Ðe dɔléle aɖe si mebɔ o si gblẽa nu le wò ahɔhɔ̃ ƒe ‘nu ɣi’ ŋu la le ŋuwòa? Mina míaƒo nu tso Leukodystrophy ŋu!

Èse nya ‘Leukodystrophy’ ŋu nya kpɔa? Ðewohĩ aɖi nusi wɔ nuku vie eye eyɔyɔ asesẽ, alo? Gake esia nye ŋutinya si ku ɖe dɔléle aɖe si mebɔ o si gblẽa nu le míaƒe lãmekawo ŋu, vevietɔ ahɔhɔ̃ kple aklã ŋu, gake ele vevie ŋutɔ be mí katã míanɔ ŋudzɔ. Ɣeaɖewoɣi la, míetsia dzimaɖi vevie ne ame aɖe si te ɖe mía ŋu, si nye ɖevi sue aɖe, va xɔ nɔnɔme sia. Eyata, mina míaƒo nu tso esia ŋu egbea ko, le mɔ si gɔme nàte ŋu ase nu.

Nukae nye ʋumenugbagbeviɣidɔ sia?

Kpuie ko la, ʋumenugbagbeviɣidɔ nye ahɔhɔ̃mekawo ƒe dɔléle siwo mebɔ o ƒe ƒuƒoƒo. Lãmetsi siwo le míaƒe ahɔhɔ̃ kple aklã me (siwo le abe elektrikka ene) la ƒo xlã nutsyɔnu si kpɔa ame ta, si xea mɔ na ya si woyɔna be myelin . Myelin sia kpena ɖe lãmekawo ƒe gbedasiwo ŋu wozɔna nyuie eye wozɔna kabakaba. Ðɔktawo yɔa myelin ƒe ƒuƒoƒo sia hã be nu ɣi.

Bu eŋu abe aŋekotoku si ƒo xlã elektrikka ene. Ne akɔta ma gblẽ la, elektrikŋusẽa mekɔna nyuie o, eye ate ŋu ana ‘kpuie’ gɔ̃ hã nado. Nenema ke ne ametakpɔnu sia si woyɔna be myelin gblẽ, alo ne mewɔe nyuie o la, míaƒe lãmekawo mete ŋu ɖoa dze kple wo nɔewo nyuie o. Gbedasiwo metoa eme nyuie o. Nusi dzɔna le ʋumenugbagbeviɣidɔ me enye be myelin sia gblẽna ɣesiaɣi. Esia nana be lãmekawo megawɔa dɔ vivivi o. Kadodo si le ahɔhɔ̃a kple ŋutilã ƒe akpa mamlɛa dome la gblẽna.

Aleke gbegbee nɔnɔme sia bɔe?

Le nyateƒe me la, ʋumenugbagbeviɣidɔ menye dɔléle si bɔ ŋutɔ o. Leukodystrophy ƒomevi ɖesiaɖe mebɔ kura o. Le kpɔɖeŋu me, le United States kple Canada la, ʋumenugbagbeviɣidɔ ƒomevi ɖesiaɖe ƒo ƒu gblẽa vi siwo wodzi agbagbee dometɔ ɖeka le 6,000 ɖesiaɖe me va ɖo ɖeka le 100,000 ɖesiaɖe me. Le Asia-dukɔwo me la, woka nya ta be dɔlélea ƒe dzidziɖedzi mede vidzidzi agbagbee etɔ̃ le 100,000 ɖesiaɖe me o.

Nukawoe nye ʋumenugbagbeviɣidɔ ƒe dzesiwo?

Esiae nye esi sesẽ wu. Elabena ʋumenugbagbeviɣidɔ ƒe dzesiwo ate ŋu ato vovo ŋutɔ. Dzesiawo hã toa vovo le dɔlélea ƒomevi nu. Gake le ʋumenugbagbeviɣidɔ ƒomevi akpa gãtɔ me la, lãmekawo ƒe dɔwɔwɔ dzi ɖena kpɔtɔna vivivi . Esia ate ŋu ahe dzesi vovovowo vɛ. Menye amesiamee akpɔ dzesiawo katã o.

Le goawo katã me la, nɔnɔme siawo ate ŋu akpɔ ŋusẽ ɖe nuwo abe:

• Dadasɔ esime nèle zɔzɔm: Azɔlizɔzɔ nyuie ƒe ŋutete manɔamesi, anyidzedze enuenu.
• Ŋusẽ: Sese le ɖokuiwò me be yeƒe abɔwo le ʋuʋum, nuwo kɔklɔ alo wo léle sesẽ na wò.
• Sidzedze: Nusɔsrɔ̃, ŋkuɖoɖo nu dzi, kple susu tsɔtsɔ ɖo nu ŋu sesẽna.
• Nuɖuɖu kple nu mimi: Nuɖuɖu mimi sesẽ, eƒe nutete enuenu.
• Tosese: Tosese ƒe dɔmawɔmawɔ nyuie.
• Ʋuʋu kple nuwɔwɔ aduadu: Mete ŋu ɖu abɔ kple afɔwo dzi nyuie o, dɔwo wɔwɔ ɖe ɖoɖo nu sesẽna.
• Nuƒoƒo: Nuƒoƒo ƒe nuƒoƒo ƒuƒlu, nyawo gbɔgblɔ nyuie ƒe ŋutete manɔamesi, alo nuƒoƒo ƒe ŋutete si bu vivivi.
• Nukpɔkpɔ: Nukpɔkpɔ ƒe gbɔdzɔgbɔdzɔ, ɣeaɖewoɣi la, nukpɔkpɔ megate ŋu kpɔa nu kura o.

Bu eŋu kpɔ, ne ɖevi suee nènye la, ɖewohĩ viwòa ƒe tsitsi anɔ blewu wu ɖevi bubuwo. Ðewohĩ woanɔ blewu le nu yeyewo sɔsrɔ̃, fefe, kple nuƒoƒo me. Esiawo katã dzɔna elabena myelin la gblẽ, eye gbedasi siwo tso ahɔhɔ̃a gbɔ yi ŋutilãa me mezɔna nyuie o.

Ʋumenugbagbeviɣidɔ ƒomevi vevi geɖe

Fifia numekulawo de dzesi ʋumenugbagbeviɣidɔ ƒomevi siwo wu 50 . Eye wogale ƒomevi yeyewo dim kokoko. Domenyiŋusẽfianu ƒe tɔtrɔ vovovo gbɔe ʋumenugbagbeviɣidɔ ƒomevi ɖesiaɖe tsona . Eyae nye domenyiŋusẽfianu siwo le míaƒe ŋutilã me ƒe tɔtrɔ. Azɔ hã, dzesi vovovowoe le ƒomevi ɖesiaɖe ŋu. Ƒe si dzesiawo dzea egɔme hã toa vovo tso ƒomevi ɖesiaɖe gbɔ.

Na míalé ŋku ɖe eƒe kpɔɖeŋu aɖewo ŋu. Esi wònye be axɔ ɣeyiɣi didi akpa be míaɖɔ ƒomevi siawo katã ta la, vevi ʋɛ aɖewo ko ŋue míaƒo nu tsoe.

• Adrenoleukodystrophy (ALD): Esia gblẽa nu le ahɔhɔ̃ kple aklã ƒe nu ɣiwo, kpakple adrenal glands, siwo kpɔa míaƒe lãmetsiwo dzi. Zi geɖe la, dzesiawo dzea egɔme tso ɖevime alo ame tsitsi ƒe gɔmedzedze. Àte ŋu ade dzesi nuwo abe nusɔsrɔ̃ ƒe kuxiwo, nukpɔkpɔ alo nusese ƒe tɔtrɔ, azɔlizɔzɔ sesẽ, ɖeɖiteameŋu, kple lolo dzi ɖeɖe kpɔtɔ ene.

• Ame tsitsiwo ƒe dɔléle si nye autosomal-dominant leukodystrophy (ADLD): Zi geɖe la, esia dzena le amesiwo xɔ ƒe 40 alo 50 kple edzivɔwo me. Ehea kuxiwo vɛ le ŋusẽ, ʋuʋu, kple nuŋububu ŋu. Ate ŋu akpɔ ŋusẽ ɖe nuwo abe ʋu ƒe sisi kple dzi ƒe tsotso ene hã dzi .

• Alexander ƒe dɔléle: Esia wɔnɛ be ɖeviwo ƒe tsitsi tsi megbe, woƒe alɔ̃madɔmadɔ, eye wòsesẽna na wo be woazɔ. Zi geɖe la, edzea vidzĩ yeyewo alo ɖevi suewo dzi. Gake Alexander ƒe dɔléle ƒomevi aɖewo li siwo ate ŋu ahe dzesiwo afia ame tsitsiwo.

• Canavan dɔléle:Le go sia me la, ɖevia ƒe tsitsi hã tsia megbe, ŋutilãa gbɔdzɔna, nuɖuɖu mimi sesẽna, alɔ̃madɔmadɔ dzɔna, ɖevia meɖea dzi ɖi ɣesiaɣi o, eye tɔtrɔ ate ŋu ava le nukpɔkpɔ me. Zi geɖe la, dzesiawo dzena le vidzĩme. Gake avuwo ƒe dɔléle ƒomevi aɖewo li siwo ɖea dzesiwo fiana emegbe.

• Krabbe dɔléle: Wogayɔnae be globoid cell leukodystrophy . Zi geɖe la, dzesiawo dzea egɔme tso vidzĩme. Wo dometɔ aɖewoe nye gbɔdzɔgbɔdzɔ, no nana sesẽ, dzimaɖitsitsi, tsitsi ƒe megbetsitsi, ahɔhɔ̃mekawo ƒe dɔléle ( lãmekawo ƒe ʋuʋu kple ʋuʋudedi le eƒe afɔwo ŋu), kple alɔ̃madɔmadɔ. Ɣeaɖewoɣi la, dzesiawo ate ŋu adze le eƒe tsitsime.

• Metachromatic leukodystrophy: Esia ate ŋu adzɔ le vidzĩwo, ɖevi suewo, alo ame tsitsiwo gɔ̃ hã ŋu. Ate ŋu ana tɔtrɔwo nava le tamebubu ŋutete, nuwɔna, nukpɔkpɔ alo nusese, alɔ̃madɔmadɔ, ahɔhɔ̃mekawo ƒe dɔléle, tagbɔdɔléle (ŋkuɖoɖonudzi ƒe bu keŋkeŋ), kple ŋkumaʋumaʋu.

Ƒomevi bubu geɖewo hã li, abe Cerebrotendinous xanthomatosis (CTX) , Ðeviwo ƒe ataxia si me lãmekawo ƒe dɔwɔwɔ le titina (CACH) (si woyɔna hã be vanishing white matter (VWM) dɔléle ), Pelizaeus-Merzbacher dɔléle (PMD) (si dzea ŋutsuviwo koŋ dzi), kple Refsum dɔléle .

Nukatae ʋumenugbagbeviɣidɔ dzɔna?

Nusi koŋ gbɔ esia tsoe nye domenyiŋusẽfianu ƒe tɔtrɔ. Eyae nye tɔtrɔ siwo vaa DNA si le míaƒe ŋutilã me. Tɔtrɔ siawo dzɔna le domenyiŋusẽfianu siwo fiaa mɔ ametakpɔnu sia si woyɔna be myelin ƒe wɔwɔme, alo alesi wòwɔa dɔ nyuie la me. Ne ametakpɔnu sia meli o la, lãmekawo mate ŋu awɔ dɔ nyuie o.

Woate ŋu anyi domenyiŋusẽfianu ƒe tɔtrɔ siawo ƒe dome tso dzilawo gbɔ na wo viwo ɣeaɖewoɣi. Eyae nye be woate ŋu atsɔ wo ayi dzidzimewo me. Gake ɣeaɖewoɣi la, lãmenugbagbeviwo ƒe tɔtrɔ siawo ate ŋu ado mo ɖa le vome hã, ne lãmenugbagbeviwo le tsitsim hele mamam.

Vevietɔ la, domenyiŋusẽfianu ƒe tɔtrɔ ate ŋu anɔ ame aɖewo ŋu si hea ʋumenugbagbeviɣidɔ vɛ gake womaxɔ dɔlélea o. Míeyɔa wo be agbatsɔlawo. Gake dɔlékui siawo ate ŋu atsɔ nugbagbevi si trɔna la ana wo viwo. Ne domenyiŋusẽfianu ƒe tɔtrɔ si hea ʋumenugbagbeviɣidɔ vɛ la, àte ŋu abu domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo nana ŋu . Domenyiŋusẽfiala aɖe alé ŋku ɖe wò ƒome ŋutinya ŋu eye wòakpe ɖe ŋuwò nànya afɔku si le eme be yeatsɔ domenyiŋusẽfianu ƒe tɔtrɔa ayi na viwòwo.

Ðe afɔku aɖewo li siwo gblẽa nu le esia ŋua?

Le nyateƒe me la, afɔku aɖeke koŋ meli si ate ŋu axe mɔ ɖe ʋumenugbagbeviɣidɔ nu o. Esia le alea elabena domenyiŋusẽfianue wònye. Gake wokpɔe be to aɖewo me tɔwo ate ŋu axɔ ʋumenugbagbeviɣidɔ ƒomevi aɖewo vie. Leukodystrophy ƒomevi akpa gãtɔ gblẽa nu le ŋutsuwo kple nyɔnuwo siaa ŋu sɔsɔe. Gake ƒomevi aɖewo, abe Pelizaeus-Merzbacher dɔléle (PMD) ene, dzea ŋutsuviwo koŋ dzi.

Aleke wokpɔa ʋumenugbagbeviɣidɔ?

Wò ɖɔkta abia wò dzesiwo gbã eye wòabia wò ŋutɔ kple wò ƒomea ƒe lãmesẽ ŋutinya. Emegbe woawɔ ŋutilãmedɔ kple ahɔhɔ̃mekawo dodokpɔ.

Àte ŋu awɔ dodokpɔ ʋɛ bubuwo hã:

• Dodokpɔ siwo wowɔna tsɔ doa vidzĩ yeyewo kpɔna: Le dukɔ aɖewo me la, wozãa dodokpɔ siawo tsɔ dea dzesi ʋumenugbagbeviɣidɔ ƒomevi aɖewo.
• Ʋu kple aɖuɖɔ dodokpɔ ( domenyiŋusẽfianu dodokpɔ ): Esiawo ate ŋu ade dzesi domenyiŋusẽfianu ƒe tɔtrɔ le wò DNA me.
• Nɔnɔmetatawo dodokpɔ: Le kpɔɖeŋu me , woate ŋu awɔ MRI-dɔdamɔnu aɖe atsɔ akpɔ alesi nu ɣi siwo le ahɔhɔ̃a kple aklã me le.

Togbɔ be wowɔ dodokpɔ siawo katã hã la, ʋumenugbagbeviɣidɔ didi ate ŋu asesẽ ɣeaɖewoɣi elabena dzesiawo to vovo ŋutɔ. Ɣeaɖewoɣi la, womekpɔa ʋumenugbagbeviɣidɔ geɖe dzea sii o.

Nukawoe nye ʋumenugbagbeviɣidɔ ƒe atikewo?

Esiae nye nu vevitɔ kekeake si wòle be mí katã míanya. Womekpɔ atike aɖeke na ʋumenugbagbeviɣidɔ haɖe o. Gake ema mefia be naneke meli míate ŋu awɔ o. Nu geɖe li míate ŋu awɔ atsɔ aɖu dzesiawo dzi, ana agbea nanɔ bɔbɔe vie, eye míakpɔ lãmekawo ƒe dɔwɔwɔ aɖewo ta.

Atikewɔwɔ siawo ate ŋu anye:

• Atike na alɔ̃madɔmadɔ, lãmekawo ƒe tete, kple ʋuʋu ƒe kuxiwo.
• Nunyiame ƒe atikewɔwɔ alo nuɖuɖu ƒe mɔ̃wo zazã hena nuɖuɖu kple nu mimi ƒe kuxiwo.
• Lãmetsiŋusẽ ƒe atikewɔwɔ na kuxi siwo le adrenal gland ƒe dɔwɔwɔ ŋu.
• Lãmesẽfefewɔwɔ, dɔwɔwɔ ƒe atikewɔwɔ, kple nuƒoƒo ƒe atikewɔwɔ be woana aɖaŋuwo abe azɔlizɔzɔ, dadasɔ, kple nuƒoƒo ene nanyo ɖe edzi.

Domenyiŋusẽfianu ƒe atikewɔwɔ nye atike yeye aɖe si woate ŋu azã na ʋumenugbagbeviɣidɔ ƒomevi aɖewo. Ebia be woatsɔ domenyiŋusẽfianu ade lãmenugbagbeviwo me be woatrɔ alesi wowɔa protein aɖewoe.

Lãmenugbagbeviwo dodo na ame alo ƒumeŋuɖui dodo ate ŋu ana ʋumenugbagbeviɣidɔ ƒomevi aɖewo ƒe dzesiwo nanyo ɖe edzi. Gake dɔléle ʋɛ aɖewo koe atikewɔwɔ sia wɔa dɔ nyuie. Ne wokpɔ ahɔhɔ̃mekawo ƒe xanthomatosis (CTX) kaba la, woate ŋu azã atike si woyɔna be chenodeoxycholic acid (CDCA) atsɔ adae.

Tsɔ kpe ɖe eŋu la, wole dɔdamɔnu dodokpɔ geɖe wɔm fifia be woatsɔ adi ʋumenugbagbeviɣidɔ ƒomevi aɖewo ƒe atikewo. Eyata ne dɔléle sia le ŋuwò alo viwòa ŋu la, àte ŋu aƒo nu kple wò ɖɔkta akpɔe ɖa be atikewɔmɔnu yeye sia sɔ na wò hã.

Nukae nye agbenɔƒe si wokpɔa mɔ na le ʋumenugbagbeviɣidɔ ŋu?

Esia nye nyati sesẽ aɖe si ŋu woate ŋu aƒo nu tsoe. Leukodystrophy nye dɔléle si yia edzi ɖaa si hea kuxiwo vɛ na lãmekawo le ɣeyiɣi aɖe megbe. Ðevi geɖe siwo ŋu ʋumenugbagbeviɣidɔ le kuna hafi va ɖoa tsitsime. Ke hã, ame aɖewo nɔa agbe va ɖoa tsitsime. Togbɔ be zi geɖe la, dɔléle siawo wua ame hã la, dɔdamɔnu yeyewo kple dɔdamɔnu dodokpɔwo na mɔkpɔkpɔ aɖe va li na amesiwo ŋu dɔlélea le.

Nu vevitɔ kekeake siwo dzi wòle be míaɖo ŋkui (Take-Home Message) .

Leukodystrophy nye dɔléle si mebɔ o, si ƒe dome wonyi le lãmekawo me. Egblẽa nu le ametakpɔnu si woyɔna be myelin si ƒo xlã lãmeka siwo le ahɔhɔ̃a kple aklã me ŋu. Ne myelin meli o la, lãmekawo mate ŋu aɖo dze nyuie o, si wɔnɛ be dzesi vovovowo dzena.

Togbɔ be womekpɔ atike na esia haɖe o hã la, atikewo kple atike vovovowo li siwo dzi woato aɖu dzesiawo dzi eye woana agbea nanɔ bɔbɔe. Numekuku yeyewo ɖee fia be wokpɔ dzidzedze le nɔnɔme siawo dada me. Ðo ŋku edzi be viwòa ƒe atikewɔlawo ƒe ƒuƒoƒo nɔa gbɔwò ɣesiaɣi, eye wokpɔa viwòa dzi nyuie wu. Ele vevie ŋutɔ be nàgatsi dzodzodzoe o, nàdi atikewɔlawo ƒe aɖaŋuɖoɖo kaba eye nànya nyatakaka siwo sɔ.

` Leukodystrophy, myelin, nu ɣiwo, ahɔhɔ̃medɔlélewo, domenyiŋusẽfianu ƒe tɔtrɔ, ɖeviwo ƒe dɔlélewo, lãmekawo ƒe dɔwɔwɔ