Ðe dzesi siawo le viwòa ŋua? Ðe wòle be míanya nu tso Kearns-Sayre Dɔlélea ŋua?

Ðe viwòa ɖea dzesi wɔnuku siwo gɔme màte ŋu ase o la fiana ɣeaɖewoɣia? Ðewohĩ ède dzesi nane abe ŋkumaʋumaʋu, azɔlizɔzɔ ƒe tɔtrɔ vi aɖe, alo gbɔdzɔgbɔdzɔ ƒe seselelãme le wò ŋutilã me enea? Ekema esia nye nusi ate ŋu anɔ vevie na wò ŋutɔ. Ɣeaɖewoɣi la, esiawo ate ŋu anye atikewɔwɔ ƒe nɔnɔme aɖe si mebɔ kura o, gake wòsɔ be woanya nu tso eŋu, ƒe dzesiwo. Egbea míaƒo nu tso nɔnɔme mawo dometɔ ɖeka ŋu, si woyɔna be Kearns-Sayre Dɔléle.

Nukae nye Kearns-Sayre Dɔlélea?

Kpuie ko la, Kearns-Sayre Dɔléle nye dɔléle si mebɔ kura o si gblẽa nu le lãmekawo kple lãmekawo ŋu. Wogayɔnae be ``KSS'' kpuie. Ŋkuwo koŋue wògblẽa nu le. Ate ŋu akpɔ ŋusẽ ɖe dzi, lãmekawo, kple ahɔhɔ̃ ƒe dɔwɔwɔwo abe tamebubu kple ŋkuɖoɖonudzi ene hã dzi. Zi geɖe la, dzesi siawo dzea egɔme dzena hafi woxɔa ƒe 20 .

Esia nye ` (mitochondrial disorder),` si fia be kuxi aɖe si le akpa sue siwo woyɔna be mitochondria siwo le míaƒe lãmenugbagbeviwo me gbɔe nɔnɔme sia tsona. Nublanuitɔe la, womekpɔ atike blibo aɖeke na esia haɖe o. Gake ne wokpɔe kaba eye wodae nyuie la, ate ŋu akpe ɖe ame ŋu wòaɖu dzesiawo dzi eye wòalé agbenɔnɔ nyui me ɖe asi. Ðɔkta eve siwo ŋkɔe nye Thomas P. Kearns kple George Pomeroy Sayer ye ke ɖe dɔléle sia ŋu zi gbãtɔ le ƒe 1958 me. Esia tae wòxɔ ŋkɔ sia ɖo. Enye nɔnɔme si yia edzi vivivi si nu sẽna ɖe edzi vivivi le ɣeyiɣi aɖe megbe.

Mina míasrɔ̃ nu vi aɖe tso mitochondria, siwo naa ŋusẽ míaƒe ŋutilã ŋu.

Fifia ɖewohĩ ànɔ nusi mitochondria siawo nye kple nusita wole vevie nenema gbegbe ŋu bum. Bu eŋu kpɔ, mitochondria le abe ŋusẽdɔwɔƒe suesuesue siwo le míaƒe ŋutilã ƒe lãmenugbagbevi ɖesiaɖe me ene (negbe ʋumenugbagbevi dzĩwo koe mele eme o). Abe mɔ̃memi si le ʋu me ene la, ŋusẽ si míaƒe ŋutilã hiã be wòawɔ dɔ la ƒe 90% le mitochondria siawo me. Dɔwɔƒe sue siawo xɔa nunyiame siwo le nuɖuɖu siwo míeɖuna me, wozãa ɔksidzin, eye wotrɔa wo wozua ŋusẽ si míaƒe lãmenugbagbeviwo ate ŋu azã.

Eyata bu nusi adzɔ ne mitochondria siawo mewɔ dɔ nyuie o, alo ne wogblẽ ŋu kpɔ? Ekema míaƒe ŋutilã mekpɔa ŋusẽ si hiã o. Esia wɔnɛ be nuɖoanyi vovovo siwo le ŋutilãa me, si nye lãmenugbagbeviwo, lãmekawo, kple ŋutinuwo, ƒe dɔwɔwɔ me gblẽna. Mitochondrial dɔlélewo didi kple wo dada sesẽ vie, elabena wodzea ŋutilã ƒe akpa geɖe dzi, ke menye ɖeka ko o. Togbɔ be dɔléle siawo ƒe dzesiwo ate ŋu ato vovo tso ame ɖeka gbɔ yi bubu gbɔ hã la, zi geɖe la, wova gblẽna ɖe edzi le ɣeyiɣi aɖe megbe. Vevietɔ lãmekawo kple lãmekawo, siwo hiã ŋusẽ geɖe, ye gblẽna wu.

Nukawoe ate ŋu anye nɔnɔme sia ƒe dzesiwo?

Zi geɖe la, Kearns-Sayer ƒe dɔléle (KSS) ƒe dzesiwo dzea egɔme hafi woxɔa ƒe 20 , eye wòdzea ŋku eveawo dzi gbã. Le ɣeyiɣi aɖe megbe la, esia ate ŋu ana ame nazu ŋkuagbãtɔ ɣeaɖewoɣi.

Dzesi gbãtɔ siwo gblẽa nu le ŋkuwo ŋu:

• Nukpɔkpɔ ƒe bu: Nukpɔkpɔ dzi ɖena kpɔtɔna, vevietɔ le teƒe siwo do viviti, abe zã me ene. Esia tso ŋkua ƒe ŋkume ƒe nugbegblẽ gbɔ. Le atikewɔwɔ me la, woyɔa esia be `(pigmentary retinopathy)`.
• Ŋku ƒe ʋuʋudedi: Ŋku ɖeka alo evea siaa ƒe ŋkume ƒe akpa si le etame la ɖiɖina le mɔ si dzi womate ŋu aɖu o nu. Woyɔa esia be `(ptosis)`.
• Ŋku ƒe lãmekawo ƒe gbɔdzɔgbɔdzɔ alo dɔmawɔmawɔ nyuie: Lãmetsi siwo wozãna tsɔ ʋãa ŋkuwo la gbɔdzɔna vivivi. Woyɔa esia be ``ŋku ƒe ʋuʋu le gota si nɔa ŋgɔ yim atraɖii (CPEO)``. Esia ate ŋu ana ɣeaɖewoɣi be manya wɔ be woatrɔ ŋku eveawo ɖe mɔ ɖeka dzi o.

Dzesi bubu siwo dzena tsɔ kpe ɖe ŋkuwo ŋu:

Menye ŋkuwo koe nɔnɔme sia le o. Ate ŋu adze ŋutilã ƒe akpa bubu geɖewo dzi.

• Tosese (Tokunɔnyenye): Tosese dzi ɖena kpɔtɔna vivivi, eye àte ŋu azu tokunɔ keŋkeŋ gɔ̃ hã.
• Nuŋububu ƒe dɔmawɔmawɔ nyuie alo ŋkuɖoɖonudzi ƒe dɔmawɔmawɔ nyuie (tagbɔdɔ): Eva sesẽna be woabu tame, ase nu gɔme, ahasrɔ̃ nu. Ɣeaɖewoɣi la, ŋkuɖoɖonudzi ƒe gbɔdzɔgbɔdzɔ hã ate ŋu adzɔ vivivi.
• Dzidɔ: Dzi ƒe elektrikŋusẽ ƒe dɔmawɔmawɔ nyuie ate ŋu ado mo ɖa le dzia ƒe elektrikŋusẽ ƒe dzesiwo ƒe xexe ta. Esia ate ŋu anye afɔku gã aɖe.
• Lãmetsiŋusẽ ƒe masɔmasɔ (endocrine abnormalities): Le kpɔɖeŋu me, suklidɔ ate ŋu adzɔ. Kuxi bubu siwo do ƒome kple lãmetsiŋusẽ hã ate ŋu ado mo ɖa.
• Protein si dzi ɖe edzi le ahɔhɔ̃mekawo me tsi (CSF): Wokpɔa esia to akɔta ƒe pɔmpi wɔwɔ me.
• Ayiku me kuxiwo.
• Kuxi siwo le azɔlizɔzɔ kple dadasɔ me (ataxia): Dadasɔ ƒe bu, nukikli ne ele zɔzɔm, kple nuwɔwɔ aduadu ƒe anyimanɔmanɔ.
• Alɔ̃madɔmadɔ: Esia mebɔ kura o.
• Kpuie ko: Mele tsitsim wu alesi wòle dzɔdzɔmee o.
• Abɔwo kple afɔwo ƒe gbɔdzɔgbɔdzɔ: Afɔ kple afɔwo sena le wo ɖokui me be agbe mele wo me o, eye lãmekawo hã gbɔdzɔna.

Tsɔe be tsã la, viwòa nɔa fefem vevie, eƒua du henɔa fefem. Gake nyitsɔ laa la, egblɔ be yemete ŋu kpɔa nu nyuie le zã me o, esesẽna na ye be yeƒe susu nanɔ sukudɔdasiwo ŋu, eye yemesena le ye ɖokui me be ŋusẽ le ye ŋu abe tsã ene ne ele zɔzɔm o. Ne edzɔ alea la, nu vevitɔ kekeakee nye be nàdi atikewɔlawo ƒe aɖaŋuɖoɖo evɔ màŋe aɖaba aƒu edzi o.

Nukatae nɔnɔme sia tɔgbe si mebɔ o la dzɔna?

Domenyiŋusẽfianu ƒe tɔtrɔ le DNA si le mitochondria, alo mitochondrial DNA (mtDNA) me gbɔe Kearns-Sayer ƒe dɔlélea (KSS) tsona . mtDNA siae nye lãmenugbagbevi ƒe akpa si tsɔa domenyiŋusẽfianu siwo hiã na mitochondria ƒe dɔwɔwɔ nyuie. Gake numekulawo meka ɖe nusita domenyiŋusẽfianu ƒe tɔtrɔ sia dzɔna dzi haɖe o.

Nu vevitɔe nye be, menye dada alo papa ƒe vodadae nye esia o.Zi geɖe la, domenyiŋusẽfianu ƒe tɔtrɔ siawo dzɔna esime vidzĩa gakpɔtɔ le tsitsim le vidzidɔa me. Ɣeaɖewoɣi la, wotsoa vidada gbɔ yia vi gbɔ (dada ƒe domenyinu), gake nɔnɔmea ate ŋu adzɔ hã ƒome ŋutinya manɔmee. Domenyiŋusẽfianu dodokpɔ ate ŋu akpe ɖe ame ŋu wòanya nenye be domenyiŋusẽfianu ƒe tɔtrɔa nye domenyinu alo nusi dzɔ le vome.

Aleke tututu nèwɔna dea dzesi esia?

Le nyateƒe me la, Kearns-Sayer Syndrome (KSS) ƒe dɔlélea didi ate ŋu asesẽ vie elabena egblẽa nu le ŋutilã ƒe dɔwɔwɔ geɖe ŋu. Àte ŋu ade dzesi dzesi siwo mebɔ o le ɖokuiwò alo viwòa ŋu. Alo ɖɔkta ate ŋu ade dzesi dzesi siawo le atikewɔwɔ me dodokpɔ si wowɔna edziedzi me. Gake ne ède dzesi dzesi siawo dometɔ aɖe la, anyo wu be nàyi ɖɔkta gbɔ enumake.

Ðɔktawo wɔa nusiwo gbɔna tsɔ dea dzesi ``(KSS)`` nɔnɔme sia:

• Míaɖo to wò atikewɔwɔ ŋutinya kple dzesiwo nyuie.
• Wowɔa ŋutilãmedɔdada blibo.
• Dodokpɔ bubuwo: Woate ŋu awɔ aɖuɖɔtoedodokpɔ, ŋkudodokpɔ, to dodokpɔ, ʋudodokpɔ, kple ɖewohĩ akɔta ƒe pɔmpi/akɔta ƒe dodo.
• Domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo kple domenyiŋusẽfianu dodokpɔ: Zi geɖe la, wotsɔa ʋu aɖe wɔa esiae.

Tsɔ kpe ɖe eŋu la, wò ɖɔkta ate ŋu atsɔ wò lãmeka ƒe akpa sue aɖe adoe kpɔ (lãmekawo ƒe dɔwɔwɔ) . Esia adi nane si woyɔna be "ragged-red fibers." Ne esiawo le eme la, efia be lãmekawo ƒe lãmenugbagbeviwo mesɔ o le mitochondrial dɔléle aɖe ta.

Woate ŋu awɔ nɔnɔmetata dodokpɔwo abe esiawo ene hã be woaɖe nɔnɔme bubuwo ɖa:

• `CT scan`
• Electroencephalogram (EEG) (dodokpɔ si dzidzea ahɔhɔ̃a ƒe elektrikŋusẽ ƒe dɔwɔwɔ) .
• Electroretinogram (ERG) (dodokpɔ si wotsɔ dzidzea ŋkume ƒe dɔwɔwɔ) .
• `MRI` alo `ɣeyiɣi ƒe keklẽŋusẽkpɔkpɔ (MRS)`

Dɔléle sia kpɔkpɔ kaba le vevie ŋutɔ hafi woate ŋu adae dzidzedzetɔe. Ne wokpɔ dɔlélea nyuie ko hafi mia kple viwòa miate ŋu akpɔ atike nyuitɔ.

Ðe atike aɖe li na esia? Aleke wokpɔa edzii?

Nublanuitɔe la, atike aɖeke meli na Kearns-Sayer Syndrome (KSS) o. Gake mègatsi dzi o. Dɔlélea didi kaba kple beléle si akpe ɖe ame ŋu ate ŋu akpe ɖe ame ŋu be kuxi siwo ate ŋu ado mo ɖa ƒe afɔkua dzi naɖe akpɔtɔ. Wò ɖɔkta ate ŋu akafu atikewɔmɔnu siwo ate ŋu akpe ɖe mia kple viwòa ŋu miakpɔ woƒe dzesiwo dzi eye woƒe agbenɔnɔ nanyo ɖe edzi.

Kpekpeɖeŋu tso ɖɔkta bibiwo ƒe ƒuƒoƒo aɖe gbɔ

Esi dɔléle sia gblẽa nu le ŋutilã ƒe akpa geɖe ŋu ta la, ebia ɖɔkta siwo bi ɖe dɔ vovovowo me ƒe ƒuƒoƒo aɖe ƒe kpekpeɖeŋu. Wò atikewɔha ate ŋu anye:

• Ŋkudɔdala
• Toseseŋutinunyala `(toŋutinunyala)`
• Dzidɔŋutinunyala
• Dɔlékuiwutikeŋutinunyala
• Domenyiŋusẽfianuŋutinunyala
• Ahɔhɔ̃ŋutinunyala
• Dɔwɔɖuiŋutinunyala alo ŋutilãmedɔdala
• Susu ƒe lãmesẽ ŋuti nunyala (e.g. `ahɔhɔ̃mekawo ƒe tagbɔdɔdala`)

Nukawoe nye atikewɔmɔnuawo?

Taɖodzinu vevitɔ si le atikewɔwɔ ŋue nye be woaɖu dzesiawo dzi eye woaɖe kuxi siwo ate ŋu ado mo ɖa ne nɔnɔmea le gbegblẽm ɖe edzi vivivi la dzi akpɔtɔ.

• Lãmesẽfefewɔwɔ kple dɔdamɔnu: Esiawo kpena ɖe ame ŋu be nuwɔwɔ aduadu, ŋusẽ, kple dadasɔ nanɔ anyi. Wokpena ɖe ŋuwò hã be nàwɔ gbesiagbedɔwo le ɖokuiwò si.
• Atikewo: Wò ɖɔkta ate ŋu aŋlɔ atikewo na dzidɔ, lãmetsiŋusẽ ƒe kuxiwo, alo susu me dzesiwo (e.g., blanuiléle).

Tsɔ kpe ɖe eŋu la, ɖɔkta ate ŋu aɖo aɖaŋu na wò be:

• Tomemɔ̃ alo tomeka (ne ame aɖewo hiãe) .
• Ŋku ƒe ʋuƒo alo ŋkume ƒe dɔwɔwɔ (blepharoplasty) ate ŋu akpe ɖe ŋkuawo ŋu be woaʋu ne ŋkume ƒe ʋuʋudediwo le gegem.
• Folic acid kpeɖeŋutɔ ne folate ƒe agbɔsɔsɔ le ahɔhɔ̃mekawo me tsi (CSF) me le sue.
• Lãmetsiŋusẽ ɖɔliɖɔli ƒe atikewɔwɔ na lãmetsiŋusẽ ƒe gbɔdzɔgbɔdzɔ.
• Insulin alo suklidɔtike bubuwo.
• Dzitodzito me ʋu ƒe dɔwɔwɔ ƒe mɔ̃ dede ame me ne nusiwo mesɔ o siwo ate ŋu ade ame ƒe agbe afɔku me le dzia ƒe elektrikŋusẽ ƒe dzesiwo me.

Atikewɔlawo ƒe ŋkuléle ɖe eŋu edziedzi le vevie na amesi ŋu (KSS) le elabena le ɣeyiɣi aɖe megbe la, ne ŋutilãa ƒe ŋutinu vovovoawo megawɔa dɔ o la, dzesi yeyewo ate ŋu ado mo ɖa. Ðo dze kple wò ɖɔkta edziedzi tso tiatia siwo ate ŋu akpe ɖe ŋuwò nànɔ lãmesẽ me alesi nàte ŋui, ɣeyiɣi didi si nàte ŋui ŋu.

Aleke agbe le kple nɔnɔme sia? Nukae etsɔme ahe vɛ?

Mɔkpɔkpɔ na amesi ŋu Kearns-Sayer ƒe dɔléle (KSS) le nɔ te ɖe alesi woƒe dzesiawo nu sẽe dzi. Ke hã, ame geɖe nɔa agbe kple nɔnɔmea ƒe bla nanewo. Dɔdamɔnu siwo akpe ɖe viwòa ŋu ate ŋu akpe ɖe mia kple viwòa ŋu mianɔ agbe didi eye mianɔ lãmesẽ me. Mègana mɔkpɔkpɔ o.

Mlɔeba la, nu vevitɔ kekeake siwo dzi wòle be woaɖo ŋkui

Enyo, eyata le nusi ŋu míeƒo nu tsoe me la, mele mɔ kpɔm be èse Kearns-Sayre Dɔlélea gɔme vie. Enye nɔnɔme si me kɔ vie, si mebɔ o. Gake ɖo ŋku edzi be:

• De dzesii kaba le vevie ŋutɔ. Ne dzesi siwo mebɔ o le ŋuwò, vevietɔ ne wodze egɔme tso wò ɖevime, abe ŋku, dzi, alo lãmekawo ƒe gbɔdzɔgbɔdzɔ ene la, mègahe atikewɔlawo ƒe aɖaŋuɖoɖo didi ɖe megbe o.
• Domenyiŋusẽfianu ƒe nɔnɔmee nye esia, ke menye ame aɖeke ƒe vodadae o. Eyata mègabu fɔ ɖokuiwò o.
• Togbɔ be womekpɔ atike blibo aɖeke na esia o hã la, atikewɔmɔnu geɖe li siwo ate ŋu akpɔ dzesiawo gbɔ eye woana agbenɔnɔ nanyo ɖe edzi .
• Wɔ dɔ kple ɖɔkta bibiwo ƒe ƒuƒoƒo aɖe be nàwɔ atikewɔwɔ ƒe ɖoɖo aɖe koŋ. Wɔ ɖe wò ɖɔkta ƒe mɔfiamewo dzi ɣesiaɣi.
• Togbɔ be nɔnɔme sesẽ aɖee nye esia hã la, menye wò ɖeka koe o. Ne wodo alɔ wò eye nyatakaka siwo sɔ la, àte ŋu ato esia me.

Ne kuxi sia le fu ɖem na wò alo ame aɖe si nènya la, mele mɔ kpɔm be nyatakaka sia akpe ɖe woawo hã ŋu. Nɔ nyatakakawo xɔm, nɔ lãmesẽ me!

` Kearns-Sayre Dɔléle, mitochondria, domenyiŋusẽfianu ƒe tɔtrɔ, ŋkudɔ, dzidɔ, lãmekawo ƒe gbɔdzɔgbɔdzɔ, ahɔhɔ̃medɔlélewo