Nukae Nye Niemann-Pick Dɔléle? Mina míase egɔme bɔbɔe.

Ðe viwò sue ƒe ƒodo dze abe ɖe wòfu vie enea? Alo ɖe nèsena le ɖokuiwò me be viwòa mele tsitsim le eƒe ƒexɔxɔ nu oa? Ɣeaɖewoɣi la, nusiawo ate ŋu asɔ. Gake ƒã ŋutɔ la, domenyiŋusẽfianu ƒe dɔléle aɖe si mebɔ o si ŋu míese nu tsoe haɖe o gbɔ ate ŋu atso wo gbɔ. Egbea, míele nu ƒom tso Niemann-Pick Dɔléle, si nye dɔléle mawo siwo mebɔ o dometɔ ɖeka tɔ ŋu. Mègavɔ̃ ne èse ŋkɔ sia o. Na míaƒo nu tso eŋu le mɔ bɔbɔe aɖe si gɔme nàte ŋu ase nu.

Nukae nye Niemann-Pick ƒe dɔlélea?

Kpuie ko la, Niemann-Pick ƒe dɔlélea nye domenyiŋusẽfianu si dona tso ami alo ami siwo le míaƒe ŋutilã ƒe lãmenugbagbeviwo me ƒe ƒuƒoƒo madzemadzee me.

Fifia ɖewohĩ ànɔ ɖokuiwò biam be, "Nukae nye ami siawo? Nukatae woƒoa ƒu?" Mina míaɖe eme alea.

Bu lãmenugbagbevi ɖesiaɖe si le míaƒe ŋutilã me be enye dɔwɔƒe sue aɖe. Dɔwɔƒe sia hiã ŋusẽ hafi wòate ŋu awɔ dɔ. Ŋusẽ ma tsoa nuɖuɖu siwo míeɖuna me. Womãa ami (ami) kple protein siwo le nuɖuɖu siawo me ɖe akpa suesuesuewo me le míaƒe lãmenugbagbeviwo me eye wozãnɛ tsɔ wɔa ŋusẽ. Tsɔ kpe ɖe eŋu la, ami siawo (le kpɔɖeŋu me, ʋumemi kple ami) hã hiã na dɔ vevi geɖewo wɔwɔ, abe míaƒe lãmenugbagbeviwo ƒe gliwo tutu kple lãmetsiŋusẽwo wɔwɔ ene.

Zi geɖe la, le ame si le lãmesẽ me ƒe ŋutilã me la, ne ami siawo vɔ, alo ne wosɔ gbɔ akpa la, enzyme tɔxɛ aɖewo nɔa wo me be wogbãa wo heɖea wo ɖa le ŋutilãa me. Abe alesi ko ɖoɖo aɖe si ɖea gbeɖuɖɔ ɖa le dɔwɔƒe ne ewu dɔwɔwɔ nu ene.

Gake le amesi ŋu Niemann-Pick dɔlélea le gome la, domenyiŋusẽfianu ƒe gbɔdzɔgbɔdzɔ aɖe le enzyme alo protein siwo gblẽa ami siwo ŋu meƒo nu tsoe la wɔwɔ me. Esia wɔnɛ be ami siwo womate ŋu azã o, siwo mehiã o la dzea ƒoƒo ƒu ɖe lãmenugbagbeviawo me. Ele abe gbeɖuɖɔ gbogbo aɖe si le dɔwɔƒe aɖe si me gbeɖuɖɔwo tsɔtsɔ ƒu gbe ƒe mɔ̃ si gblẽ le ene.

To mɔ sia dzi la, menye teƒe ɖeka koe amiwo ƒoa ƒu ɖo o.

• Hɔhɔ̃
• Aklã
• Aɖuɖɔtoe
• Dzitodzito
• Ƒumeŋuɖui

Esiawo ƒoa ƒu ɖe ŋutinu veviwo abe dzi ene ƒe lãmenugbagbeviwo me. Le ɣeyiɣi aɖe megbe la, ami siawo ƒoa ƒu eye woxea mɔ na ŋutinu mawo be womegawɔa dɔ nyuie o. Ɣemaɣie dzesiawo dzea egɔme dzena.

Nukawoe nye dɔléle sia ƒe dzesi veviwo?

Dzesiawo ate ŋu ato vovo le ŋutinu si me ami siawo le nu. Dzesiawo hã toa vovo le dɔlélea ƒomevi nu. Gake dzesi geɖe li siwo bɔ.

Ahɔhɔ̃mekawo ƒe Dzesiwo

Dzesi siawo dzena ne amiwo le ahɔhɔ̃mekawo me.

• Ataxia: Esia nye nɔnɔme si me ŋutilã ƒe lãmekawo mete ŋu ɖua ʋuʋu si woɖo koŋ wɔ, abe azɔlizɔzɔ alo asiɖoɖo nane gbɔ ene dzi o. Ŋutilãa senɛ le eɖokui me be yemeli ke o eye yemeli ke o.
• Lãmetsiwo ƒe gbɔdzɔgbɔdzɔ:Ŋutilãa senɛ le eɖokui me be agbe mele ye si o, eye lãmekawo ƒe dɔwɔwɔ dzi ɖena kpɔtɔna.
• Spasticity: Ɣeaɖewoɣi la, lãmekawo sesẽna eye woate ŋu aʋuʋu. Ʋuʋu va sesẽna ŋutɔ.
• Nuƒoƒo sesẽ: Nya siwo wogblɔna le mɔ gbegblẽ nu, mete ŋu ƒoa nu nyuie o.
• Ahɔhɔ̃a ƒe dɔwɔwɔ dzi ɖeɖe kpɔtɔ vivivi: Nuwo abe ŋkuɖoɖonudzi kple nusɔsrɔ̃ ƒe ŋutete ate ŋu aɖiɖi le ɣeyiɣi aɖe megbe.

Dzesi siwo do ƒome kple ŋutilã ƒe akpa bubuwo

• Aklã kple dɔgbo ƒe vuvu: Zi geɖe la, esia nyea dzesi gbãtɔ siwo wokpɔna la dometɔ ɖeka. Lãmetsi eve siawo lolona le ami siwo le wo me ta. Esia wɔnɛ be ɖevia ƒe ƒodo dona ɖe ŋgɔ eye wòdzena abe ɖe wòvuvu ene.
• Nu mimi kple ahanono sesẽ: Nɔnɔme sia gblẽa nu le ɖevi suewo koŋ ŋu.
• Tɔtrɔ siwo vaa ŋku ƒe ʋuʋu me: Ate ŋu asesẽ be woakpɔ dzi kple anyi.
• Ŋku ƒe ŋkume ƒe tɔtrɔ: Ŋku ƒe ŋkume ate ŋu azu alilikpo.
• Cherry-red spot: Esia nye dzesi aɖe koŋ ŋutɔ. Ne ɖɔkta do ŋkua kpɔ la, woate ŋu akpɔ teƒe dzĩ aɖe si le abe cherry ene le ŋkua ƒe titina. Esia medzɔna ɖe amesiame dzi o, gake dɔnɔ aɖewo ya dzɔna.

Dɔléle sia ƒomevi vevi etɔ̃e li.

Niemann-Pick ƒe dɔlélea katã menye nu ɖeka o. Wole ƒomevi vevi etɔ̃ (eye geɖe wu le hatsotso aɖewo me). Nusiwo gbɔ dɔlélea tsona, eƒe dzesiwo, kple alesi wòzɔnae to vovo na ƒomevi ɖesiaɖe. Mina míazã kplɔ̃ aɖe atsɔ akpe ɖe mía ŋu míase vovototoawo gɔme.

Nuŋlɔɖi sue aɖe tso D ƒomevi ŋu

Tsã la, woyɔa dɔnɔ siwo ŋu ƒomevi C le, siwo dzɔ tso tɔgbui ɖeka si bɔ le Canada ƒe Nova Scotia nutoa me, be ƒomevi D. Gake míenya fifia be enye nɔnɔme si hã le ƒomevi C me, eye wòtsoa gbɔdzɔgbɔdzɔ aɖe koŋ le NPC1 domenyiŋusẽfianu me.

Ðe atike aɖe li na esia?

Nya sia ƒe ŋuɖoɖo nyanya le vevie ŋutɔ na wò kple amesiame. Ne míagblɔe tututu la, vaseɖe fifia la, atike aɖeke meli na Niemann-Pick ƒe dɔlélea o.

Eyata nukae ɖɔktawo wɔna?

Atikewɔwɔ siwo li fifia nye atikewɔwɔ si kpena ɖe ame ŋu . Eyae nye be, togbɔ be womate ŋu ada dɔlélea o hã la, woɖua dɔlélea ƒe dzesiwo dzi, wonaa akɔfafa geɖe dɔnɔa alesi wòate ŋui, eye wokpena ɖe eŋu be agbenɔnɔ nanɔ bɔbɔe.

• Takpɔkpɔ tso dɔlékuiwo me: Dɔnɔ siawo, vevietɔ ɖeviwo, te ŋu xɔa dɔlékuiwo enuenu. Eyata ele vevie ŋutɔ be woakpɔ wo ta tso dɔlékuiwo abe aklãdɔ ene me.
• Nuɖuɖu: Ðewohĩ ahiã be woana nuɖuɖu ɖevi siwo nu mimi sesẽna to mɔ̃ si wotsɔna naa nuɖuɖui me.
• Lãmesẽfefe: Kamedede kple kamedede ƒe atikewɔwɔ ate ŋu akpe ɖe ame ŋu wòaɖu lãmekawo ƒe sesẽ (spasticity) dzi eye wòana ƒunukpeƒewo nawɔ dɔ.
• Yagbɔgbɔ ƒe kuxiwo dada: Ne dɔlélea gblẽ nu le lãkusiwo ŋu, abe alesi wòle le dɔnɔ ƒomevi B gome ene la, ate ŋu ahiã be woatsɔ ɔksidzin akpe ɖe eŋu.

Dodokpɔ ƒe atikewɔwɔwo

• Ƒumeŋuɖui dodo na ame: Wote esia kpɔ le dɔnɔ ʋɛ aɖewo siwo ŋu ƒomevi B le ŋu, gake menye atike si wozãna ɖaa haɖe o.
• Enzyme ɖɔliɖɔli ƒe atikewɔwɔ kple domenyiŋusẽfianu ƒe dɔdamɔnu: Dzɔdzɔmeŋutinunyalawo le mɔ kpɔm be atikewɔwɔ siawo aɖe vi aɖe na dɔnɔ ƒomevi B le etsɔme, gake esiawo gakpɔtɔ le numekuku ƒe afɔɖeɖea me.

Nya kae nàte ŋu agblɔ tso etsɔme ŋu? (Nyagblɔɖi) .

Esia nye nyati si ŋu woate ŋu aƒo nu tsoe vevie ŋutɔ. Dɔnɔ ƒe etsɔme, alo nusi wòagblɔ ɖi, nɔ te ɖe dɔléle ƒomevi si wòaxɔ dzi bliboe.

• Ƒomevi A: Abe alesi míegblɔe va yi ene la, esiae nye ƒomevi si nu sẽ wu. Zi geɖe la, vidzĩ siwo ŋu dɔléle sia le kuna le woƒe vidzĩme, hafi woxɔa ƒe 2-3, le dɔlékuiwo alo lãmekawo ƒe dɔmawɔmawɔ nyuie ta.
• Ƒomevi B: Dɔnɔ siawo ate ŋu anɔ agbe didi vie. Ame aɖewo nɔa agbe va ɖoa tsitsime. Gake le lãkusi ƒe gbegblẽ ta la, ate ŋu ahiã be atikewɔlawo nakpɔ wo dzi le woƒe agbemeŋkekewo katã me eye ɣeaɖewoɣi la, woakpe ɖe wo ŋu na ɔksidzin.
• Ƒomevi C:Esesẽ ŋutɔ be woagblɔ dɔléle sia ƒe etsɔme ɖi, elabena ƒe si dɔlélea ƒe dzesiwo dzena kple alesi dɔlélea azɔe la toa vovo ŋutɔ tso ame ɖeka gbɔ yi bubu me. Ðevi aɖewo kuna le woƒe ɖevime, gake amesiwo ƒe dzesiwo dzea egɔme megbe eye woƒe dɔlélea mesẽna boo o ate ŋu anɔ agbe vaseɖe tsitsime.