Nukatae wò ŋutilã mate ŋu axɔ ami kple vitaminwo o? (Abetalipoproteinemia ƒe ʋumenugbagbeviɣidɔ) .

Èbu eŋu kpɔ be kuxi kawo ate ŋu ado mo ɖa ne ŋutilãa mete ŋu xɔa nunyiame siwo wòhiã tso nuɖuɖu siwo míeɖuna, vevietɔ ami kple vitamin aɖewo me oa? Egbea míele nu ƒom tso domenyiŋusẽfianu ƒe nɔnɔme mawo dometɔ ɖeka si mebɔ o gake wòle vevie ŋutɔ ŋu. Nusi dzɔnae nye be míaƒe ŋutilã mete ŋu xɔa ami kple vitamin siwo me ami le nyuie o. Mina míalé ŋku ɖe nusi nɔnɔme sia nye, nusita wòdzɔna, kple nusi woate ŋu awɔ tso eŋu ŋu.

Nukae nye Abetalipoproteinemia?

Kpuie ko la, abetalipoproteinemia nye domenyiŋusẽfianu ƒe dɔléle si mebɔ kura o. Enye nɔnɔme si me wò ŋutilã mete ŋu xɔa ami (ami) kple vitamin aɖewo siwo le nuɖuɖu si nèɖuna me nyuie o. Esia le alea elabena wò ŋutilã mete ŋu wɔa molecule tɔxɛ siwo woyɔna be lipoproteins siwo tsɔa ami, ʋumemi, kple vitamin siwo me ami le (abe vitamin A, D, E, kple K ene) yia wò ŋutilã katã me o.

Bu eŋu ale, `lipoproteins` siawo le abe ʋu siwo tsɔa nunyiamewo yia míaƒe ŋutilã me ene. Eyata ne ʋu siawo megali o la, ami kple vitaminwo meyia afisi wòhiã be woayi le ŋutilãa me o. Esia wɔnɛ be ami kple vitamin, vevietɔ vitamin A, D, E, kple K.

Nuka tututue le dzɔdzɔm le nɔnɔme sia me?

Bu eŋu ale: ne èle nuɖuɖu ɖum la, ehiã be ami kple vitamin siwo me ami le siwo le eme la naxɔ tso dɔgboa me ayi ʋua me. Ema ko hafi woate ŋu axɔ wo ɖe ʋua me ahatsɔ wo ayi ŋutilã bliboa me kple lãmenugbagbeviwo me. Lipoprotein siwo míeyɔ va yi ye nana esia nɔa bɔbɔe. Le amesi ŋu abetalipoproteinemia le gome la, womewɔa lipoprotein siawo nyuie o, eyata mɔ aɖeke meli si dzi ami kple vitaminawo ato ato dɔgboa me o.

Kuxi vevi siwo esia hena vɛ

Ne `lipoproteins` siawo bu la, kuxi vevi geɖewo ateŋu ado mo ɖa:

• Ami ƒe dɔmawɔmawɔ nyuie: Esia ate ŋu ahe nɔnɔmewo abe aɖuɖɔtoetetedɔ ene vɛ, si ate ŋu ana ame naʋuʋu, ame ƒe lolo dzi naɖe akpɔtɔ, eye nunyuimakpɔɖui.
• Vitamin ƒe anyimanɔmanɔ: Esiawo ate ŋu ahe kuxi vovovowo vɛ. Woate ŋu anye ŋku ƒe kuxiwo, lãmekawo ƒe dɔmawɔmawɔ nyuie, kple lãmekawo ƒe gbɔdzɔgbɔdzɔ.
• Acanthocytosis: Nya sia nye nya si gɔme sese sesẽ vie, alo? Kpuie ko la, wò ʋumenugbagbevi dzĩwo ƒe nɔnɔme to vovo, abe ɣletivi si ŋu ŋù le ene, alo nane si le abe ema ene. Woyɔa esia be ``Acanthocytosis.'' Esia ateŋu ahe ʋusɔgbɔdɔ vɛ. Esia fia be ʋumenugbagbevi dzĩ siwo le lãmesẽ me mesɔ gbɔ le ŋutilãa me o.

Abetalipoproteinemia nye dɔléle sesẽ aɖe si ate ŋu ahe lãmesẽkuxi gãwo vɛ. Nu siaFifia la, atike aɖeke meli si woatsɔ adae o. Gake ne woda dɔ nyuie la, woate ŋu aɖu dzesiawo dzi eye woate ŋu axe mɔ ɖe kuxiwo nu. Zi geɖe la, atikewɔwɔa lɔ nuɖuɖu si me ami mesɔ gbɔ ɖo o, vitamin kpeɖeŋutɔ, kple atikewɔmɔnu vovovo siwo ku ɖe dzesi aɖewo koŋ ŋu ɖe eme.

Aleke dzesiawo le?

Zi geɖe la, `Abetalipoproteinemia` ƒe dzesiwo dzea egɔme tso vidzĩme. Le no nana megbe la, viwòa ate ŋu aɖu aɖuɖɔ, aɖuɖɔtoe, kple aɖuɖɔ si me ami le, si ʋẽna lilili (steatorrhea) (míeyɔa esia be "steatorrhea," si fia be viwòa ƒe aɖuɖɔ nyea ʋuʋudedi, ami le eme, ɣeaɖewoɣi la, tsia tsia dzi, eye wòʋẽna vie). Le ɣeyiɣi aɖe megbe la, àte ŋu ade dzesii be viwòa mele lolom alo le tsitsim abe alesi nèkpɔ mɔe ene o. Míeyɔa dzidziɖedzi sia be dzidziɖedzi .

Le ame tsitsiwo gome la, abetalipoproteinemia, si nye vitamin ƒe anyimanɔmanɔ, gblẽa nu le ŋutilã ƒe dɔwɔwɔ vovovowo ŋu. Dzesi gbãtɔ ate ŋu anye be lãmeka aɖewo ƒe dɔwɔwɔ bu. Dzesi bubuwo ate ŋu anye:

• Lãmetsiwo ƒe ʋuʋu, gbɔdzɔgbɔdzɔ, kple vevesese.
• Ðeɖiteameŋu, gbɔgbɔtsixetsixe, alo dzi ƒe tsotso kabakaba.
• Wò akɔta ƒe akpa si le ƒoƒom ƒe dzidziɖedzi (lordosis) alo wò akɔta ƒe gogloƒe ƒe dzidziɖedzi (kyphoscoliosis). Esiawo nye tɔtrɔ siwo vaa wò akɔta ƒe nɔnɔme me.
• Alesi lãmekawo wɔa dɔe ƒe ɖoɖowɔwɔ ɖe ɖoɖo nu sesẽ. Esia ate ŋu ana ame naʋuʋu le mɔ wɔnuku aɖe nu, si dzi womate ŋu aɖu o ne ele zɔzɔm alo le dɔwo wɔm. Woyɔa esia be ataxia .
• Nuƒoƒo si me mekɔ o le esi wòsesẽna be woaɖu aɖe alo gbe dzi. Woyɔa nɔnɔme sia be dysarthria .
• Nukpɔkpɔ ƒe kuxiwo: Nuwo abe strabismus, ŋku ƒe ʋuʋu si dzi womeɖu o (nystagmus), alo retinitis pigmentosa, si nye dɔléle si nana be nukpɔkpɔ dzi ɖena kpɔtɔna le zã me.
• Ʋusɔgbɔdɔ nye nɔnɔme si me ʋumenugbagbevi dzĩ siwo le lãmesẽ me ƒe agbɔsɔsɔ dzi ɖena kpɔtɔna le ŋutilãa me, si wɔnɛ be ɖeɖi tea ame ŋu eye wògbɔdzɔna.
• Ŋutilã ƒe ɣie alo ŋku ƒe ɣie (jaundice).
• Ʋuʋudedi, vuvu.
• Ahɔhɔ̃ ƒe gbegblẽ le ɣeyiɣi aɖe megbe.

Aleke dɔléle sia va doa mo ɖae?

Abetalipoproteinemia tsoa MTTP domenyiŋusẽfianu ƒe tɔtrɔ gbɔ. MTTP domenyiŋusẽfianu gblɔna na míaƒe ŋutilã be wòawɔ protein aɖe si woyɔna be microsomal triglyceride transfer protein (MTP). MTP protein sia le vevie ŋutɔ na lipoprotein siwo míeyɔ va yi la wɔwɔ le míaƒe aklã kple dɔgbowo me.

Domenyiŋusẽfianu si gbɔ wòtso

Ðewohĩ àɖo ŋku edzi be lipoproteins hiã be woatsɔ ami, ʋumemi, kple vitamin siwo me ami le tso dɔgboa me ayi ʋukawo me. Emegbe ʋua tsɔa lipoprotein siawo yia ŋutilã bliboa me ale be míaƒe lãkusiwo nate ŋu axɔ nunyiame vevi siawo.

Eyata, ne tɔtrɔwo va le `MTTP` domenyiŋusẽfianu me la, ŋutilãa mete ŋu wɔa `MTP` protein o. Ne `MTP` protein mesɔ gbɔ o la, ŋutilãa mete ŋu tsɔa ami toa dɔgbo ƒe lãmenugbagbeviwo me o. Esia kpɔa ŋusẽ ɖe `lipoproteins` ƒe wɔwɔ dzi zi evelia, si xea mɔ na nunyiamewo be woagatsɔ wo ayi teƒe bubu nyuie ahaxɔ wo o. Nunyiame ƒe veve siawo tae `Abetalipoproteinemia` ƒe dzesiwo dzena.

Alesi wòtso dzidzime yi dzidzime

Abetalipoproteinemia toa ƒomewo me le autosomal recessive ƒe ɖoɖo nu. Autosomal recessive fia be domenyiŋusẽfianu si wogbugbɔ trɔ la ƒe kɔpi le dzila eveawo siaa si, eye ɖevia nyia dome. Gake Abetalipoproteinemia ƒe dzesi aɖeke mele dzila mawo ŋu o. Esia fia be dɔlélea tsɔlawo koe wonye. Hafi ɖevi nate ŋu axɔ dɔlélea la, ele be dzila evea siaa nanyi domenyiŋusẽfianu si gblẽ la dome.

Aleke wowɔa dɔlélea ƒe dzesi?

Wò ɖɔkta akpɔ abetalipoproteinemia to ŋutilãmedɔdada me. Abia nya wò tso wò dzesiwo kple atikewɔwɔ ŋutinya ŋu. Woaɖe gbe hã be woado ʋu vovovowo kpɔ be woakpɔ dɔlélea ƒe dzesiwo. Dodokpɔ siawo alé ŋku ɖe ami ƒe agbɔsɔsɔ si le wò ʋumenugbagbevi dzĩ me (míeyɔa esia be ami ƒe agbɔsɔsɔ) kple lipoproteins ŋu. Woalé ŋku ɖe wò ʋumenugbagbevi dzĩwo ƒe nɔnɔme kple wɔwɔme hã ŋu (be woakpɔe ɖa be dɔléle aɖe si woyɔna be acanthocytosis le ŋuwò hã), aklã ƒe dɔwɔwɔ, kple vitamin siwo me ami le (vitamin A, D, E, kple K) ƒe agbɔsɔsɔ hã.

Dodokpɔ bubu siwo ate ŋu ahiãe nye:

• Ŋkudodokpɔ aɖe.
• Ahɔhɔ̃mekawo ƒe dodokpɔ.
• Endoscopy (dodokpɔ si léa ŋku ɖe dɔgboa me).
• Aklãa ƒe ultrasound scan.
• Aɖuɖɔ dodokpɔ, vevietɔ be woakpɔ ami agbɔsɔsɔme si wotsɔ to aɖuɖɔa me.

Tsɔ kpe ɖe eŋu la, wò ɖɔkta ate ŋu aɖo aɖaŋu na wò be nàdo domenyiŋusẽfianu kpɔ be MTTP domenyiŋusẽfianu ƒe tɔtrɔ aɖe le ŋuwò hã.

Nukawoe nye atikewɔmɔnuawo?

Abetalipoproteinemia ƒe atikewɔwɔ nɔa te ɖe wò dzesi tɔxɛwo dzi. Zi geɖe la, ahiã be nàwɔ dɔ kple lãmesẽdɔwɔla vovovowo ƒe ƒuƒoƒo aɖe. Esiawo ate ŋu anye:

• Ahɔhɔ̃ŋutinunyalawo.
• Ðɔkta siwo bi ɖe aklãdɔlélewo me (aklãŋutinunyalawo).
• Ŋkuŋutinunyalawo (ŋkudɔdalawo).
• Eŋutinunyala bibi siwo srɔ̃a nu tso amiwo ŋu (amiŋutinunyalawo).
• Dzidɔŋutinunyalawo.
• Ƒuŋutinunyalawo.
• Dɔgboŋutinunyalawo nye nuɖuɖumeŋusẽ ŋuti nunyala bibiwo.
• Nuɖuɖuŋutinunyalawo.

Vidzĩwo ƒe atikewɔwɔ

Le vidzĩwo gome la, ɖɔktaa akpɔ egbɔ be woatsi ahatsi nyuie.Woate ŋu akafu nuɖuɖu si me medium-chain triglycerides (MCTs) kple vitamin tɔxɛwo sɔ gbɔ ɖo. Ami siawo ƒomevi, siwo woyɔna be MCTs, mele abe ami ƒomevi bubuwo ene o, eye wole bɔbɔe na ŋutilãa be wòaxɔ wo.

Atikewɔwɔ na ame tsitsiwo

Le ame tsitsiwo gome la, wokafui be woawɔ nuɖuɖu ŋuti ɖoɖo si woatsɔ ada dɔe si me nuɖuɖu siwo me ami ʋeʋĩ siwo le kɔsɔkɔsɔ didi me mesɔ gbɔ ɖo o hã le. Ele be esia nakpe ɖe ŋuwò nàɖe wò dɔgbo ƒe dzesiwo (dɔgbo ƒe dɔmawɔmawɔ nyuie) dzi akpɔtɔ. Le kpɔɖeŋu me:

• Koklolã, koklozi, kple lã bubu siwo me ami mele o.
• Tɔmelã.
• Gbe ƒuƒu, peas, lãgbalẽ.
• Notsi si me ami mele o alo esi me ami mesɔ gbɔ ɖo o, cottage cheese, yogurt.
• Atikutsetsewo kple amagbewo.
• Abolo si wotsɔ nuku blibo wɔe, pasta, nuku, kple bli.

Azɔ hã, wò ɖɔkta ate ŋu aɖo aɖaŋu na wò be nàno vitamin siwo me ami le (abe vitamin A, E, D, kple K ene) agbɔsɔsɔme geɖe . Esia ate ŋu akpe ɖe ŋuwò nàxe mɔ ɖe wò dzesi geɖe nu alo ana woanyo ɖe edzi. Le kpɔɖeŋu me, vitamin E kple vitamin A zazã ate ŋu axe mɔ ɖe lãmekawo kple ŋkume ƒe kuxiwo nu alo ahe wo ɖe megbe. Vitamin D kpeɖeŋutɔ nono ate ŋu akpe ɖe ŋuwò nàɖe dzesi aɖewo siwo do ƒome kple ƒu ƒe tsitsi dzi akpɔtɔ.

Lãmetsiŋusẽ ƒe kuxiwo dada

Lãmetsiŋusẽ ƒe kuxiwo ate ŋu abia be woawɔ atike na ame abe kamedede, nuƒoƒo ƒe atikewɔwɔ, alo dɔwɔwɔ ƒe atikewɔwɔ ene.

Mɔnukpɔkpɔ kawoe li be woahaya?

Mɔkpɔkpɔ (nyagblɔɖi) be woahaya tso abetalipoproteinemia me nɔ te ɖe nu geɖe dzi, siwo dometɔ aɖewoe nye:

• Ƒe si woxɔ le dɔlélea didi me.
• Ɣeyiɣi si woatsɔ adze atikewɔwɔ gɔme.
• `MTTP` domenyiŋusẽfianu ƒe tɔtrɔ ƒomevi.

Ne wokpɔ dɔlélea kaba eye wozã vitamin kpeɖeŋutɔ ate ŋu axe mɔ ɖe kuxiwo nu, ahe wo ɖe megbe, alo aɖe wo dzi akpɔtɔ. Ate ŋu ana ame ƒe agbenɔƒe nanyo ɖe edzi hã. Ame aɖewo ate ŋu anɔ agbe axɔ ƒe 70. Ne womewɔ atike na dɔlélea o la, ate ŋu ana woaku le woƒe ƒe 20-awo me le nunyiame ƒe veve ta.

Ðe woate ŋu axe mɔ ɖe esia nua?

Esi abetalipoproteinemia nye domenyiŋusẽfianu ƒe dɔléle ta la, màte ŋu axe mɔ ɖe enu o. Ne èfɔ fu alo nèle ɖoɖo wɔm be yeafɔ fu la, anyo be nàdi domenyiŋusẽfianu ŋuti aɖaŋuɖoɖo be nànya nu tso afɔku si le eme be nàka dɔlélea na viwòa ŋu.

Nusiwo mele be nàɖu kple nɔnɔme sia o

Ne ``Abetalipoproteinemia`` le ŋuwò la, ele be nàɖo seɖoƒe na ami (ami) ɖuɖu. Ele be ami si ame tsitsi ɖuna katã nade gram 15-20 gbesiagbe. Le ɖeviwo gome la, ele be wòade gram 5 gbesiagbe. Wò ɖɔkta alo nuɖuɖuŋutinunyala agblɔ nusi tututu nàwɔ na wò.

Ɣekaɣie wòle be nàkpɔ ɖɔkta?

Ne ``Abetalipoproteinemia'' ƒe dzesiwo le wò alo viwò ŋu la, ele be nàkpɔ ɖɔkta. Togbɔ be nɔnɔme sia ƒe dzesiwo ate ŋu asɔ kple dɔléle bubuwo tɔ hã la, wò ɖɔkta ate ŋu awɔ dodokpɔwo atsɔ aɖo kpe dɔlélea dzi ahadze atikewɔwɔ gɔme.

Nya siwo wòle be nàbia wò ɖɔkta

Ne abetalipoproteinemia le ŋuwò la, nya geɖe ate ŋu anɔ asiwò nàbia wò ɖɔkta. Wo dometɔ aɖewoe nye:

• Aleke gbegbee nye Abetalipoproteinemia dɔlélea nu sẽe?
• Aleke nɔnɔme sia akpɔ ŋusẽ ɖe dzinye le ɣeyiɣi didi aɖe megbe?
• Nukae nye atikewɔwɔ ƒe ɖoɖo si wokafu nam?
• Vitamin kple kpeɖeŋutɔ kawo koŋue wòle be mano, eye ɣeyiɣi didi kae wòle be mano?
• Ðe wòhiã be mawɔ tɔtrɔ aɖewo le nye nuɖuɖu ŋua?
• Nukae nye kuxi siwo ate ŋu ado tso ``Abetalipoproteinemia`` me?
• Nukae mate ŋu awɔ atsɔ axe mɔ ɖe kuxi siawo nu?
• Ðe kpekpeɖeŋunaha alo dɔwɔnu aɖewo li siwo akpe ɖe amesiwo ŋu abetalipoproteinemia le ŋua?

Mlɔeba la, ɖo ŋku esia dzi.

Abetalipoproteinemia ate ŋu anye nɔnɔme sesẽ aɖe. Ke hã, ele vevie be míaɖo ŋku edzi be atikewɔmɔnu siwo wɔa dɔ nyuie li. Ne èkpɔ egbɔ nyuie to nuɖuɖu si me ami mesɔ gbɔ ɖo o, vitamin kpeɖeŋutɔ, kple atikewɔmɔnu aɖewo dzi la, àte ŋu ana wò agbenɔnɔ nanyo ɖe edzi ŋutɔ eye nàxe mɔ ɖe kuxiwo nu. Ame geɖe siwo ŋu abetalipoproteinemia le la nɔa agbe bliboe eye wowɔa dɔ nyuie. Nu vevitɔe nye be nàwɔ dɔ kple wò ɖɔkta kplikplikpli awɔ atikewɔwɔ ƒe ɖoɖo si akpɔ wò nuhiahiã tɔxɛwo gbɔ. Mègahe ɖe megbe le nyawo biabia kple nuƒoƒo tso wò vɔvɔ̃wo ŋu le mɔa dzi o. Menye wò ɖeka koe o, eye ɖɔktawo le afisia be yewoakpe ɖe ŋuwò.

` Abetalipoproteinemia, Abetalipoproteinemia, domenyiŋusẽfianu ƒe dɔlélewo, ami ƒe xɔxlɔ̃, vitamin ƒe anyimanɔmanɔ, lipoproteins, MTTP domenyiŋusẽfianu, Sri Lanka Lãmesẽ