Nukae nye Tuberous Sclerosis? Mègavɔ̃ o, mina míaƒo nu tso eŋu.

Ðe nètsi dzi ɖe viwò suea ƒe ɣie ŋua? Alo ɖe nètsi dzi be viwòa ƒe lãme nasẽ enuenua? Nusi gbɔ dzesi siawo tso ate ŋu anye nɔnɔme si mebɔ o. Egbea míele nu ƒom tso nɔnɔme mawo dometɔ ɖeka si mebɔ o gake woate ŋu akpɔ egbɔe ŋu. Emae nye tuberous sclerosis.

Kpuie ko la, nukae nye tuberous sclerosis?

Tuberous Sclerosis Complex (TSC) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si nana be dɔdzẽ siwo menye kansa o la dona le ŋutilã ƒe akpa vovovowo, vevietɔ le ŋutinuwo abe ahɔhɔ̃, ŋutigbalẽ, ayiku, dzi, kple lãkusi ene me. Ele vevie be míaɖo ŋku edzi be menye kansae nye esia o .

Alesi dɔléle sia gblẽa nu le ame ɖesiaɖe ŋu la to vovo ŋutɔ. Dzesi ʋɛ aɖewo koe dzena le ame aɖewo ŋu eye wonɔa agbe si sɔ. Gake le ame aɖewo gome la, nɔnɔme sia ate ŋu asẽ wu. Eyata kuxi sesẽwo ate ŋu ado mo ɖa.

Dɔléle sia va doa mo ɖa vivivi le ɣeyiɣi aɖe megbe. Togbɔ be dzesi aɖewo ate ŋu adze le eƒe ɖevime hã la, bubuwo ate ŋu axɔ ƒe geɖe hafi adze. Eyata ele vevie ŋutɔ be amesi ŋu dɔléle sia le nanɔ ɖɔkta ƒe dzikpɔkpɔ te le eƒe agbemeŋkekewo katã me.

Amekawoe dɔléle sia gblẽa nu le wu?

Esia nye nɔnɔme si wodzina. Zi geɖe la, wokpɔa dɔléle sia le ɖevi ŋu ne woxɔ abe ɣleti 7 ene. Ke hã, ate ŋu axɔ ƒe geɖe hafi woate ŋu akpɔ dɔlélea le amesiwo ƒe dzesiwo mesɔ gbɔ o ŋu. Amesiame ate ŋu axɔ dɔléle sia, metsɔ le ŋutsu alo nyɔnu nyenye, ameƒomevinyenye, alo subɔsubɔha me o. Wobu akɔnta be dɔléle sia le ame siwo ade miliɔn ɖeka ŋu le xexeame katã.

Nukawoe nye tuberous sclerosis ƒe dzesiwo?

Zi geɖe la, dzesiawo nɔa te ɖe ŋutinu si me ƒunukpeƒea le dzi. Mina míama dzesi siawo ɖe hatsotso vevi etɔ̃ me.

1. Dzesi siwo do ƒome kple ahɔhɔ̃

2. Dzesi siwo do ƒome kple ŋutigbalẽ

3. Dzesi siwo do ƒome kple ŋutilã ƒe ŋutinu bubuwo

1. Dzesi siwo do ƒome kple ahɔhɔ̃

Dɔdzẽ siwo bɔ wu le dɔléle sia me la le ahɔhɔ̃a me. Togbɔ be esiawo menye kansa o hã la, woate ŋu ado kplamatse ahɔhɔ̃a ƒe dɔwɔwɔ.

• Alɔ̃madɔmadɔ: Esiae nye dzesi si bɔ wu eye afɔku le eme. Alɔ̃madɔmadɔ ƒomevi vovovo geɖewo li siwo ate ŋu adzɔ.
• Ahɔhɔ̃ me dɔdzẽ: Dɔdzẽ (Subependymal giant cell astrocytoma - SEGA) ate ŋu adzɔ le ahɔhɔ̃a ƒe ʋukawo me. Ne esiawo va lolo la, tsi ate ŋu aƒo ƒu ɖe ahɔhɔ̃a me, si ahe nɔnɔme aɖe si woyɔna be tsi si nye hydrocephalus vɛ.
• Tsitsi ƒe megbetsitsi kple susu ƒe dɔmawɔmawɔ nyuie: Menye amesiamee si nusiawo le o, gake ɖevi aɖewo toa nusɔsrɔ̃ ƒe kuxiwo kple nuƒoƒo ƒe megbetsitsi.
• Nuwɔna me kuxiwo:Nɔnɔmewo abe autism spectrum disorder alo attention deficit hyperactivity disorder (ADHD) ate ŋu adzɔ ɖekae kple dɔléle sia.

2. Dzesi siwo do ƒome kple ŋutigbalẽ

Zi geɖe la, ŋutigbalẽ ƒe dzesiwo dzie wokpɔa dɔlélea le gbã. Ame siwo ŋu dɔlélea le dometɔ siwo ade 90% akpɔ dzesi siwo gbɔna la dometɔ ɖeka alo esi wu nenema:

3. Nɔnɔme siwo do ƒome kple ŋutilã ƒe ŋutinu bubuwo

• Ayikukuxiwo:Ayiku me kpewo alo ƒunukpeƒetetedɔ ate ŋu adzɔ le ayikuawo me. Esia ate ŋu ana ayiku nawɔ dɔ nyuie o, akɔta alo akɔta nase veve, eye ʋu nage ɖe aɖuɖɔ me. Ƒã hafi ayiku ƒe dɔmawɔmawɔ nyuie alo ayiku me kansa (ayiku me lãmenugbagbeviwo ƒe dɔdzẽ) ate ŋu adzɔ.
• Dzi ƒe rhabdomyomas: Ðevi suewo ŋue wokpɔa esiawo le wu. Zi geɖe la, woɖiɖina ne ɖevia le tsitsim. Gake dɔdzẽ gã aɖewo ate ŋu axe mɔ na ʋu ƒe sisi yi dzia me.
• Ŋku ƒe kuxiwo: Togbɔ be dɔdzẽ ate ŋu adzɔ le ŋkua ƒe ŋkume hã la, nukpɔkpɔ ƒe kuxiwo mebɔ kura o.
• Tɔtrɔ siwo vaa nu me: Àte ŋu ade dzesi nuwo abe aɖuɖɔtoe suesuesuewo alo aɖuɖɔtoewo ƒe dowo ene.

Nukae hea tuberous sclerosis vɛ?

Kpuie ko la, tɔtrɔ (trɔtrɔ) si va le domenyiŋusẽfianuwo me gbɔe esia tsona. Protein aɖewo le míaƒe ŋutilã me siwo kpɔa lãmenugbagbeviwo ƒe tsitsi kple mama dzi. Le dɔléle sia me la, gbɔdzɔgbɔdzɔ aɖe le domenyiŋusẽfianu siwo fiaa mɔ wo be woawɔ protein siawo (siwo woyɔna be TSC1 alo TSC2 domenyiŋusẽfianuwo) ŋu. Emegbe lãmenugbagbeviawo tsina le mɔ si dzi womate ŋu aɖu o nu eye wowɔa ƒuƒoƒo.

Mɔ eve li siwo dzi domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ sia ate ŋu ato:

1. Edzɔna ɣeaɖewoɣi: Zi geɖe (anɔ abe akpa eve le etɔ̃ me ene) la, domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ sia nyea nu yeye. Eyae nye be, dɔlélea mele vidadaa alo fofoa siaa ŋu o. Domenyiŋusẽfianu sia dzɔna le vome le ɖevia ƒe fufɔfɔ megbe.

2. Domenyinu: Le go siwo ade akpa etɔ̃lia me la, ɖevi nyia dɔlélea ƒe dome tso dzila si ŋu dɔlélea le gbɔ.

Aleke woawɔ anya dɔlélea?

Ðɔkta aɖe dea dzesi dɔléle sia to dzesiawo me dzodzro me. Woma dzesi siawo ɖe hatsotso eve me: "nɔnɔme veviwo" kple "nɔnɔme suewo."

Ɣeaɖewoɣi la, esi dzesiawo doa mo ɖa le ɣeyiɣi aɖe megbe ta la, woate ŋu abu dɔlélea le gɔmedzedzea me be enye "TSC si ate ŋu adzɔ."

Dodokpɔ siwo wozãna tsɔ dea dzesi dɔlélea dometɔ aɖewoe nye:

• Le ahɔhɔ̃a gome: MRI alo CT scan of the brain, EEG test be woakpɔe ɖa be alɔ̃dɔdɔ hã.
• Le ŋutigbalẽ gome: Ŋutilã dodokpɔ, vevietɔ Wood ƒe akaɖi dodokpɔ be woade dzesi teƒe ɣiwo nyuie.
• Le ayiku gome: Ƒodo me ultrasound alo MRI scan.
• Le dzia gome: Echocardiogram.
• Domenyiŋusẽfianu dodokpɔ: Ʋu si woɖe tso ʋu me ate ŋu aɖo kpe edzi nenye be gbɔdzɔgbɔdzɔ aɖe le TSC1 alo TSC2 domenyiŋusẽfianuwo ŋu.

Wò ɖɔkta anɔ te ɖe wò dzesiwo dzi atso nya me le dodokpɔ siwo hiã ŋu.

Nukawoe nye atike siwo wozãna na esia?

Womate ŋu ada tuberous sclerosis keŋkeŋ o. Gake atikewɔmɔnu nyui aɖewo li siwo dzi woato aɖu dzesiawo dzi ahakpɔ wo gbɔ. Atikewɔwɔ nɔ te ɖe dzesiawo ƒe nɔnɔme dzi.

• Atikewo:
• Be woaɖu alɔ̃madɔmadɔ dzi: Atike vovovowo li na alɔ̃madɔmadɔ.
• Be woaɖe dɔdzẽwo dzi akpɔtɔ: Atikewo ƒe hatsotso aɖe si woyɔna be mTOR inhibitors ate ŋu akpɔ dɔdzẽ ƒe tsitsi le ahɔhɔ̃, ayiku, kple teƒe bubuwo dzi eye wòaɖe wo dzi akpɔtɔ.
• Amekoko: Ɣeaɖewoɣi la, ahiã be woawɔ dɔ na dɔdzẽ gã siwo le nu gblẽm le ŋutinuwo ŋu. Ele vevie ŋutɔ be woaɖe dɔdzẽ siwo le mɔ xem na tsi ƒe sisi le ahɔhɔ̃a me la ɖa.
• Atikewɔwɔ na ŋutigbalẽ: Ame aɖewo ate ŋu akpe ŋu le mo kple ŋutigbalẽ ƒe ƒoƒo ƒe dzedzeme ta. Atikewɔwɔ abe laser ŋutigbalẽ gbugbɔgadze kple ŋutigbalẽ ƒe ʋuʋu ene ate ŋu aɖe woƒe dzedzeme dzi akpɔtɔ.
• Atikewɔwɔ bubuwo: Atikewɔwɔ abe nuƒoƒo ƒe atikewɔwɔ kple dɔwɔwɔ ƒe atikewɔwɔ ene hã kpena ɖe ɖevi siwo ƒe tsitsi tsi megbe la ŋu ŋutɔ.

Nukae nàte ŋu akpɔ mɔ na esime nèle agbe kple dɔléle sia?

Ele be woawɔ scan na ame geɖe siwo ŋu dɔléle sia le abe MRI ene zi ɖeka ya teti le ƒe 1-2 ɖesiaɖe me, vevietɔ le ɖevime, be woalé ŋku ɖe dɔdzẽawo ƒe tsitsi ŋu.

Dɔlélea ƒe ŋusẽkpɔɖeamedzi toa vovo ŋutɔ tso ame ɖeka gbɔ yi bubu gbɔ.

• Ame siwo ƒe dzesiwo mesẽ o: Dzesiawo nu mesẽna kura o. Ðewohĩ ahiã be woano atike aɖewo. Gake woate ŋu anɔ agbe si sɔ evɔ womagblẽ nu gã aɖeke le woƒe agbenɔnɔ ŋu o.
• Amesiwo kpɔa ŋusẽ ɖe ame dzi le mɔ si sɔ nu: Togbɔ be dzesiawo hea tɔtɔ aɖewo vɛ hã la, woate ŋu akpɔ wo gbɔ nyuie ne wowɔ atike na wo eye wokpɔ wo dzi edziedzi.
• Egblẽa nu le ame ŋu vevie: Ame siawo ate ŋu axɔ alɔ̃dɔdɔ vevie, susu ƒe dɔmawɔmawɔ nyuie, kple bubuawo ate ŋu asesẽ na wo be woawo ɖeɖe woanɔ agbe eye ate ŋu ahiã be woakpɔ wo gbɔ ɣesiaɣi.

Ɣekaɣie wòle be makpɔ ɖɔkta?

Ne TSC le ŋuwò alo viwòa ŋu la, ele vevie be nàyi ɖɔkta gbɔ edziedzi le wò agbemeŋkekewo katã me. Esia ate ŋu akpe ɖe ŋuwò nàde dzesi kuxi yeye ɖesiaɖe ahadae kaba.

Ɣekaɣie wòle be nàyi Atikewɔwɔ Kpata ƒe Dɔwɔƒe (ETU)?

Alɔ̃madɔmadɔ si xɔa wu miniti 5 (fit) alo alɔ̃madɔmadɔ zi geɖe ɖe wo nɔewo yome (status epilepticus) nye atikewɔwɔ kpata. Le nɔnɔme mawo me la, ele be woakplɔ dɔnɔa ayi kɔdzi ƒe Atikewɔwɔ Kpata ƒe Dɔwɔƒe (ETU) enumake.

Tsɔ kpe ɖe eŋu la, ne dzesi siwo wò ɖɔkta gblɔ na wò be nàɖɔ ŋu ɖo etɔxɛe (e.g., taɖuame sesẽ, ayiku ƒe vevesese) dze ŋuwò la, di atikewɔlawo ƒe aɖaŋuɖoɖo enumake.