Abe dzila ene la, ɖewohĩ èbua viwò suea ƒe lãmesẽ kple eƒe tsitsi ŋu ɣesiaɣi. Ɣeaɖewoɣi la, míedoa go nɔnɔme siwo mebɔ kura o siwo ŋu míesea nu geɖe tsoe o. Domenyiŋusẽfianu ƒe nɔnɔme mawo dometɔ ɖeka si mebɔ o gake wòle vevie enye Cornelia de Lange Dɔléle, alo (CdLS) kpuie. Hafi míavɔ̃ le esia ŋu la, mina míaƒo nu tso eŋu bɔbɔe eye eme nakɔ eye míase nusi wònye gɔme.
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Nuka tututue nye Cornelia de Lan ƒe dɔléle (CdLS)?
Kpuie ko la, (CdLS) nye domenyiŋusẽfianu ƒe nɔnɔme si mebɔ kura o si nɔa anyi le vidzidzi me. Ate ŋu adze ɖevia ƒe ŋutilã ƒe akpa vovovowo dzi. Ne míagblɔe tututu la, tɔtrɔ (trɔtrɔ) si va domenyiŋusẽfianu geɖe siwo do ƒome kple míaƒe ŋutilã ƒe tsitsi me gbɔe wòtsona.
Woate ŋu akpɔ nɔnɔme sia le mɔ vevi eve nu. Ðeka nye nɔnɔme fafɛ , eye evelia nye nɔnɔme si wonya nyuie . Zi geɖe la, ne míele nu ƒom tso dɔléle sia ŋu la, míele nu ƒom tso dɔléle si wonya nyuie ŋu. Gake ɖevi siwo ŋu dɔlélea ƒe nɔnɔme fafɛ le hã ate ŋu aɖe dzesi siawo ke afia, gake le agbɔsɔsɔ sue aɖe me.
Zi geɖe la, wodzia vidzĩ siwo ŋu CdLS le siwo ƒe kpekpeme kple lolome le sue. Woƒe ta ƒe gotagome hã ate ŋu anɔ sue wu vidzĩ dzɔdzɔe tɔ. Le atikewɔwɔ me la, woyɔa esia be microcephaly . Tsɔ kpe ɖe ŋutilã me tɔtrɔ siawo ŋu la, susu kple nuwɔna ƒe kuxi aɖewo ate ŋu anɔ anyi. Ðevi aɖewo hã ate ŋu ahe ɖe megbe le nuƒoƒo me.
Nukae nye nɔnɔme sia ƒe dzesiwo?
Woateŋu akpɔ CdLS ƒe dzesiwo do ŋgɔ na vidzĩa dzidzi alo emegbe. Nu aɖewo li siwo bɔ ɖe ɖevi siwo ŋu dɔléle sia le ƒe dzedzeme me. Woate ŋu akpɔ kuxi siwo le nuɖuɖumeŋusẽ kple susu ƒe tsitsi hã ŋu. Na míalé ŋku ɖe esiawo ŋu le kplɔ̃ dzi.
| Nɔnɔme ƒe ƒomevi | Nusiwo woakpɔ |
|---|---|
| Ŋutilã ƒe nɔnɔme veviwo | |
| Ta kple mo | - Ta si le sue wu esi sɔ (Microcephaly) . - Ŋku ƒe ɖa legbewo - Ŋku ƒe ɖa siwo le titina, siwo le tsɛ alo esiwo le ɣie - Taɖa ƒe fli si le anyime - ŋɔti si trɔ ɖe dzi, si le kpuie - Nuyi siwo le anyigba, siwo le tsɛ - Aɖu kple ŋku siwo dome didi tso wo nɔewo gbɔ |
| Ŋutilã ƒe akpa bubuwo | - Ŋutilã ƒe fu ƒe tsitsi fũ akpa - Kuxi siwo le abɔwo kple afɔwo ƒe tsitsi me - Dzi ƒe gbɔdzɔgbɔdzɔwo - Aɖu si me mã - Cryptorchidism (vidzidɔ si meɖiɖi o le ŋutsuviwo me) . |
| Dɔgbo ƒe Kuxiwo | |
| Kuxi siwo bɔ | - Miléle - Dɔmetɔtrɔ - Ʋuʋudedi - Dɔgbo me yɔyɔ - Nuɖuɖu ƒe dzodzro ƒe vɔvɔ ɣeaɖewoɣi - Dɔgbo me acid ƒe ʋuʋu (GERD) . |
| Susu kple nuwɔna me kuxiwo | |
| Nuwɔna kple tsitsi | - Ŋgɔyiyi si tsi megbe - Nusɔsrɔ̃ ƒe kuxiwo - Nuwɔna ƒe kuxiwo - Susu ƒe Dɔmawɔmawɔ nyuie ƒe Dɔléle (ADHD) . - Dzitsitsi - Autism nɔnɔmewo (Autism) |
Tsɔ kpe ɖe eŋu la, ɖevi aɖewo hã ate ŋu azu nusese kple nukpɔkpɔ ƒe kuxi (le kpɔɖeŋu me, nukpɔkpɔ kpuie).
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CdLS nye nɔnɔme si ate ŋu adze ame sia ame dzi, eɖanye ameƒomevi alo ŋutsu alo nyɔnue o. Zi geɖe la, domenyiŋusẽfianu ƒe tɔtrɔ si dzɔna le eɖokui si eye womekpɔe le ƒome aɖeke me kpɔ o gbɔe wòtsona.
Vaseɖe fifia la, wode dzesi domenyiŋusẽfianu siwo ade 7 siwo hea nɔnɔme si nye CdLS vɛ. Ðevi si ŋu dɔléle sia le ate ŋu atrɔ le domenyiŋusẽfianu siawo dometɔ ɖeka alo esi wu nenema me. Dɔlélea ƒe nɔnɔme kple eƒe sesẽme nɔ te ɖe domenyiŋusẽfianu si me domenyiŋusẽfianu ƒe tɔtrɔa dzɔna le kple alesi wòdzɔnae dzi. Le kpɔɖeŋu me, ɖevi siwo ƒe domenyiŋusẽfianu (NIPBL) ƒe tɔtrɔ ate ŋu akpɔ dzesi siwo nu sẽ wu.
Nu vevitɔ enye be ne ɖevi ɖeka le ƒomea me si CdLS le la, alesi wòate ŋu adzɔe be ɖevi si kplɔe ɖo nadzii la le sue ŋutɔ (anɔ abe 1-2%).
Ke hã, le nɔnɔme siwo mebɔ o me la, ne nɔnɔme si nye CdLS le dzila ɖeka ŋu la, mɔnukpɔkpɔ 50% li be ɖevia anyie dome. Woyɔa esia be (Autosomal dominant) domenyinyi.
Aleke woawɔ anya dɔlélea?
Ne èsusu be dzesi siawo le viwòa ŋu la, ele be afɔɖeɖe gbãtɔ nanye be nàyi ɖeviwo ƒe dɔdala gbɔ .
Ðɔktaa ado ɖevia kpɔ nyuie gbã eye wòabia wò tso viwòa kple ƒomea ƒe atikewɔwɔ ŋutinya ŋu. Woadi ŋutilã me dzesiwo kple dzesi siwo do ƒome kple CdLS koŋ.
Emegbe woate ŋu akafui be woado domenyiŋusẽfianu kpɔ atsɔ aɖo kpe dɔlélea dzi. Esia koŋ dia tɔtrɔ siwo ava domenyiŋusẽfianu siawo me:
- NIPBL
- SMC1A
- RAD21
- SMC3
- HDAC8
Le fufɔɣi la, ultrasound scan le kwasiɖa 18-20 dome ate ŋu ade dzesi nusiwo mesɔ o le vidzĩa ƒe mo alo abɔ kple afɔwo ŋu ɣeaɖewoɣi. Esia ate ŋu ana kpeɖodzi aɖewo tso CdLS ŋu.
Aleke wowɔa atike nɛ?
Ele vevie be nànya esia: Atike aɖeke meli koŋ si ate ŋu ada CdLS keŋkeŋ o. Ke hã, ema mefia be naneke meli míate ŋu awɔ o. Taɖodzinu vevitɔ si le atikewɔwɔ ŋue nye be woakpɔ ɖevia ƒe dzesiwo gbɔ eye woakpe ɖe eŋu wòanɔ agbe si me lãmesẽ le eye dzidzɔ le alesi wòanya wɔe.
Ðɔkta ɖeka mesɔ gbɔ na esia o. Eŋutinunyalawo kple atikewɔla bibiwo ƒe ƒuƒoƒo aɖe tso dɔ vovovowo me va ƒoa ƒu wɔa atikewɔwɔ ƒe ɖoɖo nyuitɔ kekeake na ɖevia. Amewo abe:
- Ðeviwo ƒe dɔdalawo
- Dzidɔŋutinunyalawo - na dzidɔ
- Lãmesẽdɔwɔlawo - be woana ŋutilã ƒe ʋuʋu nanyo ɖe edzi eye woado ŋusẽ lãmekawo
- Nuƒoƒo ƒe dɔléleŋutinunyalawo - na nuƒoƒo kple kadodo ƒe kuxiwo
- Dɔgboŋutinunyalawo - na dɔgbo ƒe kuxiwo
- Ŋkuŋutinunyalawo kple ENT-dɔdalawo
Le go aɖewo me la, ahiã be woawɔ dɔ na ame be woatsɔ aɖɔ aɖu si me ʋuʋu alo dzi ƒe dɔmawɔmawɔ nyuie ɖo. Woate ŋu ana atikewo hã na kuxiwo abe dɔgbo me acid ene. Ðɔkta siwo doa viwòa kpɔe wɔa nyametsotso siawo katã.
Nya kae nàte ŋu agblɔ tso etsɔme ŋu?
Ðewohĩ wò dzi adze eme ne èse nya sia. Ðevi akpa gãtɔ siwo ŋu CdLS le nɔa agbe si sɔ. Gake esi wònye be susu ƒe nuwɔametɔ aɖe le wo ŋu ta la, ahiã be woakpe ɖe wo ŋu ahakpɔ wo dzi vie le woƒe agbemeŋkekewo katã me, vaseɖe woƒe tsitsime gɔ̃ hã. Esia fia be woana nɔnɔme si le dedie na wo be woanɔ ahawɔ dɔ, evɔ woana woanɔ wo ɖokui si vie.
Gake le go siwo mebɔ o me la, kuxi aɖewo ate ŋu ana ame ƒe agbenɔƒe nadidi. Vevietɔ aklãdɔ si gbugbɔna, dzi ƒe dɔmawɔmawɔ nyuie si wodzina, kple nuɖuɖumeŋusẽ ƒe kuxi sesẽwo le afɔku me ne womekpɔe nyuie hedae o.
Eyata nu vevitɔ kekeakee nye be nàna viwòa nanɔ atikewɔlawo ƒe aɖaŋuɖoɖo kple beléle nyuitɔ te. Ne èwɔe alea la, mɔnukpɔkpɔ nyui aɖe asu viwòa si be wòanɔ agbe didi si me dzidzɔ le.
Gbedasi si Wotsɔ Yi Aƒeme
- Cornelia de Lange Dɔléle (CdLS) nye domenyiŋusẽfianu ƒe dɔléle si mebɔ o si nɔa anyi tso esime wodzii.
- Dzesiawo ate ŋu ato vovo ŋutɔ tso ɖevi ɖesiaɖe gbɔ. Dzesi siwo nu mesẽ o ate ŋu anɔ wo dometɔ aɖewo ŋu, gake dzesi sesẽwo ate ŋu anɔ bubuwo ŋu.
- Togbɔ be atike aɖeke meli koŋ na esia o hã la, dzesiawo dzi ɖuɖu ate ŋu akpe ɖe ɖevia ŋu wòanɔ agbe nyuitɔ.
- Ðɔkta kple atikewɔla bibiwo ƒe ƒuƒoƒo aɖe ƒe kpekpeɖeŋu le vevie ŋutɔ na esia.
- Ne ɖikeke aɖe le mewò le viwòa ŋu la, mègahe ɖe megbe o eye nàyi ɖeviwo ƒe dɔdala gbɔ. Ne wokpɔ ɖevi siawo dzi nyuie helɔ̃ wo la, woate ŋu anɔ agbe le dzidzɔ me hã.
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