Ðe viwò suea mele lolom ɖe edzi abe alesi nèkpɔ mɔe ene oa? Alo ɖe ɖeɖi tea eŋu hedɔa alɔ̃ ɣesiaɣia? Ɣeaɖewoɣi la, le nusiawo megbe la, atikewɔwɔ ƒe nɔnɔme aɖe ate ŋu anɔ anyi si ŋu míesea nu geɖe tsoe o, gake ate ŋu anɔ vevie ŋutɔ. Egbea míele nu ƒom tso nɔnɔme sia tɔgbe ŋu. Emae nye lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe vodada siwo wodzina, alo le atikewɔwɔ me la, nɔnɔme si woyɔna be Inborn Errors of Metabolism (IEM) . Mègavɔ̃ o, ne ŋkɔa sesẽ vie hã la, mina míaƒo nu tso eŋu bɔbɔe.
Nukae nye ‘lãmenugbagbeviwo ƒe dɔwɔwɔ’ sia?
Kpuie ko la, míaƒe ŋutilã le abe ʋu ƒe mɔ̃ ene. Nuɖuɖu si míeɖuna henonae nye ami si naa ŋusẽ mɔ̃ sia. Lãmetsiŋusẽ ƒe dɔwɔwɔ nye mɔ̃memi sia tsɔtsɔ trɔe wòzu ŋusẽ, nusiwo ŋutilã hiã be wòatsi, kple gbeɖuɖɔwo ɖeɖeɖa ƒe mɔnu bliboa. Ne esia le dɔ wɔm nyuie la, míaƒe ŋutilã nɔa lãmesẽ me.
Eyata, vodada si wodzi le lãmenugbagbeviwo ƒe dɔwɔwɔ me (IEM) nye vodada sue aɖe si wodzina le mɔ̃ sia ƒe teƒe aɖe, lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe ɖoɖo sia. Esia wɔnɛ be ŋutilãa mete ŋu trɔa nuɖuɖu aɖewo wozua ŋusẽ nyuie o, alo mete ŋu ɖea aɖi gbegblẽwo ɖa le ŋutilãa me, siwo ƒoa ƒu ɖe ŋutilãa me o.
Nukawoe nye IEM ƒe nyonyome ƒomevi veviwo?
Nɔnɔme mawo tɔgbe alafa geɖe li. Wo dometɔ ɖesiaɖe to vovo. Gake mina míanya ƒomevi ʋɛ aɖewo siwo bɔ wu. Zi geɖe la, wotsɔa enzyme si mewɔa dɔ nyuie o la ƒe ŋkɔ na esiawo.
| Atikewɔwɔ ƒe nɔnɔme ƒomevi | Nukae le dzɔdzɔm ko? |
|---|---|
| Lysosomal ƒe nudzraɖoƒe ƒe kuxiwo | Womate ŋu agbã ŋutilãa ƒe gbeɖuɖɔwo ahaɖe wo ɖa nyuie o. Esia wɔnɛ be aɖinuwo ƒoa ƒu ɖe ŋutilãa me. Kpɔɖeŋuwo: Hurler ƒe dɔléle, Gaucher ƒe dɔléle. |
| Maple syrup ƒe aɖuɖɔdɔléle | Amino acidwo ƒoa ƒu ɖe ŋutilãa me eye wògblẽa nu le lãmekawo ŋu. Ðevia ƒe aɖuɖɔ ʋẽna abe maple-tsi ene. |
| Glycogen dzraɖoƒe ƒe dɔléle | Ŋutilã mete ŋu dzraa sukli (glucose) si le nuɖuɖu me ɖo o, si wɔnɛ be sukli ƒe agbɔsɔsɔ le ʋu me dzi ɖena kpɔtɔna. |
| Mitochondrial dɔlélewo | Ŋutilã ƒe lãmenugbagbeviwo mete ŋu wɔa ŋusẽ si sɔ tso nuɖuɖu me o. Esia gblẽa nu le ŋutinu geɖe, abe ahɔhɔ̃, lãmeka, kple aklã ene ŋu. |
| Ga ƒe lãmenugbagbeviwo ƒe dɔwɔwɔ ƒe kuxiwo | Ga siwo ŋutilãa hiã, abe akɔbli alo gayibɔ ene, ƒoa ƒu ɖe ŋutilãa me wòzua aɖi. Kpɔɖeŋuwo: Wilson ƒe dɔléle, ʋumenugbagbeviɣidɔ. |
| Urea ƒe tsatsam ƒe dɔléle | Womate ŋu aɖe aɖi si nye amonia si dona le ŋutilãa me la ɖa o eye wòƒoa ƒu ɖe ʋua me. |
Nukatae esia dzɔna ɖo? Amekawo dzie esia dzɔna ɖe?
Esiae nye nu vevitɔ kekeake. Domenyiŋusẽfianu ƒe tɔtrɔ aɖe gbɔe nɔnɔme siawo tsona . Eyae nye be menye vidada alo fofoa ƒe vodada aɖeke gbɔe wòtso o. Tɔtrɔ si menya kpɔna dzea sii bɔbɔe o si dzɔna le lãmenugbagbeviwo ƒe mama me ne wofɔ fu na ɖevi gbɔe wòtso.
Domenyiŋusẽfianu siwo le míaƒe ŋutilã me fiaa mɔ mí be míawɔ protein siwo woyɔna be enzyme siwo hiã na lãmenugbagbeviwo ƒe dɔwɔwɔ. Bu enzyme siawo be wonye dɔwɔlawo le míaƒe ŋutilã me. Le IEM gome la, nusi dzɔnae nye be le domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ ma ta la, dɔwɔla siawo mexɔa mɔfiame be woawɔ dɔ nyuie o.
Nɔnɔme sia ate ŋu adze ame sia ame dzi, gake ne dɔléle sia nɔ ƒomea me kpɔ la, afɔku aɖe li be ɖevia hã axɔe.
Nukae nye nɔnɔme sia ƒe dzesiwo?
Dzesiawo ate ŋu ato vovo ŋutɔ tso ame ɖeka gbɔ yi bubu gbɔ eye le dɔléle ƒomevi si le ame ŋu nu. Ɣeaɖewoɣi la, dzesiawo te ŋu menya kpɔna dzea sii bɔbɔe o, gake ɣebubuɣiwo la, woate ŋu asẽ. Dzesi siwo bɔ wu dometɔ aɖewoe nye esi.
- Tsitsi ƒe kpododonu: Kpekpeme alo kɔkɔme ƒe kpododonu.
- Nudzroame:Ðevia ƒe didi be yemaɖu notsi alo ano o.
- Ðeɖiteameŋu kple alɔ̃dɔdɔ atraɖii: Zi geɖe la, ɖevia tsia dzodzodzoe eye mewɔa dɔ o.
- Kpekpeme dzi ɖeɖe kpɔtɔ.
- Fit (alɔ̃madɔmadɔ) ƒe amesinɔnɔ.
- Aɖuɖɔ, fifia, alo gbɔgbɔ ƒe ʋeʋẽ si mebɔ o: Le kpɔɖeŋu me, dɔléle aɖewo ƒe ʋeʋẽ ate ŋu avivi, evɔ bubuwo ya ƒe ʋeʋẽ ate ŋu ato vovo kura.
- Dɔgbo ƒe vevesese kple ʋuʋudedi.
Menye ɖevi ɖesiaɖe si ŋu dzesi siawo le ye ŋu IEM le o, gake ne dzesi siawo dometɔ ɖeka alo esi wu nenema gakpɔtɔ li la, ele vevie be woayi ɖɔkta gbɔ enumake.
Aleke woawɔ ade dzesi nɔnɔme sia?
Dzidzɔtɔe la, egbea la, woate ŋu ade dzesi dɔléle siawo dometɔ geɖe le wo dzidzi megbe kpuie. Le dukɔ aɖewo me la, wokpɔa nusiawo to vidzĩ yeyewo dodokpɔ me. Le Sri Lanka la, wowɔa dodokpɔ siawo hã na dɔléle aɖewo.
Dodokpɔ vevi siwo wozãna tsɔ dea dzesi dɔléleae nye:
- Ʋu kple aɖuɖɔ dodokpɔ (Metabolic testing): Esiawo ate ŋu ade dzesi atike siwo mesɔ o siwo ƒo ƒu ɖe ŋutilãa me.
- Domenyiŋusẽfianu dodokpɔ: Ʋu alo aɖuɖɔ ƒe kpɔɖeŋu ate ŋu akpe ɖe ame ŋu wòanya domenyiŋusẽfianu si tututu gblẽ.
- Amniocentesis: Le fufɔɣi la, woate ŋu atsɔ amniotic tsi si ƒo xlã vidzĩa ƒe kpɔɖeŋu sue aɖe akpɔe ɖa be nɔnɔme sia le vidzĩa ŋu hã.
- Ŋkudodokpɔ: Woate ŋu awɔ ŋkudodokpɔ hã, elabena IEM ƒe nɔnɔme aɖewo ate ŋu akpɔ ŋusẽ ɖe ŋkuwo hã dzi.
Aleke wowɔa atike nɛ?
Atikewɔwɔ ƒe mɔnuwo toa vovo le dɔlélea ƒomevi nu, gake taɖodzinu vevitɔe nye be woaxe mɔ na ŋutilãa be wòagaxɔ nusiwo mate ŋu akpɔ o eye woaɖe aɖi siwo ƒo ƒu ɖe ŋutilãa me la ɖa.
1. Wò nuɖuɖu tɔtrɔ: Esiae nye atike vevitɔ. Ele be woaɖe nuɖuɖu siwo ŋutilã mate ŋu atrɔ asi le o (e.g. protein aɖewo, ami) ɖa keŋkeŋ le nuɖuɖua me. Esia bia be nuɖuɖuŋutinunyala kple ɖɔkta naɖo aɖaŋu.
2. Atike nono: Woate ŋu ana enzyme ɖɔliɖɔli alo atike siwo kpena ɖe ame ŋu be woaɖe aɖi ɖa be woatsɔ aɖo ŋutilãa ƒe enzyme siwo mehiã o la teƒe.
3. Dialysis: Le nɔnɔme sesẽ aɖewo me la, ahiã be woaɖe aɖi siwo ƒo ƒu ɖe ʋua me la ɖa to mɔ̃ aɖe ƒe kpekpeɖeŋu me.
4. Ŋutinuwo dodo na ame: Le nɔnɔme siwo nu sẽ ŋutɔ me la, ate ŋu ahiã be woado aklã na ame, le kpɔɖeŋu me.
Le nɔnɔme siawo tɔgbe me la, ele vevie be woakpɔ dɔlélea ahadze edada gɔme kaba ale si wòanya wɔ. Esia dzia mɔnukpɔkpɔ si le ɖevia si be wòanɔ agbe si sɔ la ɖe edzi ŋutɔ.
Ɣekaɣie wòle be makpɔ ɖɔkta?
Ne vidada funɔe nènye la, ƒo nu kple wò ɖɔkta tso dodokpɔ siwo woate ŋu awɔ na viwòa ŋu.
Ne dzesi siwo míeyɔ ɖe etame dometɔ aɖe le viwòa ŋu, vevietɔ ne tsitsi ƒe kuxi aɖewo li la, kpɔ egbɔ be yeyi ɖeviwo ƒe dɔdala gbɔ.
Vevietɔ wu: Ne viwòa ƒe lãme gbã alo eƒe lãme sẽ ŋutɔ la, kplɔ wo yi kɔdzi si te ɖe ŋuwò ƒe Atikewɔwɔ Kpata ƒe Dɔwɔƒe (ETU) enumake.
Agbenɔnɔ kple nɔnɔme siawo ate ŋu asesẽ, vevietɔ le nuɖuɖu gome. Gake ne woɖo aɖaŋu nyui na ɖevi siawo le atikewɔnyawo me hewɔ atike na wo la, woate ŋu anɔ agbe si sɔ, si me dzidzɔ le.
Gbedasi si Wotsɔ Yi Aƒeme
- Vodada siwo wodzina le lãmenugbagbeviwo ƒe dɔwɔwɔ me (IEM) nye domenyiŋusẽfianu ƒe nɔnɔme. Menye dzilawo ƒe vodada gbɔe wòtso o.
- Le nɔnɔme sia me la, ŋutilãa mete ŋu trɔa nuɖuɖu wòzua ŋusẽ alo ɖea aɖinuwo ɖa o.
- Ne viwòa mele tsitsim nyuie o, kuviawɔwɔ nɔa eŋu ɣesiaɣi, nuɖuɖu medzronɛ o, alo ʋeʋẽ si mebɔ o le eŋu la, ke di atikewɔlawo ƒe aɖaŋuɖoɖo.
- Dɔlélea didi kaba kple atikewɔwɔ le eƒe agbemeŋkekewo katã me (vevietɔ nuɖuɖu dzi ɖuɖu) ate ŋu akpe ɖe ɖevia ŋu wòanɔ agbe le lãmesẽ me.
- Wɔ ɖe wò ɖɔkta ƒe mɔfiamewo dzi pɛpɛpɛ ɣesiaɣi. Ne ɖikeke le mewò la, bia nya sia zi gbɔ zi geɖe.











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