha nokusekelwa kwezemfundo ngezinselele zokuthuthukiswa
• Imithi noma izinqubo zezinkinga zezinkimbinkimbi
• Ukuqapha inhliziyo nokwelapha amathambo enhliziyo
• Ukusekelwa komsebenzi wamaphashana ngezinhlanganisela zokuphefumula
• Ukwelapha isikhumba ngezinkinga ze-cosmetic

Ukuqapha okuvamile kubalulekile ngisho nalapho uzizwa kahle. Lokhu kusiza iqembu lakho lokunakekelwa kwezokwelapha ukuqaphela noma yikuphi ukushintsha ekuqaleni futhi kulungise izindlela zokwelapha njengoba kudingeka.

Indlela yokuphatha i-tuberous sclerosis ekhaya?

Ukulawula i-tuberous sclerosis ekhaya kuhilela ukwakha indawo yokusekela nokugcina izindlela zokunakekelwa eziqhubekayo. Ukugcina idayari yezimpawu ezinemininingwane kungakusiza wena neqembu lakho lokunakekelwa kwezokwelapha ukuqapha ukushintsha ngokuhamba kwesikhathi.

Uma wena noma ingane yakho inokuhlushwa, qiniseka ukuthi amalungu omndeni ayazi usizo lokuqala lokuhlushwa. Gcina imithi yokutakula ifinyeleleka futhi uqiniseke ukuthi izikole noma izindawo zokusebenza ziyazi ngesimo sakho nezinqubo zokutakula.

Vivela isikhumba sakho ekubeni lilimale elangeni, njengoba iziqongo ezimhlophe ezihlotshaniswa ne-TSC zingakhi i-pigment evikela. Sebenzisa i-sunscreen njalo futhi cabanga ngokugqoka okugcina ukwenza imisebenzi yangaphandle isikhathi eside.

Gcina indlela yokuphila enempilo ngokuzivocavoca okuvamile, ukudla okulinganiselayo, nokulala okwanele. Lezi zindinganiso zisekela impilo yonke futhi zingasiza ekuqedeni ukwanda kwezimpawu ezithile njengokuhlushwa.

Xhumana namaqembu okusekela namaqembu e-online abantu abane-tuberous sclerosis. Ukwabelana ngamava nabanye abantu abaqonda izinselele zakho kungakunika ukusekelwa okubalulekile ngokomzwelo nezeluleko eziwusizo.

Kufanele ulungiselele kanjani i-appointment yakho yodokotela?

Ukulungiselela i-appointment yakho kusiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho nomhlinzeki wakho wezokunakekelwa kwezokwelapha. Qala ngokubhala zonke izimpawu zakho, kufaka phakathi ukuthi zaqala nini nokuthi zishintshe kanjani ngokuhamba kwesikhathi.

Letha uhlu oluphelele lwazo zonke imithi, izithasiselo, namavithamini owathathayo. Faka imithamo nokuthi uthatha kangaki ngayinye, njengoba lolu lwazi lusisiza udokotela wakho ukugwema ukusebenzisana okungase kube yingozi.

Lungiselela uhlu lwemibuzo ofuna ukuyibuza. Cabanga ukubuza ngezindlela ezintsha zokwelapha, ukuguqulwa kokuphila okungasiza, noma izinsiza zokusekelwa okwengeziwe.

Uma kungenzeka, letha ilungu lomndeni noma umngani e-appointment yakho. Bangakusiza ukukhumbula ulwazi olubalulekile futhi banike ukusekelwa ngokomzwelo ngesikhathi soxoxa ngokunakekelwa kwakho.

Butha noma yimaphi amarekhodi ezokwelapha afanele, imiphumela yokuhlolwa, noma izifundo zezithombe ezivela kwabanye abahlinzeki bezokwelapha. Lesi sithombe esiphelele sisiza udokotela wakho ukwenza izincomo ezinhle kakhulu zokunakekelwa kwakho.

Iyini into ebaluleke kakhulu nge-tuberous sclerosis?

Into ebaluleke kakhulu okumele uyiqonde nge-tuberous sclerosis ukuthi ibathinta bonke ngendlela ehlukene. Nakuba kuyisimo sempilo yonke esidinga ukulawulwa okuqhubekayo, abantu abaningi abane-TSC baphila impilo egcwele, enenjongo.

Ukuhlonishwa ekuqaleni nokuphatha okufanele kungathuthukisa kakhulu imiphumela nekhwalithi yempilo. Ukusebenza neqembu lokunakekelwa kwezokwelapha eliqeqeshwe kahle nokuxhumana nomphakathi we-TSC kunikeza isisekelo esihle kakhulu sokuphatha lesi simo.

Khumbula ukuthi ucwaningo lwe-tuberous sclerosis luqhubeka, ngezindlela ezintsha zokwelapha nezinqubo zokuphatha ezithuthukiswa njalo. Okungase kubonakale kuyinselele namuhla kungase kube lula kakhulu ngezinzuzo zesikhathi esizayo ekunakekelweni.

Imibuzo evamile ebuzwa nge-tuberous sclerosis

Ingabe i-tuberous sclerosis ibulala?

I-Tuberous sclerosis ngokwayo ayibulali, futhi abantu abaningi abane-TSC bane-life expectancies evamile. Noma kunjalo, izinhlanganisela ezinzima njenge-epilepsy enzima, isifo sezinkimbinkimbi, noma izinkinga zamaphashana ngezinye izikhathi zingaba yingozi uma zingalawulwa kahle. Ukunakekelwa kwezokwelapha okuvamile nokuqapha kusiza ekuvimbeleni izinhlanganisela eziningi ezinzima.

Ingabe abantu abane-tuberous sclerosis bangaba nabantwana?

Yebo, abantu abane-tuberous sclerosis bangaba nabantwana. Noma kunjalo, kunethuba elingu-50% lokudlulisela lesi simo kumntwana ngamunye. Ukwelulekwa kwe-genetic kungakusiza ukuqonda lezi zingozi nokucwaninga ngezinketho njengokuhlolwa kwangaphambi kokuzalwa noma ubuchwepheshe bokuzala obusizayo uma kufunwa.

Ingane yami enesifo se-tuberous sclerosis iyokwazi ukuba esikoleni esivamile?

Abantwana abaningi abane-tuberous sclerosis bayaya ezikoleni ezijwayelekile ngezinsizakalo zokusekela ezifanele. Izinga lokusekelwa elidingayo liyahluka kakhulu kuye ekutheni izimpawu zamuntu ziyini namandla. Abanye abantwana bangadinga izinsizakalo zokufunda ezikhethekile, kanti abanye badinga ukulungiswa okuncane.

Ingabe amathambo e-tuberous sclerosis aphenduka izingozi?

Amathambo ahlotshaniswa ne-tuberous sclerosis cishe njalo alungile (angesiye izingozi). Noma kunjalo, kunethuba elincane elikhulayo lokuthuthukisa izinhlobo ezithile zokukhula kwesibindi kamuva ekuphileni, kungakho ukuqapha okuvamile kubalulekile.

Ingabe abantu abadala bangase bathuthukise izimpawu ze-tuberous sclerosis okokuqala?

Nakuba i-tuberous sclerosis ikhona kusukela ekuzalweni, izimpawu zingase zivele kunoma yiliphi iminyaka. Abanye abadala bahlolwa okokuqala lapho bethuthukisa izinkinga zezinkimbinkimbi, izinkinga zamaphashana, noma lapho ingane yabo ihlolwa nge-TSC futhi ukuhlolwa komndeni kuveza izimpawu ezingaziwa ngaphambili.