Wetin mek yu bɔdi nɔ ebul fɔ tek ɔyl ɛn vaytamɛn dɛn? (Abɛtalipoprotɛinemia) .

Yu dɔn ɛva tink bɔt us prɔblɛm dɛn kin kam if di bɔdi nɔ ebul fɔ tek di tin dɛn we i nid frɔm di it dɛn we wi de it, mɔ di fat ɛn sɔm vaytamɛn dɛn? Tide wi go tɔk bɔt wan pan dɛn kayn tin ya we nɔ kin apin so ɔltɛm bɔt we rili impɔtant. Wetin kin apin na dat wi bɔdi nɔ kin ebul fɔ tek di fat ɛn di vaytamɛn dɛn we kin sɔlv di fat fayn fayn wan. Lɛ wi tek wan luk pan wetin na dis sik, wetin mek i kin apun, ɛn wetin dɛn kin du fɔ am.

Wetin na Abetalipoproteinemia?

Fɔ tɔk am simpul wan, abetalipoproteinemia na wan sik we nɔ kin apin so ɔltɛm. Na wan sik wae yu bɔdi nɔr kin ebul fɔ tek di fat (ɔyl) ɛn sɔm vaytamɛn dɛm wae de na di it wae yu de it fayn fayn wan. Dis na bikɔs yu bɔdi nɔ ebul fɔ mek spɛshal mɔlyul dɛn we dɛn kɔl lipoprotein we de kɛr fat, kɔlɔstrel, ɛn vaytamɛn dɛn we de sɔlv fat (lɛk vaytamɛn A, D, E, ɛn K) ɔlsay na yu bɔdi.

tink dis we, dεn `lipoproteins` dεm ya lεk di motoka dεm we de transpכt nyutriεnt dεm insay wi bכdi. So we dɛn motoka ya dɔn go, di fat ɛn vaytamɛn nɔ de go usay dɛn nid fɔ go na di bɔdi. Dis kin mek i nɔ gɛt bɛtɛ fat ɛn vaytamɛn, mɔ di vaytamɛn A, D, E, ɛn K. Dis we aw i nɔ gɛt bɛtɛ tin kin mek i gɛt difrɛn wɛlbɔdi prɔblɛm dɛn.

Wetin rili de apin na dis sityueshɔn?

Tink bɔt dis we: we yu de it it, di fat ɛn di vaytamɛn dɛn we de insay de nid fɔ kɔmɔt na di intestinal ɛn go insay di blɔd. Na da tɛm de nɔmɔ dɛn go ebul fɔ go insay di blɔd ɛn kɛr dɛn go ɔlsay na di bɔdi ɛn go insay di sɛl dɛn. dis de mek am izi bay di lipoprotein dεm we wi bin dכn tכk bכt. pan pɔsin we gɛt abetalipoproteinemia, dɛn lipoprotein ya nɔ de mek fayn fayn wan, so di fat ɛn vaytamɛn dɛn nɔ gɛt we fɔ pas na di intestinal.

Di men prɔblɛm dɛn we dis kin kam wit

we dεn `lipoprotein` dεm ya dכn lכs, sεvεra men prכblεm dεm kin apin:

• Fat malabsorption: Dis kin mek yu gɛt tin dɛn lɛk dayarɛa, we kin mek yu blo, yu nɔ gɛt bɔku bɔku bɔdi, ɛn yu nɔ kin it fayn.
• Vitamin we nɔ de: Dɛn tin ya kin mek yu gɛt difrɛn prɔblɛm dɛn. Dɛn kin bi wae yu nɔr de si fayn fayn wan, yu nɔr de fil fayn, ɛn yu mɔsul dɛn nɔr de woke fayn.
• Acanthocytosis: Dis na smɔl kɔmplikɛt wɔd, nɔto so? Fɔ tɔk am simpul wan, yu rɛd blɔd sɛl dɛn gɛt difrɛn shep, lɛk sta we gɛt chukchuk, ɔ sɔntin lɛk dat. dis dεn kכl am ``Acanthocytosis.'' Dis kin mek yu gεt anemia. Dis min se di bɔdi nɔ gɛt bɛtɛ wɛlbɔdi rɛd blɔd sɛl.

Abetalipoproteinemia na siriɔs sik we kin mek yu gɛt bɔku prɔblɛm wit yu wɛlbɔdi. DisNaw, no mɛrɛsin nɔ de fɔ mɛn am. Bɔt if dɛn trit am fayn , dɛn kin kɔntrol di sik dɛn ɛn dɛn kin avɔyd di prɔblɛm dɛn we kin apin. Bɔku tɛm, di tritmɛnt na fɔ it tin dɛn we nɔ gɛt bɔku fat, fɔ gi vaytamɛn, ɛn difrɛn tritmɛnt dɛn we de tɔch sɔm patikyula sayn dɛn.

Aw de sik kin tan lɛk?

di simptom dεm fכ `Abetalipoproteinemia` kin bigin we dεn bεlε. afta yu gi yu pikin in bεlε, i kin gεt vכmit, dayariya, εn fεt, fכ smεl sכl (steatorrhea) (wi kin kכl dis "steatorrhea," we min se yu pikin in sכl dεm kin slim, כyl, sכmtεm i kin fכlכ, εn i kin sכm sכm sכm sכmtεm). Afta sɔm tɛm, yu go notis se yu pikin nɔ de gɛt bɔku bɔku bɔdi ɔ i nɔ de gro lɛk aw yu bin de tink. Wi kɔl dis growth faltering .

pan big pipul dεm, abetalipoproteinemia, we na wan vaytamεn we dεn nכ gεt, kin afekt difrεn bכdi sistεm dεm. Di fɔs sayn kin bi we sɔm riflɛs dɛn kin lɔs. Ɔda sayn dɛn kin bi:

• Mɔsul dɛn de shek shek, wik, ɛn pen.
• Taya, shɔt briz, ɔ at bit kwik kwik wan.
• di kכva we yu lכw bכk go inkrεs (lordosis) כ di kכva we yu כp bak go inkrεs (kyphoscoliosis). Dis na chenj dεm na di shep fכ yu spayna.
• I nɔ izi fɔ kɔdin di we aw di mɔsul dɛn de wok. Dis kin mek yu muv strenj, we yu nɔ ebul fɔ kɔntrol we yu de waka ɔ du wok. Dɛn kɔl dis ataxia .
• Slɔr tɔk bikɔs i nɔ izi fɔ kɔntrol di tɔŋ ɔ yu vɔys. Dɛn kɔl dis sik we dɛn kɔl dysarthria .
• Prɔblɛm fɔ si: Tin dɛn lɛk strabismus, we yu nɔ ebul fɔ kɔntrol yu yay (nystagmus), ɔ retinitis pigmentosa, we na sik we kin mek yu nɔ ebul fɔ si fayn na nɛt.
• Anemia na wan sik wae de mek di lεvεl כf hεlty rεd blɔd sεl dεm na di bכdi de dכn, we de mek yu taya εn wik.
• Di skin kin yɔlɔ ɔ di yay kin wayt (jaundice).
• Bloating, swel.
• Bren de pwɛl as tɛm de go.

Aw dis sik kin kam?

di abetalipoproteinemia de kכz fכ wan mכtεshכn na di MTTP jin. di MTTP jin de tεl wi bכdi fכ mek wan protin we dεn kכl maykrosכmal triglisεrayd tכnfכs protin (MTP). dis MTP protin implεnt fכ mek di lipoprotein dεm we wi bin dכn tכk bכt insay wi liva εn intestinal dεm.

Jɛnɛtik kɔz

Yu go mɛmba se dɛn nid lipoprotein fɔ kɛr fat, kɔlɔstrel, ɛn vaytamɛn dɛn we kin sɔlv fat frɔm di intestinal ɛn go na di blɔd. Dɔn di blɔd kin kɛr dɛn lipoprotein ya ɔlsay na di bɔdi so dat wi tisu dɛn go ebul fɔ tek dɛn impɔtant tin ya.

so, we chenj de insay di `MTTP` jin, di bכdi nכ de ebul fכ prodyuz di `MTP` protin. we nכ inof `MTP` protin de, di bכdi nכ de ebul fכ transpכt fεt tru di intestinal sεl dεm. dis de afekt sεkכnd di prodakshכn fכ `lipoproteins`, we de mek di nyutriεnt dεm nכ de transpכt fayn fayn wan εn absכp. na biכs fכ dεn nyutrishכn dεfishכn dεm ya di simptom dεm fכ `Abetalipoproteinemia` de apin.

Aw i de kɔmɔt frɔm jɛnɛreshɔn to jɛnɛreshɔn

di abetalipoproteinemia de pas dכn tru famili dεm insay wan כtosom rεsεsiv patεn. כtosom rεsεsiv min se dεn tu mama εn papa gεt kכpi fכ di jin we dεn chenj, εn di pikin kin gεt am. Bɔt dɛn mama ɛn papa dɛn de nɔ gɛt ɛni sayn fɔ Abetalipoproteinemia. Dis min se na dɛn nɔmɔ de kɛr di sik. Fɔ mek pikin gɛt di sik, in mama ɛn papa ɔl tu fɔ gɛt di jin we nɔ fayn.

Aw dɛn kin du di diagnosis?

Yu dɔktɔ go no se yu gɛt abetalipoproteinemia bay we i du ɛgzam pan yu bɔdi. I go aks yu bɔt yu sik ɛn mɛrɛsin histri. Dɛn go ɔda bak fɔ du difrɛn blɔd tɛst fɔ luk fɔ sayn dɛn fɔ di sik. dis tεst dεm go luk di lεvεl dεm fכ di fεt dεm na yu plasma (wi kכl dεn lipid lεvεl dεm ya) εn di lipoprotein dεm. Dɛn go chɛk bak di shep ɛn strɔkchɔ fɔ yu rɛd blɔd sɛl dɛn (fɔ si if yu gɛt wan sik we dɛn kɔl akantosaytɔsis), di we aw yu liva de wok, ɛn di lɛvɛl we yu gɛt di vaytamɛn dɛn we kin sɔlv di fat (vitamin A, D, E, ɛn K).

Ɔda tɛst dɛn we dɛn kin nid na:

• Wan ay ɛgzam.
• Wan nyurolɔjik ɛgzam.
• εndoskopi (na egzamin we de luk insay di intestinal dεm).
• Wan ɔltra saund skan fɔ di liva.
• Wan stɔl tɛst, mɔ fɔ si ɔmɔs fat de pas na di stɔl.

Apat frɔm dat, yu dɔktɔ kin se yu fɔ tɛst yu jɛnɛtiks fɔ si if yu gɛt chenj na di MTTP jin.

Wetin na di tritmɛnt dɛn?

Di tritmɛnt fɔ abetalipoproteinemia de pe atɛnshɔn pan yu patikyula simptom dɛm. Bɔku tɛm yu go nid fɔ wok wit wan tim we gɛt difrɛn pipul dɛn we de kia fɔ wɛlbɔdi biznɛs. Dɛn tin ya kin bi:

• Di wan dɛn we de stɔdi bɔt nyurolɔji.
• Dɔktɔ dɛn we spɛshal pan liva sik dɛn (hepatologists).
• Ay spɛshal pipul dɛn (ɔftalmɔlɔjis dɛn).
• Spɛshal pipul dɛn we de stɔdi bɔt fat (lipidɔlɔjis).
• Di wan dɛn we de mɛn di at.
• Di wan dɛn we sabi bɔt bon dɛn.
• Gastroenterologist dεm na spεshal pipul dεm na di dijestiv sistεm.
• Di wan dɛn we sabi bɔt it.

Di tritmɛnt fɔ pikin dɛn

Fɔ di pikin dɛn, di dɔktɔ go mek shɔ se dɛn gro ɛn divɛlɔp nɔmal wan.Dɛn kin se yu fɔ it tin dɛn we gɛt bɔku midul chen triglisɛrɛyd (MCT) ɛn sɔm patikyula vaytamɛn dɛn. Dɛn kayn fat ya we dɛn kɔl MCT, nɔ tan lɛk ɔda kayn fat, ɛn i izi fɔ di bɔdi fɔ tek.

Tritmɛnt fɔ big pipul dɛn

Fɔ big pipul dɛn, dɛn kin se dɛn fɔ mek it plan fɔ mɛn pipul dɛn we gɛt it dɛn we nɔ gɛt bɔku lɔng chen sɛtyuret fat asid . Dis fɔ ɛp fɔ pul yu gastrointestinal symptoms (bɛlɛ at pwɛl). Fɔ ɛgzampul:

• Chikin, tik, ɛn ɔda mit dɛn we nɔ gɛt wan sik.
• Fish.
• Dray bins, pis, lentil.
• Milk we nɔ gɛt fat ɔ we nɔ gɛt bɔku fat, kɔtjɛt chiz, yogɔt.
• Frut ɛn vɛjitebul dɛn.
• Wul gren bred, pasta, siriɔs, ɛn rays.

Dɔn bak, yu dɔktɔ kin tɛl yu fɔ tek bɔku vaytamɛn dɛn we kin sɔlv fat (lɛk vaytamɛn A, E, D, ɛn K) . Dis kin ɛp fɔ mek yu nɔr gɛt ɔr impɔtant bɔrku pan yu sik dɛn. Fɔ ɛgzampul, vaytamɛn E ɛn vaytamɛn A tritmɛnt kin mek yu nɔ gɛt ɔ delay di prɔblɛm dɛn we kin apin na di nervɔs sistɛm ɛn di retina. If yu tek vaytamɛn D sɔpɔtmɛnt, i kin ɛp fɔ pul sɔm sayn dɛn we gɛt fɔ du wit di bon dɛn we de gro.

Tritmɛnt fɔ prɔblɛm dɛn we gɛt fɔ du wit di nervɔs sistɛm

Di prɔblɛm dɛn we kin apin na di nervɔs sistɛm kin nid fɔ gɛt tritmɛnt lɛk fizik tɛrapi, tɔk tɛrapi, ɔ ɔkupeshɔn tɛrapi.

Wetin na di chans fɔ mek i wɛl?

di luk (prognosis) fכ rεkכvεshכn frכm abetalipoproteinemia de dipכnt pan sεvεra tin dεm, inklud:

• Di ej we dɛn kin ol we dɛn no di sik.
• Taim fɔ bigin tritmɛnt.
• Tayp f `MTTP` jin mכtεshכn.

If yu no di sik kwik kwik wan ɛn trit yu wit vaytamɛn sɔpɔtmɛnt, i kin mek yu nɔ gɛt prɔblɛm, i kin mek yu nɔ gɛt am, ɔ i kin mek yu nɔ gɛt prɔblɛm. I kin mek bak di layf we pɔsin de liv bɛtɛ. Sɔm pipul dɛn kin liv te dɛn ol 70 ia. If dɛn nɔ trit di sik, i kin mek dɛn day we dɛn ol 20 ia bikɔs dɛn nɔ gɛt bɛtɛ tin fɔ it.

Yu tink se dɛn go ebul fɔ stɔp dis?

Bikɔs abetalipoproteinemia na wan jenɛtik kɔndishɔn, yu nɔ go ebul fɔ stɔp am. If yu gɛt bɛlɛ ɔ yu de plan fɔ gɛt bɛlɛ, i go fayn fɔ mek yu go to yu jenɛtik kɔyl fɔ no bɔt yu risk fɔ pas di sik to yu pikin.

Tin dɛm wae yu nɔr fɔ it wit dis kɔndishɔn

If yu gɛt ``Abetalipoproteinemia``, yu fɔ stɔp di fat (ɔyl) we yu de it. di tכtal fεt we big man fכ it fכ less dan 15-20 gram pan de. Fɔ pikin dɛn, i fɔ smɔl pas 5 gram fɔ wan de. Yu dɔktɔ ɔ pɔsin we sabi bɔt it go tɛl yu di rayt tin fɔ du.

Ustɛm yu fɔ go to dɔktɔ?

If yu ɔ yu pikin gɛt sayn dɛm fɔ ``Abetalipoproteinemia,'' yu fɔ go to dɔktɔ. Pan ɔl we di sayn dɛm fɔ dis sik kin tan lɛk ɔda sik dɛm, yu dɔktɔ kin du tɛst fɔ no if yu gɛt di sik ɛn bigin fɔ trit yu.

Kwɛstyɔn dɛn we yu fɔ aks yu dɔktɔ

If yu gɛt abetalipoproteinemia, yu kin gɛt bɔku kwɛstyɔn dɛn fɔ aks yu dɔktɔ. Sɔm pan dɛn na:

• Aw siriɔs mi Abetalipoproteinemia kɔndishɔn de?
• Aw dis tin go afɛkt mi fɔ lɔng tɛm?
• Wetin na di tritmɛnt plan we dɛn kin advays fɔ mi?
• Us patikyula vaytamɛn ɛn sɔpɔtmɛnt dɛn a fɔ tek, ɛn fɔ aw lɔng?
• A nid fɔ mek ɛni chenj pan di tin dɛn we a de it?
• Wetin na di poshubul komplikashכn dεm fכ ``Abetalipoproteinemia``?
• Wetin a go du fɔ mek dɛn nɔ gɛt dɛn prɔblɛm ya?
• Ɛni sɔpɔt grup ɔ risɔs de fɔ ɛp pipul dɛn we gɛt abetalipoproteinemia?

Fɔ dɔn, mɛmba dis.

Abetalipoproteinemia kin bi wan tin we nɔ izi fɔ gɛt. Bɔt i impɔtant fɔ mɛmba se tritmɛnt dɛn de we go ɛp wi. If yu tek tɛm manej yu it tru it we nɔ gɛt bɔku fat, vaytamɛn sɔpɔtmɛnt, ɛn sɔm tritmɛnt dɛn, yu kin rili ɛp fɔ mek yu kwaliti layf bɛtɛ ɛn mek yu nɔ gɛt prɔblɛm dɛn. Bɔrku pipul dɛm wae gɛt abetalipoproteinemia de liv ful ɛn prodaktiv layf. Di tin we impɔtant pas ɔl na fɔ wok togɛda wit yu dɔktɔ fɔ mek wan tritmɛnt plan we go mit yu patikyula nid dɛn. Nɔ shek fɔ aks kwɛstyɔn ɛn tɔk bɔt wetin yu de fred we yu de go. Nɔto yu wan de, ɛn dɔktɔ dɛn de ya fɔ ɛp.

` Abetalipoproteinemia, Abetalipoproteinemia, jεnεtik sik dεm, fεt absכpshכn, vaytamεn dεfisiεns, lipoprotein, MTTP jin, Sri Lanka Wεlth