Kuyini i-Tuberous Sclerosis? Ungesabi, ake sixoxe ngakho.

Ukhathazekile ngamabala amhlophe engane yakho? Noma ukhathazekile ngokuthi ingane yakho ivame ukuquleka? Imbangela yalezi zimpawu kungaba yisimo esingavamile. Namuhla sizokhuluma ngesinye isimo esingavamile kodwa esilawulekayo. Leso yi-tuberous sclerosis.

Kalula nje, iyini i-tuberous sclerosis?

I-Tuberous Sclerosis Complex (TSC) yisimo esingavamile sofuzo esibangela ukuthi kuvele izimila ezingezona umdlavuza ezingxenyeni ezahlukene zomzimba, ikakhulukazi ezithweni ezifana nobuchopho, isikhumba, izinso, inhliziyo namaphaphu. Kubalulekile ukukhumbula ukuthi lokhu akuwona umdlavuza .

Indlela lesi sifo esithinta ngayo umuntu ngamunye iyahlukahluka kakhulu. Abanye abantu banezimpawu ezimbalwa kakhulu futhi baphila impilo evamile. Kodwa kwabanye abantu, lesi simo singaba sibi kakhulu. Ngakho-ke, kungaba nezinkinga ezinkulu.

Lesi sifo sikhula kancane kancane ngokuhamba kwesikhathi. Nakuba ezinye izimpawu zingase zivele esemncane, ezinye zingathatha iminyaka ukuthi zivele. Ngakho-ke, kubaluleke kakhulu ukuthi umuntu onalesi simo ahlale eqashwe udokotela impilo yakhe yonke.

Ubani othinteka kakhulu yilesi sifo?

Lesi yisimo sokuzalwa. Ngokuvamile, ingane itholakala inalesi sifo lapho inezinyanga ezi-7 ubudala. Kodwa-ke, kungathatha iminyaka ukuthi lesi sifo sitholakale kulabo abanezimpawu ezimbalwa. Noma ubani angasithola lesi sifo, kungakhathaliseki ubulili, uhlanga, noma inkolo. Kulinganiselwa ukuthi cishe abantu abayisigidi emhlabeni wonke banalesi sifo.

Ziyini izimpawu ze-tuberous sclerosis?

Izimpawu zivame ukuncika esithweni lapho iqhubu likhona khona. Ake sihlukanise lezi zimpawu zibe yizigaba ezintathu eziyinhloko.

1. Izimpawu ezihlobene nobuchopho

2. Izimpawu ezihlobene nesikhumba

3. Izimpawu ezihlobene nezinye izitho zomzimba

1. Izimpawu ezihlobene nobuchopho

Izimila ezivame kakhulu kulesi sifo zisebuchosheni. Nakuba lezi zingewona umdlavuza, zingaphazamisa ukusebenza kobuchopho.

• Ukuquleka: Lolu uphawu oluvame kakhulu noluyingozi. Kunezinhlobo eziningi ezahlukene zokuquleka ezingaba khona.
• Izimila zobuchopho: Izimila (i-Subependymal giant cell astrocytoma - SEGA) zingavela kuma-ventricles obuchopho. Uma lezi ziba zinkulu, uketshezi lunganqwabelana ebuchosheni, okubangela isimo esibizwa ngokuthi i-hydrocephalus.
• Ukulibaziseka kokukhula kanye nokukhubazeka kwengqondo: Akuwona wonke umuntu onalokhu, kodwa ezinye izingane zibhekana nokukhubazeka kokufunda kanye nokulibaziseka kokukhuluma.
• Izinkinga zokuziphatha:Izimo ezifana ne-autism spectrum disorder noma i-attention deficit hyperactivity disorder (ADHD) zingase zivele kanye nalesi sifo.

2. Izimpawu ezihlobene nesikhumba

Lesi sifo sivame ukutholakala okokuqala ngezimpawu zesikhumba. Cishe abantu abangu-90% abanalesi sifo bazobhekana nesinye noma ngaphezulu kwalezi zimpawu ezilandelayo:

3. Izici ezihlobene nezinye izitho zomzimba

• Izinkinga zezinso:Amatshe noma ama-cyst ezinso angakheka ezinso. Lokhu kungabangela ukwehluleka kwezinso, ubuhlungu bomhlane noma be-pelvic, kanye negazi emchameni. Akuvamile ukuthi kube nokwehluleka kwezinso noma umdlavuza wezinso (i-renal cell carcinoma).
• Ama-rhabdomyoma enhliziyo: Lawa avame ukubonakala ezinganeni ezincane. Ngokuvamile ayancipha njengoba ingane ikhula. Kodwa-ke, amanye amathumba amakhulu angavimba ukugeleza kwegazi enhliziyweni.
• Izinkinga zamehlo: Nakuba izimila zingakheka ku-retina yeso, izinkinga zokubona azivamile.
• Izinguquko emlonyeni: Ungase uqaphele izinto ezifana namaqhubu amancane ezinsinini noma ukuqhekeka kwe-enamel emazinyweni.

Yini ebangela i-tuberous sclerosis?

Kalula nje, lokhu kubangelwa ushintsho (ukuguquka) kwezakhi zofuzo. Kukhona amaprotheni emzimbeni wethu alawula ukukhula nokuhlukana kwamaseli. Kulesi sifo, kunesici ezizakhi zofuzo eziwayala ukuba akhiqize la maprotheni (abizwa ngokuthi ama-TSC1 noma ama-TSC2 genes). Bese amaseli akhula ngendlela engalawuleki futhi akhe amaqhubu.

Kunezindlela ezimbili lokhu kuphazamiseka kwezakhi zofuzo okungavela ngazo:

1. Okwenzeka ngezikhathi ezithile: Esikhathini esiningi (cishe izingxenye ezimbili kwezintathu), lesi sici sofuzo siyinto entsha. Okusho ukuthi, umama noma ubaba abanaso lesi sifo. Lesi sici sofuzo senzeka ngengozi ngemva kokuba umntwana ekhulelwe.

2. Ifa: Cishe ingxenye eyodwa kwezintathu zamacala, ingane ithola lesi sifo njengefa kumzali onesifo.

Ungasithola kanjani lesi sifo?

Udokotela uxilonga lesi sifo ngokuhlola izimpawu. Lezi zimpawu zihlukaniswe izigaba ezimbili: "izici ezinkulu" kanye "nezici ezincane."

Ngezinye izikhathi, ngenxa yokuthi izimpawu ziyavela ngokuhamba kwesikhathi, lesi sifo singase siqale sihlukaniswe ngokuthi "i-TSC engenzeka."

Ezinye zezivivinyo ezisetshenziswa ukuxilonga lesi sifo yilezi:

• Ebuchosheni: I-MRI noma i-CT scan yobuchopho, ukuhlolwa kwe-EEG ukuhlola ukuxhuzula.
• Kwesikhumba: Ukuhlolwa kwesikhumba, ikakhulukazi ukuhlolwa kwesibani sikaWood ukuze kutholakale amabala amhlophe ngokucacile.
• Kwezinso: I-ultrasound yesisu noma i-MRI scan.
• Kwenhliziyo: I-Echocardiogram.
• Ukuhlolwa kofuzo: Isampula yegazi ingaqinisekisa ukuthi kukhona yini iphutha kuma-gene e-TSC1 noma e-TSC2.

Udokotela wakho uzonquma ukuthi yiziphi izivivinyo ezidingekayo ngokusekelwe ezimpawini zakho.

Yiziphi izindlela zokwelapha lokhu?

I-tuberous sclerosis ayinakwelashwa ngokuphelele. Kodwa-ke, kunezindlela zokwelapha ezisebenzayo zokulawula nokuphatha izimpawu. Ukwelashwa kuncike ohlotsheni lwezimpawu.

• Imithi:
• Ukulawula ukuquleka: Kunezinhlobo ezahlukene zemithi yokuquleka.
• Ukunciphisa izimila: Uhlobo lwemithi olubizwa ngokuthi ama-mTOR inhibitors lungalawula ukukhula kwezimila ebuchosheni, ezinso, nakwezinye izindawo futhi luzinciphise.
• Ukuhlinzwa: Ngezinye izikhathi, izimila ezinkulu ezilimaza izitho zomzimba kungadingeka zisuswe ngokuhlinzwa. Kubaluleke kakhulu ukususa izimila ezivimba ukugeleza koketshezi ebuchosheni.
• Ukwelashwa kwesikhumba: Abanye abantu bangase babe namahloni ngokubonakala kwamaqhubu ebusweni nasesikhumbeni. Ukwelashwa okufana nokulungiswa kwesikhumba nge-laser kanye ne-dermabrasion kunganciphisa ukubukeka kwawo.
• Ezinye izindlela zokwelapha: Izindlela zokwelapha ezifana nokwelashwa kokukhuluma kanye nokwelashwa ngokomsebenzi nazo ziwusizo kakhulu ezinganeni ezinenkinga yokulibaziseka kokukhula.

Yini ongayilindela ngenkathi uphila nalesi sifo?

Abantu abaningi abanalesi sifo badinga ukuhlolwa okufana ne-MRI okungenani kanye njalo eminyakeni eyi-1-2, ikakhulukazi ngesikhathi sobuntwana, ukuze baqaphele ukukhula kwezimila.

Umthelela walesi sifo uyahlukahluka kakhulu kumuntu nomuntu.

• Abantu abanezimpawu ezincane: Izimpawu zincane kakhulu. Kungase kudingeke baphuze imithi ethile. Kodwa bangaphila impilo evamile ngaphandle kokuphazamiseka okukhulu empilweni yabo.
• Labo abanomthelela ophakathi nendawo: Nakuba izimpawu zibangela ukuphazamiseka okuthile, zingaphathwa kahle ngokwelashwa kanye nokubhekwa njalo kwezokwelapha.
• Abathinteke kakhulu: Laba bantu bangase babe nokuquleka okukhulu, ukukhubazeka kwengqondo, njll. Bangase bakuthole kunzima ukuhlala bodwa futhi bangadinga ukunakekelwa kwezokwelapha njalo.

Kufanele ngimbone nini udokotela?

Uma wena noma ingane yakho nine-TSC, kubalulekile ukubona udokotela njalo ngezikhathi ezithile empilweni yenu yonke. Lokhu kungasiza ekutholeni nasekuphatheni noma yiziphi izinkinga ezintsha kusenesikhathi.

Kufanele uye nini e-Emergency Treatment Unit (ETU)?

Ukuquleka okuhlala isikhathi esingaphezu kwemizuzu emi-5 (ukuqina komzimba) noma ukuquleka okuningi kulandelana (isimo se-epilepticus) kuyisimo esiphuthumayo sezokwelapha. Ezimweni ezinjalo, isiguli kufanele siyiswe e-Emergency Treatment Unit (ETU) yesibhedlela ngokushesha.

Ngaphezu kwalokho, uma uba nezimpawu udokotela wakho akutshele ukuthi uziqaphele kakhulu (isib. ikhanda elibuhlungu, ubuhlungu bezinso), funa iseluleko sezokwelapha ngokushesha.