Ðe wòdze abe viwòa le tsitsim kabakaba akpa enea? Mina míasrɔ̃ nu tso Cockayne Dɔlélea ŋu!

Ɣeaɖewoɣi la, vɔvɔ̃ ɖoa mí ŋutɔ ne míekpɔ tɔtrɔ aɖewo le mía viwo ƒe tsitsi me, alo? Vevietɔ ne ɖevia ƒe nuwɔna to vovo na ɖevi bubuwo tɔ, alo ne míekpɔ ŋutilã me tɔtrɔwo. Egbea míele nu ƒom tso atikewɔwɔ ƒe nɔnɔme si mebɔ o gake wòle vevie ŋutɔ alea si wòle be míanya ŋu. Emae nye Cockayne Dɔléle. Ðewohĩ àtsi dzi ne èse ŋkɔ sia, gake mina míaƒo nu tso eŋu bɔbɔe eye eme nakɔ.

Nuka tututue nye Cockayne Dɔlélea?

Kpuie ko la, Cockayne Dɔléle nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o, si ƒe dome wonyi. Le esia me la, lãmenugbagbevi siwo le ɖevia ƒe ŋutilã me metsina nyuie o, eye woɖea tsitsi kabakaba ƒe dzesiwo fiana (progeria) . Bu eŋu kpɔ, esime wònye ɖevi sue gɔ̃ hã la, eƒe dzedzeme kple ŋutilã ƒe dɔwɔwɔ aɖewo dzea egɔme nɔa abe ame tsitsi tɔ ene.

Woate ŋu akpɔ dzesi vevi bubu geɖewo tsɔ kpe ɖe nɔnɔme sia ŋu:

• Kekeli ƒe seselelãme: Ne míagblɔe tututu la, ŋutigbalẽa fiãna kabakaba ne edze ŋdɔ me, eye ŋkuwo hã mevona o.
• Dwarfism: Ðevia ƒe kɔkɔme kple eƒe kpekpeme mede nenema kura o.
• Tagbɔdɔ si yia edzi ɖaa: Le ɣeyiɣi aɖe megbe la, nuwo abe ŋkuɖoɖonudzi kple nusɔsrɔ̃ ƒe ŋutete ene ate ŋu aɖiɖi vivivi.

Ðe Cockayne Dɔléle ƒomevi vovovowo li?

Ẽ, nɔnɔme sia ƒomevi vevi etɔ̃e li, eye wo dometɔ ɖesiaɖe ƒe gɔmedzedze kple eƒe sesẽme to vovo.

1. Ƒomevi 1 (klasik): Esiae nye ƒomevi si bɔ wu. Dzesiawo dzea egɔme dzena ne ɖevia xɔ abe ƒe ɖeka ene. Dzesi siawo dzina ɖe edzi vivivi le ɣeyiɣi aɖe megbe.

2. Ƒomevi 2 (si wodzina): Esiae nye ƒomevi si nu sẽ wu. Dzesiawo dzena le vidzidzi me. Ðevi siawo tsina blewu ŋutɔ.

3. Ƒomevi 3: Esia mebɔ kura o. Dzesiawo mesẽna nenema gbegbe o. Azɔ hã, dzesi siawo dzena le eƒe tsitsime.

Aleke gbegbee nɔnɔme sia bɔe?

Cockayne Syndrome nye dɔléle si mebɔ kura o. Woka nya ta be nɔnɔme sia dzɔna ɖe vidzĩ yeye miliɔn ɖesiaɖe dometɔ eve va ɖo etɔ̃ ko dzi le dukɔwo abe Amerika kple Europa ene. Woate ŋu akpɔ dɔnɔ mawo tɔgbe ɣeaɖewoɣi le Sri Lanka hã.

Nukae hea Cockayne Dɔlélea vɛ?

Esia sesẽ vie, gake maɖe eme bɔbɔe. Nane si woyɔna be DNA le míaƒe ŋutilã ƒe lãmenugbagbeviwo me. Ele abe agbalẽ si me nyatakaka siwo katã míaƒe ŋutilã hiã be wòate ŋu awɔ dɔ le ene. DNA sia ateŋu agblẽ le susu vovovowo ta. Le kpɔɖeŋu me:

• Kekeli ƒe keklẽ
• Atike siwo me aɖi le
• Ultraviolet keklẽ si tso ɣea gbɔ
• Molekyul siwo meli ke o siwo dzɔna le míaƒe ŋutilã me (free radicals) .

Zi geɖe la, le ame si le lãmesẽ me ƒe ŋutilã me la, ne DNA sia gblẽ la, mɔnu tɔxɛ aɖe li si dzi woato adzrae ɖo. Abe ale si ko ne nane gblẽ le aƒe aɖe me la, wodzranɛ ɖo ene.

Ke hã, le ɖevi siwo ŋu Cockayne Syndrome le gome la, DNA dzadzraɖo ƒe ɖoɖo sia (DNA repair disorder) mewɔa dɔ nyuie o. Nusitae nye domenyiŋusẽfianu ƒe tɔtrɔ le domenyiŋusẽfianu ERCC6 alo ERCC8 me. Domenyiŋusẽfianu siawo kpena ɖe DNA dzadzraɖo ŋu. Eyata ne domenyiŋusẽfianu siawo mewɔ dɔ nyuie o la, nusiwo gblẽ le DNA ŋu la ƒoa ƒu evɔ womedzra wo ɖo o. Ekema lãmenugbagbeviawo mate ŋu awɔ woƒe dɔ nyuie o. Ema koŋ gbɔe dzesi siawo katã tsona.

Nukae nye Cockayne Dɔléle ƒe dzesiwo?

Nɔnɔme sia ate ŋu agblẽ nu le ŋutilã ƒe akpa vovovowo ŋu. Na míalé ŋku ɖe nusiwo wonye ŋu.

Dzesi siwo do ƒome kple ŋku:

Ŋkuwo nye ŋutinu siwo ŋu dɔléle sia gblẽ nu le wu la dometɔ ɖeka.

• Ŋku ƒe ŋkume ƒe amadede si mesɔ o.
• Ŋku ƒe ŋkumeɖonu ƒe alilikpo dodo, si sɔ kple ŋku ƒe ʋuʋu.
• Ŋku siwo wotso (strabismus).
• Ŋutete manɔanyi be woatu ŋkume keŋkeŋ o.
• Nukpɔkpɔ didi.
• Aɖatsi si dona le ŋkuwo me dzi ɖe kpɔtɔ.
• Nukpɔkpɔ ƒe dɔmawɔmawɔ nyuie.
• Retina ƒe gbɔdzɔgbɔdzɔ vivivi (Retina degeneration).
• Ŋku siwo le sue wu woƒe lolome si sɔ (microphthalmia).
• Ŋku siwo nyrɔ (enophthalmos).

Mo ƒe dzedzeme:

Woate ŋu akpɔ nɔnɔme tɔxɛ aɖewo le mo ƒe dzedzeme hã me.

• Aɖuwo ƒe gbegblẽ ate ŋu adzɔ wu le aɖu siwo mesɔ o ta.
• Earlobes ƒe lolo wu alesi wòle dzɔdzɔmee eye woƒe nɔnɔme trɔna.
• Ta ƒe lolome sue (microcephaly).
• No ƒe ƒuƒuiƒe.
• Aɖu siwo le etame kple esiwo le ete ƒe dodo (prognathism).

Kuxi siwo do ƒome kple lãmetsiŋusẽ:

• Ƒewuiwo ƒe heheɖemegbe.
• Vidzidzi ƒe kuxiwo.
• Ŋutsuviwo ƒe vidzidɔ siwo meɖiɖi o.

Nɔnɔme siwo do ƒome kple lãmekawo ƒe dɔwɔwɔ kple tsitsi:

Esiawo kpɔa ŋusẽ ɖe ɖevia ƒe gbesiagbedɔwo dzi vevie.

• Lãmetsiwo ƒe sesẽ si mesɔ o (spasticity).
• Nunya ƒe ŋutetewo ƒe ɖiɖi vivivi.
• Tsitsi ƒe megbetsitsi (e.g., azɔlizɔzɔ ƒe megbetsitsi, nuƒoƒo).
• Nuƒoƒo sesẽ (aphasia).
• Afɔwo ƒe ʋuʋu (Essential tremor).
• Kuxi siwo le ʋuʋu kple nuwɔwɔ ɖekae ŋu (ataxia).
• Nusɔsrɔ̃ ƒe kuxiwo.
• Aɖuɖɔtoe ƒe nɔnɔmewo (Seizures).

Dzesi siwo do ƒome kple ŋutigbalẽ:

• Fifia dzi ɖe kpɔtɔ (anhidrosis).
• Ŋutilãa xɔa abi bɔbɔe eye wòxɔa abi.
• Vuvɔ ƒe seselelãme ne èka asi ŋutigbalẽa ŋu.
• Ŋutilã ƒe amadede ƒe tɔtrɔ blɔ (cyanosis) (vevietɔ le abɔ kple afɔwo me).

Nu bubu siwo wògblẽna le ame ŋu:

• Ʋusɔgbɔdɔ.
• Ami siwo ƒo xlã dzia (ʋukawo ƒe ʋuʋu).
• Aklã ƒe lolome.
• Taɖa ƒe ɣie kaba.
• Kɔkɔme kple kpekpeme le sue ŋutɔ wu alesi wòle be wòanɔ (dwarfism).
• Tosese ƒe kuxi.
• Ƒunukpeƒe gãwo.
• Lãmetsiwo ƒe gbagbã.
• Kyphosis ƒe dɔléle.
• Abɔ kple afɔ didi siwo mesɔ o ne wotsɔe sɔ kple ŋutilã kpui.

Vevietɔ: Menye dzesi siawo katãe adze le ɖevi ɖesiaɖe ŋu o, eye dzesiawo ƒe sesẽ ate ŋu ato vovo tso ɖevi ɖesiaɖe gbɔ.

Aleke wowɔna kpɔa Cockayne Dɔlélea?

Ðɔkta dea dzesi nɔnɔme sia to ŋkuléle ɖe ɖevia ƒe dɔdamɔnu ƒe nɔnɔmewo kple dodokpɔ me tsonu tɔxɛwo ŋu me. Dodokpɔ vevi siwo wowɔnae nye:

• Domenyiŋusẽfianu dodokpɔ: Woɖea ʋu tso ɖevia me hedoa eƒe domenyiŋusẽfianu ERCC6 alo ERCC8 ƒe tɔtrɔwo kpɔna.
• Skin biopsy: Woɖea ŋutigbalẽ ƒe lãkusi sue aɖe hedonɛ kpɔna le nudokpɔƒe be woakpɔ ŋutete si le ŋutilãa ŋu be wòadzra DNA ɖo. Amesiwo ŋu Cockayne Syndrome le la ƒe DNA ɖɔɖɔɖo blewu wu alesi wòle dzɔdzɔmee.

Nu vevi bubu aɖe hã li le dɔléle sia didi me. Eyae nye be ele vevie be woakpɔ ɖɔkta bibi si nya dɔléle sia nyuie. Elabena dɔléle bubuwo li siwo ƒe dzesiwo sɔ kple wo nɔewo (e.g. Hutchinson-Gilford progeria syndrome, Laron syndrome, Seckel syndrome). Eyata be woate ŋu akpɔ dɔlélea nyuie la, ehiã be woate ŋu ade vovototo esia kple dɔléle mawo dome.

Nukawoe nye Cockayne Dɔlélea ƒe atikewo?

Nublanuitɔe la, atike aɖeke meli na Cockayne Syndrome o. Ke hã, ema mefia be naneke meli míate ŋu awɔ o. Taɖodzinu vevitɔ si le atikewɔwɔ ŋue nye be woaxe mɔ ɖe kuxi siwo dɔlélea hena vɛ nu ahada wo. Esia bia be ɖɔktawo ƒe ƒuƒoƒo aɖe si me eŋutinunyala bibi vovovowo le nado alɔe.

Na míalé ŋku ɖe atikewɔmɔnu aɖewo ŋu:

Aɖudɔdada:

• Ehiã be woado aɖuwo kpɔ edziedzi be woatsɔ axe mɔ ɖe aɖu ƒe gbegblẽ nu ahadae.

Ŋkudzikpɔkpɔ:

• Ðewohĩ ahiã be woawɔ dɔ na ŋkudɔ.
• Le ŋku siwo wotso gome la, woate ŋu azã ŋkumeɖonu atsɔ ado ŋusẽ ŋku ƒe lãmeka siwo gbɔdzɔ.
• Glasses na nukpɔkpɔ kpuie.
• Ɣe ƒe ŋkumewu be nàkpɔ wò ŋkuwo ta tso kekeli si klẽna me.

Kpekpeɖeŋu nana nunyiame:

• Nuɖuɖu mimi ate ŋu asesẽ na ɖevi aɖewo. Le nɔnɔme mawo me la, ahiã be woana nuɖuɖu to mɔ̃ si wotsɔ to ŋɔti me yi dɔgboa me (nasogastric tube) alo mɔ̃ si wotsɔ de dɔgboa me tẽ to ŋutigbalẽ me (percutaneous endoscopic gastrostomy - PEG).

Nuƒoƒo, kamedede, kple dɔwɔwɔ ƒe atikewɔwɔ ƒe atikewɔwɔwo:

• Mɔ̃ siwo kpena ɖe ame ŋu be ŋutilãa ƒe dzɔdzɔmenɔnɔme nanɔ anyi (e.g., kɔsɔkɔsɔ).
• Lãmesẽfefewɔwɔ kple dɔwɔwɔ ƒe atikewɔwɔ ƒe atikewɔwɔwo be woatsɔ akpɔ kuxiwo abe azɔlizɔzɔ ƒe kuxiwo ene gbɔ.
• Nuƒoƒo ƒe atikewɔwɔ ƒe atikewɔwɔwo be woana nuƒoƒo kple nu mimi ƒe ŋutete nadzi ɖe edzi.

Atikewɔwɔ bubuwo:

• Hehenana ƒe ɖoɖo tɔxɛwo na tsitsi ƒe megbetsitsi.
• Atike alo nuɖuɖu tɔxɛ aɖe si woatsɔ aɖu ami siwo le dzia me dzi.
• Tomemɔ̃ siwo wozãna na tosese ƒe kuxiwo.
• Atike siwo woatsɔ aɖu lãmekawo ƒe sesẽ (spasticity), ʋuʋudedi, ʋusɔgbɔdɔ, kple asrãdɔ dzi.
• Ɣe ƒe takpɔkpɔ le vevie ŋutɔ. Ema fia be woaɖe ŋdɔkutsu dzatsɛ dzi akpɔtɔ, woado kposɔwo, eye woado awu siwo ƒe abɔwo didi.

Ðe woate ŋu axe mɔ ɖe Cockayne Dɔlélea nua?

Esi wònye domenyiŋusẽfianu ƒe nɔnɔme sia nye ta la, naneke meli míate ŋu awɔ atsɔ axe mɔ ɖe enu o. Ne wodzi ɖevi kple dɔléle sia la, egblẽa nu le wo ŋu le woƒe agbemeŋkekewo katã me.

Gake ne èle ɖoɖo wɔm be yeaɖo ƒome alo èle mɔ kpɔm na vi bubu, eye Cockayne ƒe Dɔléle le wò ƒomea me la, ele vevie ŋutɔ be nàxɔ domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo kple domenyiŋusẽfianu ƒe dodokpɔ. Dodokpɔ siawo ate ŋu ana nànya nenye be ERCC6 alo ERCC8 domenyiŋusẽfianu ƒe tɔtrɔ le mia kple wò zɔhɛa ŋu. Ne nenemae la, domenyiŋusẽfianu ŋuti aɖaŋuɖola ate ŋu aɖe alesi wòanya wɔ be nàdzi vi si ŋu Cockayne Syndrome le la me na wò.

Nukae nye nyagblɔɖi na ɖevi siwo ŋu Cockayne Dɔlélea?

Cockayne Syndrome nye dɔléle si gblẽa nu le ame ƒe agbenɔƒe ŋu. Ðevia ƒe etsɔme nɔ te ɖe dɔléle si ƒomevi wòle dzi.

• Ƒomevi 1: Ame ƒe agbenɔƒe le mama dedie nu tso ƒe 10 va ɖo ƒe 20.
• Ƒomevi 2: Zi geɖe la, ɖevi siawo menɔa agbe wu ɖevimenɔɣi o.
• Ƒomevi 3: Ðevi siawo dometɔ geɖe ate ŋu anɔ agbe vaseɖe woƒe tsitsi ƒe titina.

Aleke wòle be woanɔ agbe kple Cockayne Syndrome?

Ðevia ƒe gbesiagbegbenɔnɔ nɔ te ɖe Cockayne Syndrome ƒomevi si le wo ŋu dzi. Kpekpeɖeŋunana ɖevi siwo ƒe susu kple tsitsime gblẽ ate ŋu akpe ɖe wo ŋu be woƒe agbenɔnɔ nanɔ bɔbɔe vie. Aƒeme kple nutoa me dɔwɔƒewo li be woakpe ɖe gbesiagbedɔwo ŋu. Àte ŋu akpɔ hadomenuwɔna tɔxɛwo gɔ̃ hã.

Ðevi aɖewo dea suku va se ɖe esime woƒe susuŋutetewo dzi ɖena kpɔtɔna. Ame ɖekaɖekawo ƒe hehenana ƒe ɖoɖowo (IEPs) kple nufialawo ƒe kpeɖeŋutɔwo kpena ɖe wo ŋu wosrɔ̃a nu kpe ɖe ɖevi bubuwo ŋu. Gake ɖewohĩ ɖevi siwo ŋu dɔlélea sesẽ le la maɖe vi boo aɖeke tso sukudede me o. Ke boŋ woƒe gbesiagbedɔwo ate ŋu aku ɖe atikewɔwɔ kple atikewɔwɔ siwo akpe ɖe wo ŋu be woƒe dzi nadze eme ŋu.

Vevietɔ ŋutɔ: Amesiwo ŋu Cockayne Syndrome le ate ŋu awɔ nu ɖe ​​atike aɖewo ŋu le mɔ si mebɔ o nu.Vevietɔ ele be woaƒo asa na metronidazole, si nye dɔlékuiwutike si wozãna tsɔ daa dɔlékuiwo. Atike sia ate ŋu ana aklã nawɔ dɔ nyuie eye wòaku gɔ̃ hã le amesiwo ŋu Cockayne Syndrome le gome. Eyata hafi nàna atike aɖeke la, na ɖɔktaa nanya nu tso ɖevia ƒe nɔnɔmea ŋu eme nakɔ.

Mlɔeba la, nusiwo dzi wòle be woaɖo ŋkui (Take-Home Message) .

Cockayne Dɔléle nye dɔléle si mebɔ o, si ƒe dome wonyi, si tso domenyiŋusẽfianu siwo nye ERCC6 alo ERCC8 ƒe tɔtrɔ gbɔ. Ate ŋu agblẽ nu le ɖevi ƒe ŋkuwo, susuŋutete, ŋutigbalẽ, kple dzedzeme ŋu. Togbɔ be ɖevi siawo ƒe agbenɔƒe le kpuie wu mamã dedie hã la, atikewɔwɔ kple kpekpeɖeŋunadɔ vovovowo ate ŋu ana woƒe akɔfafa kple agbenɔnɔ nanyo ɖe edzi.

Ne èsusu be dzesi siawo le viwòa ŋu la, anyo wu be màgatsi dzodzodzoe o, ke boŋ nàyi ɖɔkta bibi gbɔ kaba ale si nàte ŋui. Ne èkpɔ dɔlélea nyuie eye nèdae kaba la, ate ŋu ana gbɔdzɔe geɖe viwòa. Ðo ŋku edzi be menye wò ɖeka koe o, eye ɖɔktawo kple ame bubu geɖewo li siwo ate ŋu akpe ɖe ŋuwò le mɔzɔzɔ sia me.