Nukae nye Dyskeratosis Congenita? Ðe dzesi siawo le viwòa ŋua? Mina míaƒo nu!

Ðe nède dzesi tɔtrɔ aɖewo siwo mebɔ o le viwò ƒe ŋutigbalẽ, ɖa, alo eƒe nu mea? Ɣeaɖewoɣi la, nusiawo adze abe ɖe wosɔ ene, gake domenyiŋusẽfianu ƒe nɔnɔme aɖe si mebɔ o ate ŋu anɔ megbe na wo. Nɔnɔme mawo dometɔ ɖekae nye Dyskeratosis Congenita , si woɖena kpuie ɣeaɖewoɣi be (DC) alo (DKC). Esia aɖi nya sesẽ vie, gake mina míana wòanɔ bɔbɔe eye wòase egɔme bɔbɔe.

Nuka tututue nye Dyskeratosis Congenita?

Kpuie ko la, dyskeratosis congenita nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o. Ate ŋu agblẽ nu le viwòa ƒe ŋutilã ƒe akpa geɖe ŋu. Zi geɖe la, dzesi gbãtɔwo dzena le ŋutigbalẽ, ɖa, kple nu me hafi ɖevia xɔ ƒe 10. Le ɖevi aɖewo gome la, nɔnɔmea ƒe dzesi gbãtɔ ate ŋu anye nane abe ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie ene. Esia ate ŋu ahe kuxi sesẽwo abe kansa ene vɛ ɣeaɖewoɣi le ɖevimenɔɣi, sɔhɛmenɔɣi, alo ame tsitsi me.

Nɔnɔme sia si woyɔna be dyskeratosis congenita la le telomere ƒe nugbagbeŋutinunya ƒe dɔlélewo ƒe hatsotso gã aɖe me . Bu eŋu abe aŋekotoku sue siwo le míaƒe afɔkpa ƒe ka ƒe nuwuwu ene. Esiawo le míaƒe domenyiŋusẽfianu ƒe nuwuwu – xɔtuɖoɖo siwo me míaƒe domenyiŋusẽfianu (DNA) le. Telomere siawo kpɔa míaƒe domenyiŋusẽfianuwo ta. Woawoe nana míaƒe ŋutinuwo kple lãmenugbagbevi siwo le míaƒe ŋutilã me nɔa tsitsim hewɔa dɔ nyuie. Gake le ɖevi si ŋu dyskeratosis congenita le gome la, telomere siawo nɔa kpuie wu alesi wòle be woanɔ. Esia tae kuxi vovovowo doa mo ɖa ɖo.

Telomere dɔléle bubu geɖewo li abe esiawo ene:

• Hoyeraal Hreidarsson ƒe Dɔléle (HH) .
• Revesz ƒe dɔléle (RS) .
• Awudziwuiwo kpe ɖe dɔlélea ŋu

Nukae nye dyskeratosis congenita ƒe dzesiwo?

Numekulawo de dzesi nɔnɔme vevi etɔ̃ gbã le ɖevi siwo ŋu "classic dyskeratosis congenita" (classic DC) le ŋu:

1. Ŋutilã ƒe amadede si mesɔ o: Vidzĩa ƒe kɔ, akɔta ƒe akpa si le etame, kple abɔwo ƒe ŋutigbalẽ ate ŋu adze le nɔnɔme si le abe lãgbalẽ alo ka ene me. Ŋutilã si ŋu dɔlélea le ate ŋu akɔ alo ado viviti wu vidzĩa ƒe ŋutigbalẽ ƒe amadede si sɔ.

2. ɖa ƒe gbagbã alo eƒe bu: Àte ŋu ade dzesii be ʋuʋudedi alo gbagbã le wò asibidɛwo kple/alo afɔbidɛwo me. Woate ŋu avuvu, atsi vivivi, alo anɔ kpuie wu alesi wòle dzɔdzɔmee. Ɣeaɖewoɣi la, wò ɖawo ate ŋu anɔ kpuie wu alesi wòle dzɔdzɔmee, alo woate ŋu abu keŋkeŋ. Tɔtrɔ siawo ate ŋu akpɔ ŋusẽ ɖe ɖa aɖewo ko dzi, evɔ bubuwo ya ate ŋu anɔ anyi abe alesi wòle ene.

3. Leukoplakia: Teƒe ɣi siwo le ɣie ate ŋu adze le ɖevia ƒe aɖe alo eƒe ŋgonu me.

Ðɔktawo yɔa dzesi etɔ̃ siawo be "mucocutaneous triad.""Muco" fia nu ƒe akpa si le nu me, eye "cutaneous" fia ŋutigbalẽ. Gake dyskeratosis congenita nye nɔnɔme sesẽ aɖe ŋutɔ si gblẽa nu le ɖevi ɖesiaɖe ŋu le mɔ vovovowo nu vie.

Le kpɔɖeŋu me, ƒumeŋuɖui ate ŋu adze ɖevi aɖewo dzi hafi dzesi etɔ̃ siawo nadze. Emegbe ɖɔktawo ate ŋu anya dɔléle si nye dyskeratosis congenita ne wole dodokpɔwo wɔm be yewoake ɖe nusi gbɔ ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie tso ŋu.

Dzesi vovovo geɖe ate ŋu anɔ ɖevi bubuwo ŋu siwo adze abe ɖe womedo ƒome kple wo nɔewo o ene, gake dodokpɔ vɔ megbe hafi ɖɔktawo kpɔnɛ be dyskeratosis congenita gbɔe wòtso.

Dzesi bubu siwo ate ŋu ado tso eme:

• Kuxi siwo do ƒome kple ƒuwo: Ƒumeŋuɖui (ƒuwo ƒe ƒuƒu), ƒuwo ƒe gbagbã, kple ƒu siwo le akɔta kple abɔta ƒe ʋuʋu.
• Kansa: Ʋumenugbagbeviɣidɔ, ŋutigbalẽ me kansa , ta/kɔ squamous cell cancer.
• Dadasɔ kple nuwɔwɔ aduadu ƒe kuxiwo: Nuwo abe azɔlizɔzɔ (ataxia) ƒe sesẽ.
• Gbɔdɔdɔ ƒe lãmetsiwo ƒe wɔwɔme dzi ɖe kpɔtɔ (hypogonadism).
• Dɔlélenutsiŋutete ƒe gbɔdzɔgbɔdzɔ (dɔlélenutsiŋutete ƒe gbɔdzɔgbɔdzɔ).
• Aɖukuxiwo: Aɖuwo ƒe gbegblẽ akpa, aɖu siwo mebɔbɔ o.
• Tsitsi ƒe megbetsitsi alo nuwɔametɔnyenye.
• Nuɖuɖutome ƒe ʋuʋu: Esia ate ŋu ana wòasesẽ na nu mimi, aɖuɖɔ, eye wòalolo.
• Fifia si gbɔ eme.
• Taɖa ƒe vuvu alo ɖa ƒe ɣie kaba.
• Aklãdɔléle.
• Aklãdɔlélewo.
• Eƒe kɔkɔme le kpuie .
• Ta sue `(microcephaly)` .
• Aɖuɖɔtoe ƒe ʋuʋu .
• Ŋku siwo me tsi le kple ŋkume ƒe dɔléle.

Nukae hea dyskeratosis congenita vɛ?

Domenyiŋusẽfianu ƒe tɔtrɔ/trɔtrɔ gbɔe dyskeratosis congenita tsona . Etɔxɛe, abe alesi megblɔe va yi ene la, ekpɔa ŋusẽ ɖe domenyiŋusẽfianu siwo kpɔa viwò ƒe telomeres ƒe dɔwɔwɔ dzi .

Ne telomerewo mewɔa dɔ nyuie o la, lãmenugbagbevi siwo le ɖevia ƒe ŋutilã me dometɔ aɖewo mete ŋu wɔa dɔ nyuie o. Esia ate ŋu ahe ʋumenugbagbeviɣidɔ, ŋutinuwo ƒe dɔmawɔmawɔ nyuie, kple kuxi bubuwo vɛ.

Ðe esia nye nusi dzɔ tso dzidzimewo mea?

Ẽ, woate ŋu atso dyskeratosis congenita tso dzidzime yi dzidzime. Ðevi ate ŋu anyi dome tso dzila ɖeka alo evea siaa gbɔ. Gake ate ŋu adzɔ hã be ɖevi naxɔe zi gbãtɔ, ne dɔléle sia medze ƒomea me kpɔ o gɔ̃ hã.

Domenyiŋusẽfianu kawoe kpɔa gome le dyskeratosis congenita me?

Domenyiŋusẽfianu siwo numekulawo do ƒome kple dyskeratosis congenita kple telomere biology disorders zi geɖe wu dometɔ aɖewoe nye esi:

``DKC1, TERC, TERT, TINF2, ACD, CTC1, DCLRE1B, NHP2, NOP10, NPM1, POT1, RPA1, STN1, TCAB1, PARN, RTEL1.`

Nukawoe nye kuxi siwo ate ŋu ado tso dyskeratosis congenita me?

Nɔnɔme sia ate ŋu ahe kuxi vovovowo vɛ, eye wo dometɔ aɖewoe nye:

• Ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie: Esiae nye kuxi si bɔ wu. Zi geɖe la, edzɔna hafi woxɔa ƒe 30.
• Aklã me lãkusi ƒe dɔléle
• Myelodysplastic syndrome (MDS) (kuxi si le ʋumenugbagbeviwo ƒe wɔwɔme le ƒumeŋuɖui me) .
• Acute myeloid leukemia (AML) (ʋumenugbagbeviɣidɔ ƒomevi aɖe) .
• Ta kple kɔ me kansa
• Ŋutilã me kansa
• Aklã ƒe fibrosis

Ƒe nenie wokpɔa dyskeratosis congenita le?

Zi geɖe la, wokpɔa dɔléle sia le ɖevime alo ƒewuiwo me, elabena ɣemaɣie dzesi gbãtɔwo dzena. Ke hã, ate ŋu adzɔ be ame aɖewo maɖe dzesiawo afia o vaseɖe esime wova tsi, eye ɖewohĩ womakpɔ dɔlélea le wo ŋu gɔ̃ hã o.

Aleke ɖɔktawo wɔa dea dzesi dɔléle siae?

Ðɔktawo wɔa nu siwo gbɔna tsɔ dea dzesi dɔléle si nye dyskeratosis congenita:

• Woabia nya wò tso viwòa ƒe dzesiwo ŋu.
• Wotoa ɖevia kple ƒomea ƒe atikewɔwɔ ŋutinya me.
• Lãmesẽdodokpɔ wɔwɔ.
• Woɖe gbe be woawɔ dodokpɔ tɔxɛwo.

Ðɔktawo dia dɔlélea ƒe dzesi siwo wonya (abe ŋutigbalẽ ƒe tɔtrɔ, ɖa ƒe tɔtrɔ, teƒe ɣiwo le nu me ene) eye emegbe wozãa dodokpɔ me tsonu tsɔ ɖoa ​​kpe edzi nenye be dyskeratosis congenita gbɔe dzesi mawo tso alo menyee o.

Dodokpɔwo hena Dyskeratosis Congenita (DKC) ƒe dɔléle .

Wò ɖɔkta ate ŋu aɖe gbe be woado viwòa kpɔ zi geɖe. Wo dometɔ aɖewo akpe ɖe ŋuwò tẽ le dɔlélea didi me, eye bubuwo ate ŋu aɖe dzesi bubu siwo ate ŋu akpɔ ŋusẽ ɖe viwòa ƒe lãmesẽ kple atikewɔwɔ ƒe ɖoɖoa dzi la afia.

Dodokpɔ vevi eve siwo woawɔ atsɔ anya dyskeratosis congenitae nye:

• Flow cytometry: Esia dzidzea viwò ƒe telomere ƒe didime. Dodokpɔa me tsonuawo naa telomere ƒe didime kple alafa memamã ɖeka. Alafa memamã sia ɖe alesi viwòa ƒe telomere ƒe didime sɔ kple ɖevi bubu siwo xɔ ƒemetɔwo ƒe telomere ƒe didime fia.
• Domenyiŋusẽfianu dodokpɔ: Esia léa ŋku ɖe domenyiŋusẽfianu ƒe tɔtrɔ siwo do ƒome kple dyskeratosis congenita ŋu.

Zi geɖe la, woɖea ʋu hena dodokpɔ siawo. Le go tɔxɛwo me la, woate ŋu axɔ lãmenugbagbevi bubuwo abe ŋutigbalẽ sue aɖe ene (ŋutilã ƒe lãmenugbagbeviwo ɖeɖe) hã.

Dodokpɔ bubuwo

Dodokpɔ bubu aɖewo siwo viwòa ate ŋu ahiã:

• Aɖudɔdada ƒe dodokpɔ
• Endoscopy (amemenuwo dodokpɔ to mɔ̃ si me fotoɖemɔ̃ le zazã me) .
• Ŋkudodokpɔ
• Ŋutilã dodokpɔ
• Ƒumeŋuɖui dodokpɔ
• Nɔnɔmetatawo dodokpɔ be woatsɔ ado ŋutilã ƒe akpa vovovowo kpɔ (abe ahɔhɔ̃, dzi, lãkusi, aklã, ƒuwo ene) .
• Aklã ƒe dɔwɔwɔ dodokpɔwo
• Dɔlélenutsiŋutete ƒe dɔwɔwɔ dodokpɔwo
• Ahɔhɔ̃mekawo ƒe susuŋutinunya dodokpɔ

Aleke wodaa dyskeratosis congenita?

Ðɔktawo nɔa te ɖe viwòa ƒe nuhiahiãwo dzi wɔa ɖoɖo ɖe atikewɔwɔ ŋu. Atikewɔwɔ ƒe ɖoɖo ɖeka aɖeke meli na ɖevi ɖesiaɖe o, elabena nɔnɔme sia gblẽa nu le ɖevi ɖesiaɖe ŋu le mɔ vovovowo nu.

Dɔdamɔnu siwo li dometɔ aɖewoe nye:

• Ʋudodo: Be woana ʋumenugbagbevi dzĩwo kple ʋumenugbagbevi dzĩwo nanɔ lãmesẽ me.
• Androgen-dɔdamɔnu: Ate ŋu akpe ɖe ame ŋu be ʋumenugbagbeviɣiwo nanɔ lãmesẽ me eye ate ŋu ana telomeres nadidi hena ɣeyiɣi aɖe.
• Lãmenugbagbeviwo dodo na ame: Woate ŋu ada ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie, MDS, alo ʋumenugbagbeviɣidɔ. Gake nɔnɔme aɖewo me koe wowɔa esia le, ne viɖe siwo dona tso eme sɔ gbɔ wu afɔku siwo le eme.

Viwòa ƒe atikewɔlawo ƒe ƒuƒoƒoa aƒo nu tso atikewɔmɔnu siwo li na wò ŋu na wò. Fifia ƒe atikewɔwɔ mate ŋu ada dyskeratosis congenita keŋkeŋ alo atrɔ telomere ƒe didime tegbee o. Ke boŋ atikewɔwɔwo ƒe taɖodzinue nye be woaɖu dɔlélea ƒe dzesi alo kuxi aɖewo koŋ dzi. Numekulawo le agbagba dzem vevie be yewoake ɖe atike yeye siwo ate ŋu akpe ɖe ɖeviwo kple ame tsitsi siwo ŋu dɔléle sia le ŋu.

Ðɔkta ka ƒomevie awɔ dɔ na vinyea?

Ðɔktawo ƒe ƒuƒoƒo aɖe si wɔa dɔ vovovowoe wɔa ɖoɖo ɖe atikewɔwɔ ŋu. Ðewohĩ "atikewɔƒe" alo atikewɔla gbãtɔ si wɔa dɔ kpli wò kplikplikpli eye wòwɔa ɖoɖo kple ɖɔkta bubuwo le viwòa si.

Viwòa dzikpɔkpɔ ƒe ƒuƒoƒoa ate ŋu anye ɖeviwo ƒe dɔléleŋutinunyala siwo katã, kpakple ɖeviwo ƒe dɔléle ŋuti nunyala bibiwo abe:

• Aɖudɔdalawo
• Ŋutilãŋutinunyalawo
• Dɔlékuiwutikeŋutinunyalawo
• Dɔgbo kple dɔgboŋutinunyalawo
• Ʋumenugbagbeviɣidɔŋutinunyalawo/kansaŋutinunyalawo
• Dɔlélenutsiŋutete ŋuti nunyalawo
• Ahɔhɔ̃ŋutinunyalawo
• Ŋkuŋutinunyalawo `(Ŋkudɔdalawo)`
• To, ŋɔti kple ŋɔti ŋuti nunyala bibiwo (Otolaryngologists) .
• Aklãŋutinunyalawo
• Domenyiŋusẽfianuŋutinunyalawo

Ne dyskeratosis congenita le vinye ŋu la, nukae wòle be makpɔ mɔ na?

Esesẽ be nàgblɔ nusi tututu viwòa ƒe etsɔme anye, alo nusi ava dzɔ le etsɔme. Dyskeratosis congenita ate ŋu axe mɔ na ɖevi ƒe agbenɔƒe. Gake esesẽ be míagblɔe to alesi gbegbe wòsɔ gbɔe dzi.

Kakaɖedzimanɔamesi geɖe le dyskeratosis congenita ŋu. Viwò ƒe atikewɔlawo ƒe ƒuƒoƒo ana nyatakaka geɖe wò alesi woate ŋui, eye woaɖe zi nenie viwòa ahiã dodokpɔ kple ɖɔkta gbɔ yiyi me.

Nukae nye nusi gbɔ ku tsona wu le dyskeratosis congenita me?

Nusi wua amesiwo ŋu dyskeratosis congenita le wue nye ƒumeŋuɖui ƒe dɔmawɔmawɔ nyuie , si hea dɔlékui sesẽwo vɛ eye ʋu dona le ʋumenugbagbevi siwo le lãmesẽ me ƒe anyimanɔmanɔ ta.

Nu bubu siwo hea ku vɛ zi geɖee nye aɖuɖɔtoedɔléle kple kansa.

Ðe woate ŋu axe mɔ ɖe dyskeratosis congenita nua?

Fifia la, womenya mɔ aɖeke si dzi woato axe mɔ ɖe domenyiŋusẽfianu ƒe nɔnɔme sia nu o. Ne dyskeratosis congenita le ŋuwò alo wò ƒomea me tɔ aɖe ŋu la, anyo be nàƒo nu kple domenyiŋusẽfianu ŋuti aɖaŋuɖola . Woate ŋu akpe ɖe ŋuwò nàse mɔnukpɔkpɔ siwo li be viwòwo anyi nɔnɔmea ƒe dome la gɔme.

Nukae mate ŋu awɔ atsɔ akpɔ vinye dzi?

Ne èkpɔe be dyskeratosis congenita le viwòa ŋu la, ate ŋu agbɔ eme. Gake nu geɖe li nàte ŋu awɔ atsɔ ado alɔ viwòa ƒe lãmesẽ eye wòaɖe kuxi siwo ate ŋu ado mo ɖa dzi akpɔtɔ.

Amesiwo ŋu dyskeratosis congenita le la ate ŋu axɔ kansa kple lãkusidɔ aɖewo. Nutoa me ƒe nɔnɔmewo abe ŋdɔkutsu dzatsɛ kple atamanono dzia afɔku sia ɖe edzi. Àte ŋu akpe ɖe viwòa ŋu ne ède dzi ƒo nɛ be:

• Zã ɣe ƒe keklẽŋusẽtike kple ametakpɔnu (abe kposɔwo kple awu siwo ƒe abɔwo didi ene) ne èle gota yim.
• Ðe wò ɣeyiɣi si nèzãna le ɣe ƒe keklẽ tẽ me dzi kpɔtɔ.
• Ƒo asa na atamanuwo katã keŋkeŋ.
• Ðe ahanono dzi kpɔtɔ alo dzudzɔ enono keŋkeŋ.

Viwòa ƒe atikewɔlawo ƒe ƒuƒoƒoa aɖo aɖaŋu le viwòa ƒe nuhiahiãwo nu. Woate ŋu akafu aɖaŋuɖoha alo kpekpeɖeŋunahawo hã. Le kpɔɖeŋu me, habɔbɔ geɖewo li siwo kpena ɖe amesiwo ŋu dɔléle siwo mebɔ o le ŋu. Team Telomere nye ƒuƒoƒo na amesiwo ŋu dyskeratosis congenita kple telomere biology dɔléle bubuwo le.

Ɣekaɣie wòle be madi atikewɔlawo ƒe kpekpeɖeŋu na vinyea?

Viwòa akpɔ ɖɔkta geɖe. Woƒe atikewɔlawo ƒe ƒuƒoƒoa agblɔ ɖɔkta siwo tututu nàkpɔ kple zi nenie nàkpɔ la na wò.

Ðɔkta yiyi siawo le vevie ŋutɔ. Woɖea mɔ na ɖɔktawo be woalé ŋku ɖe viwòa ƒe nɔnɔme ŋu eye woatrɔ asi le atikewɔwɔ ŋu ne ehiã. Ðewohĩ dyskeratosis congenita ƒe kuxi aɖewo madze le aƒeme ɣesiaɣi o. Dodokpɔwo me koe woate ŋu ade dzesi nuwo abe ƒu ƒe kpekpeme dzi ɖeɖe kpɔtɔ kple kansa ƒe dzesi gbãtɔwo ene.

Ðɔktawo ate ŋu afia alesi nàwɔ ameɖokuidodokpɔ le aƒeme na nusiwo le abe ŋutigbalẽ me kansa kple nu me kansa ene hã wò. Esiawo menye nusiwo woatsɔ aɖo ɖɔkta gbɔ yiyi teƒe o. Gake wonye mɔ vevi aɖe si dzi nàto ade dzesi dzesi aɖewo kaba eye nàna woawɔ atike na viwò kaba.

Nya kawoe wòle be mabia vinye ƒe atikewɔlawo ƒe ƒuƒoƒoa?

Ne wokpɔe be dyskeratosis congenita le ŋuwò vɔ la, biabia siawo ate ŋu akpe ɖe ŋuwò nàsrɔ̃ nu geɖe:

• Nukawoe nye vinyea ƒe dzesiwo?
• Nukawoe nye kuxi siwo ate ŋu ado tso eme?
• Atikewɔwɔ kawoe nèkafu?
• Viɖe kple afɔku kawoe le atikewɔwɔ siawo me?
• Àte ŋu akafu kpekpeɖeŋunaha alo dɔwɔnu bubu aɖe?
• Aleke maɖe nɔnɔme sia me na vinyea?
• Ðe wokafu domenyiŋusẽfianu dodokpɔ na nye alo ƒomea me tɔ bubuwoa?

Anyo be nàbia nya siawo ɖevi tsitsiwo kple ɖevi suewo:

• Aleke mate ŋu akpe ɖe vinyea ŋu wòatsɔ eya ŋutɔ ƒe lãmesẽnyawo gbɔ kpɔkpɔ ƒe agbanɔamedzi le mɔ si sɔ ɖe eƒe ƒexɔxɔ nu?
• Aleke wòle be míadzra ɖo be míaɖe vinyea tso ɖeviwo ƒe dɔdalawo gbɔ ayi ame tsitsiwo ƒe ɖɔktawo gbɔ eye ɣekaɣie wòle be míadzra ɖo?

Na míasrɔ̃ nu geɖe tso nusiwo telomerewo nye ŋu vie.

Enyo, míeƒo nu tso telomere ŋu vie do ŋgɔ. Esiawoe nye DNA ƒe ɖoɖo siwo gbugbɔna le viwòa ƒe domenyiŋusẽfianu ɖesiaɖe ƒe nuwuwu. Viwò ƒe domenyiŋusẽfianu ɖesiaɖe le telomere eve siawo dome. Ðɔktawo tsɔa wo sɔna kple aŋekotoku siwo le afɔkpa ƒe ka ƒe nugbɔ. Abe ale si ko kposɔ mawo kpɔa afɔkpa ƒe kawo ta be woagavuvu o ene la, nenema ke telomere hã kpɔa viwòa ƒe domenyiŋusẽfianu ta.

Dzɔdzɔmenugbagbeviwo le lãmenugbagbevi ɖesiaɖe kloe me le ɖevi ƒe ŋutilã me. Lãmenugbagbevi mawo le wo ɖokuiwo gbugbɔm atraɖii. Emae nana ɖevi ƒe ŋutinuwo kple lãkusiwo wɔa dɔ nyuie.

Ɣesiaɣi si lãmenugbagbevi aɖe ma la, ewɔa eƒe domenyiŋusẽfianu ƒe kɔpiwo. Ɣesiaɣi si esia dzɔ la, telomere siwo le domenyiŋusẽfianu aɖe dzi la nɔa kpuie vie. Esia sɔ. Enzyme aɖe si woyɔna be telomerase gena ɖe eme eye wòdzraa telomere mawo ɖo wòdidi nyuie ale be lãmenugbagbevi la nate ŋu ayi edzi anɔ mamam. Ne telomereawo va le kpuie akpa la, lãmenugbagbevi la dzudzɔa mama.

Le dyskeratosis congenita me la, domenyiŋusẽfianu ƒe tɔtrɔ nana telomerewo nɔa kpuie le mɔ si mesɔ o nu. Esia ate ŋu adzɔ le mɔ vovovowo nu. Le kpɔɖeŋu me, domenyiŋusẽfianu ƒe tɔtrɔ ate ŋu ado kplamatse telomerase ƒe wɔwɔ. Alo telomerase ate ŋu mate ŋu aɖo telomereawo gbɔ o. Eyata, viwòa ƒe telomerewo va nɔa kpuie eye womegatsina ake o.

Ne telomere siwo le lãmenugbagbevi aɖe me va le kpuie akpa la, lãmenugbagbevi ma dzudzɔa eƒe kɔpiwo wɔwɔ. Esi lãmenugbagbevi geɖe wu dzudzɔ mama la, ŋutinu kple lãkusi vovovo siwo le ɖevia ƒe ŋutilã me la meganɔa nu siwo hiã be woawɔ dɔ nyuie la o. Aleae telomere kpuiwo hea dyskeratosis congenita ƒe dzesiwo kple kuxiwo vɛ.

Ðe esia sɔ kple Zinsser-Cole-Engman ƒe dɔlélea?

Ẽ, Zinser-Cole-Engman ƒe dɔléle kple dyskeratosis congenita nye ŋkɔ eve na nɔnɔme ɖeka ma ke. Numekula siwo ke ɖe dɔlélea ŋu le ƒe 1906 me tsɔ ŋkɔ nɛ be Zinser-Cole-Engman ƒe dɔléle. Gake egbea la, ame akpa gãtɔ yɔnɛ be dyskeratosis congenita.

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

Sidzedze nye ŋusẽ. Gake ɣeaɖewoɣi la, ne sidzedze geɖe le xexeame gɔ̃ hã la, àte ŋu ase le ɖokuiwò me kokoko be yemate ŋu awɔ naneke o. Ne èva nya be dyskeratosis congenita le viwòa ŋu la, nyabiase geɖe nɔa asiwò. Ateŋu anɔ nenema nenye be wò ŋutɔ wò hã nèle nɔnɔmea me - elabena domenyiŋusẽfianu ƒe nɔnɔme siwo wotsɔna toa ƒomewo me mekpɔa ŋusẽ ɖe amesiame dzi le mɔ ɖeka nu o.

Viwòa ƒe ɖɔktawo ate ŋu akpe ɖe ŋuwò nàse viwòa ƒe nɔnɔme kple nuhiahiãwo gɔme. Woawoe nye nyatakakatsoƒe nyuitɔ kekeake tso alesi nɔnɔmea kpɔa ŋusẽ ɖe viwò ƒe ŋutilã dzii ŋu. Azɔ hã, ɖo ŋku edzi be ame gbogbo aɖewo li siwo ŋu dɔléle siwo mebɔ o le siwo le klalo be yewoado alɔ wò. Woate ŋu aɖo aɖaŋu na wò tso woƒe nuteƒekpɔkpɔwo me. Wodea asixɔxɔ nya si nàgblɔ hã ŋu. Ne ènya be menye wò ɖeka koe o la, ate ŋu akpe ɖe ŋuwò nàyi ŋgɔ.

` Dyskeratosis congenita, domenyiŋusẽfianu ƒe dɔlélewo, telomeres, ƒumeŋuɖui, ŋutigbalẽ ƒe dzesiwo, ɖa ƒe tɔtrɔ, kansa ƒe afɔku