Ake sifunde kabanzi nge-Tuberous Sclerosis. Ungesabi, ake sixoxe!

Ngezinye izikhathi empilweni yethu, sizwa ngezifo ezingacabangeki futhi ezingajwayelekile, akunjalo? Nokho, isifo abantu abaningi abangakaze bezwe ngaso, kodwa okubaluleke kakhulu ukusazi, yi- Tuberous Sclerosis Complex (TSC) , noma i-Tuberous Sclerosis nje. Okwenzekayo kulokhu ukuthi izimila ezingezona umdlavuza, noma izimila, zikhula ezingxenyeni ezahlukene zomzimba wakho, ikakhulukazi ezindaweni ezifana nobuchopho, isikhumba, izinso, inhliziyo, namaphaphu. Lesi yisifo esibangelwa izakhi zofuzo. Kodwa ungakhathazeki, sizoxoxa ngakho konke ngokucacile nangokulula.

Iyini ngempela i-Tuberous Sclerosis?

Kalula nje, i-tuberous sclerosis (TSC) iyisifo esingavamile esibangelwa izakhi zofuzo. Singabangela ukuthi kwakheke izimila ezingezona umdlavuza ezingxenyeni ezahlukene zomzimba wakho, njengobuchopho bakho, isikhumba, izinso, inhliziyo, amehlo, namaphaphu. Kubalulekile ukukhumbula ukuthi lezi zimila aziwona umdlavuza . Lokhu kusho ukuthi azizona izimila eziyingozi ezisakazeka zisuka kwenye ingxenye yomzimba ziye kwenye. Kodwa-ke, lezi zimila zingabangela izinkinga ezahlukene zempilo, kuye ngokuthi zenzeka kuphi kanye nobukhulu bazo.

Abanye abantu abathinteki kakhulu yilesi simo. Bangaphila impilo evamile. Kodwa kwabanye, singaba sibi kakhulu futhi singaholela ezinkingeni ezahlukahlukene. Lesi sifo sikhula kancane kancane. Ezinye izimpawu zingase ziqale esemncane, kodwa ezinye zingathatha iminyaka ukuthi zivele. Ngakho-ke, umuntu onalesi simo udinga iseluleko sezokwelapha kanye nokuqapha impilo yakhe yonke.

Ubani othinteka kakhulu yilesi simo? Sivame kangakanani?

I-Tuberous sclerosis (TSC) yisimo esiba khona lapho kuzalwa . Cishe ingxenye yezingane itholakala inalesi simo ngesikhathi sezinezinyanga eziyisikhombisa ubudala. Kodwa-ke, ngezinye izikhathi izimpawu azibonakali kangako, futhi zingase zingatholakali iminyaka eminingi. Ngisho noma lesi simo sitholakala ebuntwaneni, izimpawu ezintsha zingase zivele njengoba ziba ngabantu abadala.

Lesi simo singathinta noma ubani, kungakhathaliseki ubulili, uhlanga, noma iqembu lobuzwe. Lokho kusho ukuthi alikho iqembu elithile elisengozini yaso.

Cabanga ukuthi lokhu kungavamile kangakanani. I-Tuberous sclerosis (TSC) empeleni iyisifo esingavamile kakhulu . Kunabantu abangaba ngu-50,000 kuphela e-United States abanalesi sifo. Emhlabeni wonke, bangaba yisigidi. Ngakho ungacabanga ukuthi lesi simo singavamile kangakanani.

I-tuberous sclerosis (TSC) iwuthinta kanjani umzimba?

Umphumela oyinhloko we-tuberous sclerosis (TSC) ukuthi amangqamuzana emzimbeni akhula ndawonye abe yizigaxa ezincane (amathumba). Lokhu kuvame ukwenzeka ebuchosheni . Ngaphezu kwalokho, ungase ubhekane nezinguquko esikhumbeni sakho, ikakhulukazi uma usemncane kakhulu. Eqinisweni, lezi zinguquko zesikhumba zivame ukuba uphawu lokuqala lokuthi othile unesifo.

Akukhona lokho kuphela, kodwa isifo sokuqina kwemisipha (i-TSC) singathinta nenhliziyo nezinso zakho. Kuvamile ukuthi izinhlobo ezahlukene zamaqhubu zakheke kulezi zitho zomzimba. Akuvamile ukuthi amaqhubu akheke kwezinye izindawo.

Ziyini izimpawu? Zibonakala kanjani?

Izimpawu ze-tuberous sclerosis (TSC) zingahluka kakhulu kuye ngokuthi isitho noma ingxenye yomzimba ithintekile. Izimpawu zingahlukaniswa ngamaqembu amathathu ayinhloko:

• Izimpawu ezihlobene nobuchopho
• Izimpawu ezihlobene nesikhumba
• Ezinye izinguquko zangaphakathi emzimbeni

Ake sibheke ngayinye yalezi ngokwehlukana.

Izimpawu ezihlobene nobuchopho

Izimpawu ezihlobene nobuchopho zenzeka lapho kwakheka izimila noma ama-cortical tubers (ama-hamartoma) ebuchosheni ngenxa ye-tuberous sclerosis (TSC). Nakuba lezi zimila zingewona umdlavuza, zingabangela ukulimala kobuchopho futhi ziphazamise ukusebenza kobuchopho. Ezinye izibonelo yilezi:

• I-Subependymal giant cell astrocytoma (SEGA) : Lezi yizimila ezakheka ebusweni bobuchopho, ikakhulukazi ebusweni bezimbobo ezincane ezigcwele uketshezi (ama-ventricles) ngaphakathi kobuchopho. Lezi ngezinye izikhathi zingavimba ukugeleza koketshezi lwe-cerebrospinal, okubangela uketshezi ukuthi luqongeleleke ebuchosheni naseduze. Lesi simo sibizwa ngokuthi i-hydrocephalus .
• Ama-cortical tuber (ama-hamartoma) : Lawa amaqoqo amangqamuzana angewona umdlavuza. Lawa maqoqo amangqamuzana akha ngaphakathi kobuchopho, eduze nalapho kufanele abe khona, kodwa ngendlela exakile. Lokhu kungenxa yokuthi amangqamuzana amaningi kakhulu akhekile futhi awekho indawo eyanele yokuba akhule.

Ngokuvamile, i-tuberous sclerosis (TSC) ingabangela ezinye izimo, ezinezimpawu ezihlobene:

• Ukuquleka : Lokhu kuyinto evame kakhulu.
• Ukulibaziseka kokukhula kanye nokukhubazeka kwengqondo : Isibonelo, ingane ingaba nokulibaziseka ekukhulumeni, ekuhambeni, njll. Ukukhubazeka kokufunda nakho kungase kwenzeke.
• Izimo ezihlobene nokukhula kobuchopho: Izimo ezifana ne -autism spectrum disorder noma i-attention-deficit/hyperactivity disorder (ADHD) .

Nakuba ukuxhuzula kanye nokuphazamiseka kwengqondo kuvame ukuba khona ku-tuberous sclerosis (TSC), akuwona wonke umuntu onesifo ozoba nakho. Kungenzeka futhi ukuba nokuxhuzula wedwa ngaphandle kokuphazamiseka kwengqondo.

Izimpawu ezihlobene nesikhumba

Izimpawu zesikhumba zivame ukuba uphawu lokuqala lwe-tuberous sclerosis (TSC). Ochwepheshe bathi abantu abangu-90% abanalesi sifo babhekana nokukodwa noma ngaphezulu kwalokhu okulandelayo:

• Amabala amaqabunga omlotha : Lawa angama-melanin esikhumbeni.Izindawo ezine-pigmentation ephansi (i-pigment enikeza isikhumba umbala waso). La mabala abukeka njengamaqabunga ampunga. Ngezinye izikhathi, kunzima ukuwabona kubantu abanesikhumba esikhanyayo. La mabala akhanya ngaphansi kohlobo olukhethekile lokukhanya kwe-ultraviolet (UV) .
• Izimpawu ze-Confetti : Lezi zibukeka njengezinhlayiya. Kodwa-ke, yize izinhlayiya ezivamile zimnyama kunesikhumba esizungezile, lezi zimpawu ze-confetti zinombala okhanyayo kunesikhumba esizungezile. Lezi zingavela nasebancane.
• Ama-fibroma asebusweni : Lawa amahlumela angewona umdlavuza akheka esikhumbeni sobuso. Uma eba makhulu, noma uma amaningana esondelene, angabonakala njengamaqoqo amakhulu abizwa ngokuthi “ama-plaque.” Angase abe nombala omnyama kunesikhumba esizungezile.
• Ama-fibroma ezinzipho zomunwe kanye nezinzwane : Lawa afana nama-fibroma obuso, kodwa akheka nxazonke noma ngaphansi kwezinzipho zeminwe nezinzwane. Ngokuvamile avela ngesikhathi sokuthomba futhi angakhula impilo yonke.
• Ama-Shagreen patches : Lezi yizindawo zezicubu ezinemicu ezakheka ngaphansi kwengqimba engaphandle yesikhumba (i-epidermis). Ngokuvamile zivela emhlane ongezansi. Zifana nesikhumba seolintshi noma se-grapefruit.

Khumbula, ukubona nje la mabala noma amaqhubu esikhumbeni sakho akusho ukuthi une-tuberous sclerosis. Kubalulekile ukuthi uhlolwe udokotela.

Ezinye izinguquko zangaphakathi emzimbeni

Izimila noma ama-cyst ayenzeka nge-tuberous sclerosis (TSC) angavela kwezinye izingxenye eziningi zomzimba. Ezinye izinguquko zingase zenzeke. Ezinye zazo yilezi:

• Ukushintsha komlomo : Ama-fibroma (amathumba) akhula ngaphakathi emlonyeni, kanye nokubhoboka kwamazinyo ngenxa yokulahlekelwa yi-enamel yamazinyo. Lezi zinguquko ku-enamel yamazinyo zibonakala cishe kuwo wonke umuntu one-TSC. Izinsini zingaba buhlungu futhi zophe ngenxa yamaqhubu. Ukubhoboka kwe-enamel nakho kungaholela ezimbotsheni.
• Ama-cyst ezinso : Uma lokhu kuvela ezinso, kungaphazamisa ukusebenza kwezinso. Izimpawu zingafaka phakathi ubuhlungu emhlane noma ohlangothini, igazi emchameni, kanye namatshe ezinso. Ngezinye izikhathi, ukwehluleka kwezinso kanye nohlobo lomdlavuza wezinso olubizwa ngokuthi i-renal cell carcinoma nakho kungavela.
• Izimila ze-retina noma i-optic nerve : Lezi zimila zingabangela izinkinga zokubona, kodwa lokhu akuvamile.
• Izimila zenhliziyo (ama-rhabdomyomas enhliziyo) : Lezi zimbi kakhulu ezinganeni. Ingozi iyancipha njengoba iminyaka ikhula. Izimila ezinkulu zingavimba ukuhamba kwegazi enhliziyweni, kodwa lokhu akuvamile.
• Amaqhubu emaphashini : Uma lokhu kuba nzima, kungabangela ubunzima bokuphefumula.

Yini ebangela i-tuberous sclerosis (TSC)?

I-Tuberous sclerosis (TSC) iyisifo esibangelwa izakhi zofuzo . Lokhu kusho ukuthi sibangelwa izinguquko (ukuguqulwa kwezakhi zofuzo) ku-DNA yethu . Amaseli amaningi emzimbeni wethu ayahlukana futhi athathelwa indawo amaseli amasha. Le nqubo ilawulwa amaprotheni acindezela isimila.

Lawa maprotheni alawula izinga amangqamuzana ahlukana ngalo kanye nobukhulu bamaseli. Cabanga ukuthi kuzokwenzekani uma lawa maprotheni engalingani? Bese kuthi, amaseli amakhulu kakhulu, amaningi kakhulu, aqale ukukhula. Uma engenandawo yokuya, akhula ngokungalawuleki futhi akhe amathumba. Yilokho okwenzekayo ku-tuberous sclerosis.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Ukuguqulwa kwezakhi zofuzo okubangela i-tuberous sclerosis (TSC) kungenzeka ngezindlela ezimbili:

• Okungavamile : Lawa amaphutha angahleliwe ayenzeka ngokushesha ngemva kokukhulelwa (okungukuthi, ngemva kokuba isidoda neqanda sekuhlangene ukuze kwakhiwe umbungu). Kufana nokubhala iphutha encwadini ephrintiwe. Lawa avame kakhulu kunamacala azuzwe njengefa.
• Ifa : Cishe ingxenye eyodwa kwezintathu yeziguli ezine-tuberous sclerosis (TSC) ziyizuza njengefa kubazali bazo.

Itholakala kanjani i-tuberous sclerosis (TSC)?

Ochwepheshe bahlukanisa izimpawu zesifo ngezigaba ezimbili eziyinhloko: izici ezinkulu nezici ezincane . Ukuze utholakale une-tuberous sclerosis (TSC), kufanele ube nezici ezimbili noma ngaphezulu ezinkulu. Ngenxa yokuthi izimpawu zingavela ngokuhamba kwesikhathi, udokotela angase ahlukanise isimo sakho ngokuthi "i-TSC engenzeka" uma unesici esisodwa kuphela esikhulu noma izici ezimbili ezincane.

Izici Eziyinhloko

• Okungenani amabala amathathu amaqabunga omlotha (indawo ngayinye kufanele ibe nobubanzi obungu-5 mm okungenani).
• Ukuba nama-fibroma okungenani amabili ebusweni noma i-plaque eyodwa ye-fibroma ebusweni/ekhanda.
• Ukuba nozipho olulodwa noma uzipho lwezinzwane okungenani olulodwa.
• Ukuba ne-patch eyodwa ye-shagreen okungenani.
• Ukuba nezinhlungu ezingaphezu kwesisodwa ze-retina.
• Ukuba khona kwezicubu ezithile ezikhula ngaphakathi noma phezu kobuchopho.
• Uhlobo olukhethekile lokukhula enhliziyweni.
• Ukuba nohlobo oluthile lwesimila esingesona umdlavuza (isimila esingesona esibi) esithinta amaphaphu, izinso, noma ama-lymph node.

Izici ezincane

• Isilonda sesikhumba se-Confetti.
• Ukuba nemigodi emine noma ngaphezulu ku-enamel yamazinyo.
• Ukuba nezigaxa ezimbili noma ngaphezulu emlonyeni.
• Amaqhubu e-retinal.
• Ukuba nezimila ezingaphezu kweyodwa ezinso.
• Amaqhubu angewona umdlavuza (ukukhula okungekuhle) kwezinye izitho noma izindawo.

Ukuhlolwa kokuxilonga

Ngenxa yokuthi i-tuberous sclerosis (TSC) ingadala izimpawu nemiphumela ehlukahlukene, kunezivivinyo eziningi ezingenziwa. Lezi zivivinyo zizohluka kuye ngezimpawu zakho. Udokotela wakho angachaza kangcono ukuthi yiziphi izivivinyo ozidingayo nokuthi kungani zenziwa. Ngezansi ezinye zezivivinyo ezivame kakhulu ze-tuberous sclerosis (TSC). Ukuhlolwa kwezakhi zofuzo kuyisinyathelo sokugcina sokuqinisekisa ukuxilongwa kwe-TSC kanye nokuhlonza uguquko oluthile ku-TSC gene.

Ukuhlolwa kwezimpawu ezihlobene nobuchopho

Uma unezimpawu ezihlobene nobuchopho, ikakhulukazi uma unesifo sokuwa (noma uma kukhona ubufakazi bokuthi unesifo sokuwa), ungase ube nethuba elikhulu lokuthola izithombe zokuxilonga kanye nezinye izivivinyo. Lokhu kuskena nokuhlolwa kufaka phakathi:

• I-CT scan (i-computed tomography - i-CT scan)
• Ukuskena kwe-MRI (Ukufanekisa kwe-Magnetic resonance - Ukuskena kwe-MRI)
• I-EEG (i-Electroencephalogram - i-EEG) (Lokhu kuhlola umsebenzi kagesi wobuchopho)

Uma udokotela esola ukuthi unesifo sokukhubazeka kwengqondo, angase ancome ukuhlolwa kwengqondo okuqondile. Lokhu kuhlolwa kusiza ekuboneni izinkinga ngendlela ubuchopho bakho kanye nezinqubo zokucabanga ezisebenza ngayo. Lokhu kuvame ukufaka izinkinga noma imisebenzi ehlobene nezinto ezifana nenkumbulo, ukwahlulela, kanye nokwenza izinqumo.

Ukuhlolwa kwezimpawu ezihlobene nesikhumba

Ukuhlolwa ngokomzimba kubaluleke kakhulu ekuxilongweni kwe-tuberous sclerosis (TSC). Izimpawu eziningi zalesi simo zingabonakala ebuntwaneni. Kunezinye izivivinyo ezingasiza udokotela ukuqinisekisa ukuthi une-TSC. Ezivame kakhulu yilezi:

• Ukuhlolwa kwesibani sikaWood : Lokhu ukuhlolwa okungahlaseli okusebenzisa ukukhanya kwe-ultraviolet ukubona ukuthi amabala amaqabunga omlotha ayakhanya yini.
• I-biopsy yesikhumba : Kuthathwa ingxenye encane yesikhumba bese ihlolwa.

Ukuhlolwa kwezinguquko zangaphakathi emzimbeni

Ukuhlolwa kwezakhi zofuzo kuyithuluzi elibalulekile ekuxilongeni i-TSC. Phakathi kuka-75% no-95% weziguli zinezinguquko ku-TSC1 noma i-TSC2 gene. Kungenzeka ukuthi ube nesifo ngaphandle koshintsho olubonakalayo, kodwa lokhu akuvamile.

Izinguquko eziningi ezihlobene ne-TSC ziqala lapho umuntu ekhula njengomntwana osesiswini. Odokotela ngezinye izikhathi bangazibona lezi zinguquko ngesikhathi sokunakekelwa okuvamile kokubeletha, ikakhulukazi ngesikhathi sokuhlolwa kwe-ultrasound , noma nge-CT noma i-MRI scans eyenziwa ngokushesha ngemva kokuzalwa.

Yiziphi izindlela zokwelapha i-tuberous sclerosis (TSC)?

I-Tuberous sclerosis (TSC) ayinakwelashwa ngokuphelele . Kodwa-ke,Amacala amaningi angelashwa. Izindlela zokwelapha ngokuvamile zincike ohlotsheni lwezimpawu onazo. Izindlela zokwelapha ezivame ukusetshenziswa yilezi:

• Imithi : Imithi ingasiza ngezimpawu eziningi ze-TSC. Eminye imithi ingalawula izimpawu ezihlobene nobuchopho, njengokuquleka. Eminye imithi ingelapha izimpawu ezibangelwa izimila nokukhula ezingxenyeni ezahlukene zomzimba.
• Ukuhlinzwa : Kwezinye izimo, ukuhlinzwa kuyadingeka ukuze kususwe izimila ezivele emzimbeni.
• Ukwelashwa kwesikhumba : Lokhu kususa izingxenye ezibonakalayo zamaqhubu (ngokuphelele noma ngokwengxenye) esikhumbeni noma ngaphansi kwaso.

Imithi

Kuye ngezimpawu zakho, udokotela wakho angase akunikeze neminye imithi. Kodwa-ke, lokhu kuvame ukuxhomeke ezintweni eziningi, njengezimpawu zakho, umlando wezempilo, izidingo zakho siqu, kanye nezinto ozithandayo.

Izinhlobo ezahlukene zemithi zingasiza ekwelapheni izimpawu ze-TSC. Kunemithi ebambezela, imise, noma inciphise ukukhula kwezimila. Omunye umuthi ovamile yilowo ovimbela ukuxhuzula. Ukuxhuzula kungenye yezimpawu ezivame kakhulu neziyingozi ze-TSC.

Ukuhlinzwa

Ukukhula okwenzeka nge-TSC ngezinye izikhathi kungabangela izinkinga, kuye ngokuthi kwenzeka kuphi. Ngezinye izikhathi, kudingeka ukuhlinzwa ukuze kususwe ukukhula okubangela izinkinga ezithweni ezahlukene noma ezinhlelweni zomzimba. Udokotela wakho angakutshela okwengeziwe mayelana nokuhlinzwa kanye nezinye izindlela zokwelapha ezitholakalayo kuwe.

Ukwelashwa kwesikhumba

Izimpawu eziningi ze-TSC ziyabonakala. Lokhu kungakwenza uzizwe ukhathazekile, unamahloni, futhi unamahloni. Udokotela wesikhumba angasiza ekunciphiseni noma ekuqedeni izinguquko zesikhumba ezihambisana ne-TSC. Nakuba lezi zindlela zokwelapha zivame ukuba zesikhashana, zingenza umehluko omkhulu empilweni yakho yengqondo.

Ezinye izibonelo zokwelapha isikhumba zezimpawu zesikhumba ezihlobene ne-TSC zifaka:

• I-Cryoablation ( ukubhujiswa kwezicubu ngokusebenzisa umkhuhlane omkhulu)
• Ukulungiswa kabusha kwesikhumba nge-laser (ukulungiswa kabusha kwesikhumba nge-laser )
• Ukususwa kwesikhumba noma ukususwa kwesikhumba (ukukhuhla ubuso besikhumba)
• Ukususwa kwesisu ( ukuhlinzwa okuncane, okufana nokususa uphawu lokuzalwa)
• Ukufakelwa kwesikhumba

Izinkinga/imiphumela emibi yokwelashwa

Imiphumela emibi noma izinkinga ezingaba khona zokwelashwa kwe-TSC ziyahlukahluka kakhulu, ikakhulukazi njengoba kunezimpawu eziningi ezahlukene kanye nezinketho zokwelapha. Ngenxa yalesi sizathu, udokotela wakho angakuchazela kangcono ukuthi yimiphi imiphumela emibi noma izinkinga ongase ube nazo. Angakutshela nokuthi kuzothatha isikhathi esingakanani ukululama ngemva kokwelashwa.

Ingabe ingozi ye-tuberous sclerosis (TSC) ingancishiswa noma ingavinjelwa?

Eqinisweni, ayikho indlela yokuvimbela i-tuberous sclerosis (TSC) . Uma othile emndenini wakho (umzali noma umfowenu noma umfowabo) ene-TSC, ukwelulekwa ngofuzo kungakusiza uqonde ingozi yokuthi ingane yakho ithole lesi simo njengefa nokuthi ngabe kukhona yini izinyathelo ongazithatha ukuze usinciphise. Ochwepheshe bavame ukuncoma lokhu kwelulekwa.

Yini ongayilindela uma une-tuberous sclerosis (TSC)?

Abantu abaningi abane-TSC badinga ukuhlolwa kwezithombe njalo, ikakhulukazi ama-MRI scan, cishe kanye noma kabili ngonyaka. Lokhu kuvame ukuqala ebuntwaneni bese kuqhubeka kuze kube yilapho beneminyaka engaba ngu-21. Abanye abantu badinga ama-scan avamile kukho konke ukuphila kwabo, kungaba ukuhlola ama-growth amasha noma ukuqapha ama-growth akhona.

Imiphumela ye-TSC ingahluka kakhulu kuye ngokuthi ibucayi kangakanani:

• Amacala aphansi : Abantu abanezifo ezincane bangadinga ukuthatha imithi noma bathole ukwelashwa njalo, kodwa lesi simo asikuthinti kakhulu ukuphila kwabo. Laba bantu ngokuvamile bangalindela ukuphila isikhathi sokuphila esifanayo nabantu abangenayo i-TSC.
• Ezimweni eziphakathi nendawo : Ezimweni eziphakathi nendawo, izimpawu zingase zibangele ukuphazamiseka okuthile. Kodwa-ke, ngokwelashwa nokunakekelwa kwezokwelapha okuvamile, le miphumela ingalawulwa. Laba bantu ngokuvamile bangalindela isikhathi sokuphila esijwayelekile noma esifushane kancane.
• Amacala abucayi : Laba bantu bangase babe nokukhubazeka kwengqondo, isifo sokuwa esibi kakhulu, noma ezinye izinkinga. Abanye bangase bangakwazi ukuphila ngokuzimela, noma bangadinga ukunakekelwa kwezokwelapha okunekhono cishe impilo yabo yonke noma yonke.

I-tuberous sclerosis (TSC) ihlala isikhathi esingakanani?

I-Tuberous sclerosis (TSC) iyisimo esihlala njalo, esihlala isikhathi eside .

Ngizinakekela kanjani?

Uma udokotela wakho ekunike imithi, kufanele uyithathe njengoba uyalelwe. Ungayeki ukuthatha imithi ngaphandle kokukhuluma nodokotela wakho. Ukuyiyeka kungazelelwe kungandisa ingozi yokuthi izimpawu zakho zibuye noma zibe zimbi kakhulu.

Ezinye izindlela okufanele uzinakekele ngazo zingahluka kumuntu nomuntu. Ziningi izinto ezithinta lokhu. Udokotela wakho ungumuntu ongcono kakhulu ukukunikeza isiqondiso ngalokho okufanele ukwenze nalokho ongakwenza ukuze uzinakekele futhi uphathe isimo sakho.

Kufanele ngimbone nini udokotela?

Uma une-tuberous sclerosis (TSC), cishe kuzodingeka ubonane nodokotela njalo impilo yakho yonke. Lokhu kuvumela udokotela wakho ukuthi aqaphe isimo sakho futhi aqaphele noma yiziphi izinguquko. Zombili lezi zibaluleke kakhulu ukuvimbela izinkinga ezinkulu ezingase zenzeke nge-TSC.

Kufanele ngiye nini eMnyangweni Wezimo Eziphuthumayo (i-ETU) ?

Kuye ngezimpawu zakho nokuthi ukuquleka kwakho kukuphi, kunezimpawu ezithile ezibonisa ukuthi udinga usizo lwezokwelapha ngokushesha. Esinye sazo ezivame kakhulu yi -Status Epilepticus (SE) .

I-SE yilapho uba nokuquleka okuhlala isikhathi esingaphezu kwemizuzu emihlanu, noma ukuquleka okubili noma ngaphezulu kulandelana ngaphandle kwesikhathi sokululama. I-SE iyisimo esiphuthumayo sezokwelapha esisongela impilo . Uma unomuntu oquleka futhi enesinye salezi zimpawu, kufanele ushayele u-911 (noma inombolo yakho yesimo esiphuthumayo sendawo) ngokushesha.

Ezinye izimpawu ezidinga ukunakekelwa kwezokwelapha zingase zihluke. Udokotela wakho angakuchazela kangcono ukuthi yiziphi izimpawu okufanele uziqaphele nokuthi yini ongayenza uma uzizwa noma uzibona.

Okokugcina, izinto okufanele uzikhumbule

I-Tuberous sclerosis complex (TSC), noma i-tuberous sclerosis, yisimo esingavamile sofuzo esibangela ukukhula okungenawo umdlavuza ezingxenyeni ezahlukene zomzimba, ikakhulukazi ubuchopho noma isikhumba.

Ungakhathazeki. Ngokuthuthuka kwezokwelapha zanamuhla kanye nobuchwepheshe bokuthwebula izithombe, lesi simo singabhekwa futhi siphathwe njengoba kudingeka impilo yonke. Abantu abaningi abane-TSC bangaphila impilo ende nenempilo.

Uma uneminye imibuzo noma ukukhathazeka ngalokhu, qiniseka ukuthi ukhuluma nodokotela wakho. Yibo abangakunikeza iseluleko esinembile nesingcono kakhulu.

I- Tuberous sclerosis, izifo zofuzo, izimila zobuchopho, amabala esikhumba, ukuxhuzula, ukubambezeleka kokukhula, ukwelashwa