Kutheni umzimba wakho ungakwazi ukufunxa iioyile kunye neevithamini? (Abetalipoproteinemia)

Ngaba wakha wazibuza ukuba zeziphi iingxaki ezinokuvela ukuba umzimba awukwazi ukufunxa izondlo ozifunayo ekutyeni esikutyayo, ingakumbi amafutha kunye neevithamini ezithile? Namhlanje siza kuthetha ngenye imeko yemfuza engaqhelekanga kodwa ebaluleke kakhulu. Okwenzekayo kukuba umzimba wethu awukwazi ukufunxa amafutha kunye neevithamini ezinyibilikayo kakuhle. Makhe sijonge ukuba yintoni le meko, kutheni isenzeka, kwaye yintoni enokwenziwa ngayo.

Yintoni i-Abetalipoproteinemia?

Ngamafutshane, i-abetalipoproteinemia sisifo esingaqhelekanga semfuza. Yimeko apho umzimba wakho ungakwazi ukufunxa kakuhle amafutha (iioyile) kunye neevithamini ezithile ekutyeni okutyayo. Oku kungenxa yokuba umzimba wakho awukwazi ukuvelisa iimolekyuli ezikhethekileyo ezibizwa ngokuba zii-lipoproteins ezithwala amafutha, i-cholesterol, kunye neevithamini ezinyibilikayo kumafutha (ezifana neevithamini A, D, E, kunye ne-K) emzimbeni wakho wonke.

Cinga ngale ndlela, ezi 'lipoproteins' zifana nezithuthi ezithutha izondlo emizimbeni yethu. Ngoko ke xa ezi zithuthi zingekho, amafutha kunye neevithamini aziyi apho kufuneka ziye khona emzimbeni. Oku kubangela ukunqongophala kwamafutha kunye neevithamini, ingakumbi iivithamini A, D, E, kunye ne-K. Oku kunqongophala kunokubangela iingxaki ezahlukeneyo zempilo.

Yintoni kanye kanye eyenzekayo kule meko?

Cinga ngale ndlela: xa usitya ukutya, amafutha kunye neevithamini ezinyibilikayo ezikuyo kufuneka zifunxwe zisuka emathunjini ziye egazini. Kuphela kulapho zinokufunxwa khona egazini zize zithwalwe emzimbeni wonke nakwiiseli. Oku kwenziwa lula zii-lipoproteins ezikhankanyiweyo. Kumntu one-abetalipoproteinemia, ezi lipoproteins aziveliswanga kakuhle, ngoko ke amafutha kunye neevithamini azinandlela yokudlula emathunjini.

Iingxaki eziphambili ezibangelwe yile

Xa ezi 'lipoproteins' zilahlekile, iingxaki ezininzi eziphambili zinokuvela:

• Ukungafunxwa kwamafutha: Oku kunokubangela iimeko ezifana norhudo, nto leyo enokubangela ukudumba, ukwehla kobunzima kunye nokungondleki kakuhle.
• Ukunqongophala kweevithamini: Oku kunokubangela iingxaki ezahlukeneyo. Zingabandakanya iingxaki zokubona, iingxaki zenkqubo yemithambo-luvo, kunye nobuthathaka bemisipha.
• I-Acanthocytosis: Eli ligama elintsonkothileyo, akunjalo? Ngamafutshane, iiseli zakho ezibomvu zegazi zinesimo esahlukileyo, njengeenkwenkwezi ezinamava, okanye into efana naleyo. Oku kubizwa ngokuba yi-"Acanthocytosis." Oku kunokukhokelela kwi-anemia. Oku kuthetha ukuba umzimba awunazo iiseli ezibomvu zegazi ezisempilweni ezaneleyo.

I-Abetalipoproteinemia yimeko enzima enokubangela iingxaki ezinkulu zempilo.Okwangoku akukho nyango. Nangona kunjalo, ngonyango olufanelekileyo , iimpawu zinokulawulwa kwaye iingxaki zinokuthintelwa. Unyango luhlala luquka ukutya okunamafutha aphantsi, izongezo zeevithamini, kunye neendlela ezahlukeneyo zonyango ezijolise kwiimpawu ezithile.

Zinjani iimpawu?

Iimpawu ze-'Abetalipoproteinemia' zihlala ziqala ebuntwaneni. Emva kokuncancisa, umntwana wakho usenokuba nokuhlanza, urhudo, kunye nendle enamafutha, enevumba elibi (i-steatorrhea) (siyibiza ngokuba yi-"steatorrhea," oko kuthetha ukuba indle yomntwana wakho ithambile, inamafutha, ngamanye amaxesha iyadada, kwaye inevumba elibi kancinci). Emva kwexesha elithile, unokubona ukuba umntwana wakho akakhuli okanye akakhuli njengoko kulindelekile. Oku sikubiza ngokuba kukukhula okuyaphambuka .

Kubantu abadala, i-abetalipoproteinemia, ukungabikho kweevithamini emzimbeni, ichaphazela iinkqubo ezahlukeneyo zomzimba. Uphawu lokuqala lusenokuba kukulahlekelwa ziindlela ezithile zokusabela. Ezinye iimpawu zingabandakanya:

• Ukuqhaqhazela kwemisipha, ubuthathaka, kunye nentlungu.
• Ukudinwa, ukuphefumla nzima, okanye ukubetha kwentliziyo ngokukhawuleza.
• Ukwanda kokugoba komqolo wakho ongezantsi (i-lordosis) okanye ukwanda kokugoba komqolo wakho ongasentla (i-kyphoscoliosis). Ezi ziinguqu kwimo yomqolo wakho.
• Ubunzima bokulungelelanisa indlela izihlunu ezisebenza ngayo. Oku kunokubangela iintshukumo ezingaqhelekanga nezingenakulawuleka xa uhamba okanye usenza imisebenzi. Oku kubizwa ngokuba yi -ataxia .
• Intetho engacacanga ngenxa yobunzima bokulawula ulwimi okanye ilizwi. Le meko ibizwa ngokuba yi -dysarthria .
• Iingxaki zokubona: Izinto ezifana ne-strabismus, iintshukumo zamehlo ezingalawulekiyo (nystagmus), okanye i-retinitis pigmentosa, isifo esibangela ukuncipha kokubona ebusuku.
• I-anemia yimeko apho izinga leeseli ezibomvu zegazi ezisempilweni emzimbeni liyehla, nto leyo ebangela ukudinwa nobuthathaka.
• Ukutyheli kwesikhumba okanye amhlophe emehlweni (i-jaundice).
• Ukudumba, ukudumba.
• Ukonakala kwengqondo ngokuhamba kwexesha.

Esi sifo sikhula njani?

I-Abetalipoproteinemia ibangelwa kukuguquka kwejini ye-MTTP. Ijini ye-MTTP ixelela umzimba wethu ukuba wenze iproteni ebizwa ngokuba yi-microsomal triglyceride transfer protein (MTP). Le protein ye-MTP ibalulekile ekwenzeni ii-lipoproteins ezikhankanyiweyo kwisibindi nasemathunjini ethu.

Unobangela wemfuza

Ungakhumbula ukuba ii-lipoprotein ziyafuneka ukuze kuthuthwe amafutha, i-cholesterol, kunye neevithamini ezinyibilikayo emathunjini zisiwe egazini. Emva koko igazi lithwala ezi lipoprotein kuwo wonke umzimba ukuze izicubu zethu zikwazi ukufunxa ezi zondlo zibalulekileyo.

Ngoko ke, xa kukho utshintsho kwi-gene ye-'MTTP', umzimba awukwazi ukuvelisa i-'MTP' protein. Xa i-'MTP' protein ingekho ngokwaneleyo, umzimba awukwazi ukuthutha amafutha ngeeseli zamathumbu. Oku kuchaphazela okwesibini ukuveliswa kwe-'lipoproteins', okuthintela ukuba izondlo zingathuthwa kwaye zifunxwe ngokufanelekileyo. Kungenxa yezi ngxaki zesondlo apho iimpawu ze-'Abetalipoproteinemia' zenzeka khona.

Indlela ephuma ngayo kwisizukulwana ukuya kwesinye

I-Abetalipoproteinemia idluliselwa kwiintsapho ngendlela ye-autosomal recessive pattern. I-Autosomal recessive ithetha ukuba bobabini abazali banekopi ye-gene etshintshiweyo, kwaye umntwana uyizuza njengelifa. Nangona kunjalo, abo bazali abanazo iimpawu ze-Abetalipoproteinemia. Oku kuthetha ukuba bangabathwali besifo kuphela. Ukuze umntwana abe nesifo, bobabini abazali kufuneka bazuze i-gene enesiphene.

Yenziwa njani le nto yokuxilonga?

Ugqirha wakho uza kuxilonga i-abetalipoproteinemia ngokwenza uvavanyo lomzimba. Uza kukubuza ngeempawu zakho kunye nembali yakho yezonyango. Baza kuyalela uvavanyo lwegazi olwahlukeneyo ukuze bajonge iimpawu zeso simo. Olu vavanyo luza kujonga amanqanaba amafutha kwi-plasma yakho (esiwabiza la manqanaba amafutha) kunye nee-lipoprotein. Baza kujonga nemilo kunye nolwakhiwo lweeseli zakho ezibomvu zegazi (ukubona ukuba unesifo esibizwa ngokuba yi-acanthocytosis), ukusebenza kwesibindi, kunye namanqanaba eevithamini ezinyibilikayo kumafutha (iivithamini A, D, E, kunye ne-K).

Ezinye iimvavanyo ezinokuthi zifuneke zezi:

• Uvavanyo lwamehlo.
• Uvavanyo lwe-neurological.
• I-Endoscopy (uvavanyo olujonga ngaphakathi kwamathumbu).
• Iskeni yesibindi nge-ultrasound.
• Uvavanyo lwesitulo, ingakumbi ukubona ukuba kudlula amafutha angakanani kwisitulo.

Ukongeza, ugqirha wakho unokucebisa uvavanyo lwemfuza ukuze kubonwe ukuba unayo na inguqu kwi-MTTP gene.

Zithini iindlela zonyango?

Unyango lwe-abetalipoproteinemia lugxile kwiimpawu zakho ezithile. Kuya kufuneka usebenze rhoqo neqela lababoneleli bezempilo abahlukeneyo. Oku kungabandakanya:

• Iingcali ze-neurological.
• Oogqirha abaziingcali kwizifo zesibindi (iingcali ze-hepatologists).
• Iingcali zamehlo (iingcali zamehlo).
• Iingcali ezifunda ngamafutha (iingcali zempilo yamafutha).
• Iingcali zentliziyo.
• Iingcali zamathambo.
• Iingcali ze-gastroenterologists ziingcali kwinkqubo yokugaya ukutya.
• Iingcali zezondlo.

Unyango losana

Kwiintsana, ugqirha uya kuqinisekisa ukukhula okuqhelekileyo nophuhliso.Ukutya okune-triglycerides eninzi (ii-MCT) kunye neevithamini ezithile kunokucetyiswa. Olu hlobo lwamafutha, olubizwa ngokuba zii-MCT, alufani nezinye iintlobo zamafutha, kwaye kulula ukuba umzimba uwafunxe.

Unyango lwabantu abadala

Kubantu abadala, kucetyiswa isicwangciso sokutya esinonyango esiquka ukutya okunamafutha agcweleyo angaphantsi kwe-long-chain . Oku kufanele kuncede ekunciphiseni iimpawu zesisu sakho (ukuphazamiseka kwesisu). Umzekelo:

• Inkukhu, iturkey, kunye nezinye iinyama ezingenamafutha.
• Intlanzi.
• Iimbotyi ezomileyo, iimbotyi, iilentili.
• Ubisi olungenamafutha okanye olunamafutha aphantsi, itshizi yekottage, iyogathi.
• Iziqhamo nemifuno.
• Isonka esipheleleyo sengqolowa, ipasta, iicereal, kunye nerayisi.

Kwakhona, ugqirha wakho unokucebisa ukuba uthathe iidosi eziphezulu zeevithamini ezinyibilikayo kumafutha (ezifana neevithamini A, E, D, kunye ne-K) . Oku kunokunceda ukuthintela okanye ukuphucula uninzi lweempawu zakho. Umzekelo, unyango lwevithamini E kunye nevithamini A lunokuthintela okanye lulibazise iingxaki zenkqubo yemithambo-luvo kunye ne-retina. Ukuthatha izongezo zevithamini D kunokunceda ukunciphisa ezinye iimpawu ezinxulumene nokukhula kwamathambo.

Unyango lweengxaki zenkqubo ye-nervous

Iingxaki zenkqubo yemithambo-luvo zinokufuna unyango olufana nonyango lomzimba, unyango lokuthetha, okanye unyango lomsebenzi.

Zithini amathuba okuphila kwakhona?

Ithemba (ukuxela kwangaphambili) lokuchacha kwi-abetalipoproteinemia lixhomekeke kwizinto ezahlukeneyo, kuquka:

• Ubudala xa uxilongwa.
• Lixesha lokuqala unyango.
• Uhlobo lokuguqulwa kwezakhi zofuzo ze-`MTTP`.

Ukuxilongwa kwangoko kunye nonyango ngee-vitamin supplements kunokuthintela, kulibazise, ​​okanye kunciphise iingxaki. Kunokuphucula nobude bobomi. Abanye abantu banokuphila bade babe neminyaka engama-70 ubudala. Ukuba ayinyangwa, le meko inokubangela ukufa xa bekwiminyaka engama-20 ngenxa yokunqongophala kokutya.

Ngaba oku kungathintelwa?

Ngenxa yokuba i-abetalipoproteinemia yimeko yemfuza, awunakuyithintela. Ukuba ukhulelwe okanye uceba ukukhulelwa, kungcono ukufuna iingcebiso zemfuza ukuze ufunde ngomngcipheko wakho wokudlulisela esi sifo kumntwana wakho.

Izinto ekungafanele uzitye xa uneso sifo

Ukuba une-"Abetalipoproteinemia", kufuneka unciphise ukutya kwakho kwamafutha (ioyile). Ubungakanani bamafutha afunekayo kumntu omdala kufuneka bube ngaphantsi kwe-15-20 grams ngosuku. Kubantwana, kufuneka bube ngaphantsi kwe-5 grams ngosuku. Ugqirha wakho okanye ingcali yesondlo uza kukuxelela into omawuyenze.

Ufanele uye nini kugqirha?

Ukuba wena okanye umntwana wakho uneempawu ze-"Abetalipoproteinemia," kufuneka nibone ugqirha. Nangona iimpawu zale meko zinokufana nezezinye izifo, ugqirha wakho angenza uvavanyo ukuqinisekisa ukuxilongwa aze aqalise unyango.

Imibuzo omele uyibuze ugqirha wakho

Ukuba une-abetalipoproteinemia, usenokuba nemibuzo emininzi ekufuneka uyibuze ugqirha wakho. Eminye yayo yile:

• Ingxaki yam ye-Abetalipoproteinemia imbi kangakanani?
• Le meko iza kundichaphazela njani ekuhambeni kwexesha?
• Ithini isicwangciso sonyango esicetyiswayo kum?
• Zeziphi iivithamini kunye nezongezo ezithile ekufuneka ndizithathe, kwaye ixesha elingakanani?
• Ngaba kufuneka ndenze naluphi na utshintsho kwindlela enditya ngayo?
• Ziziphi iingxaki ezinokubakho ze-``Abetalipoproteinemia``?
• Ndingenza ntoni ukuthintela ezi ngxaki?
• Ngaba kukho amaqela enkxaso okanye izixhobo ezikhoyo zokunceda abantu abane-abetalipoproteinemia?

Okokugqibela, khumbula oku.

I-Abetalipoproteinemia inokuba yingxaki enzima. Nangona kunjalo, kubalulekile ukukhumbula ukuba kukho unyango olusebenzayo olufumanekayo. Ngolawulo olucokisekileyo ngokutya okunamafutha aphantsi, izongezo zeevithamini, kunye nonyango oluthile, unokuphucula kakhulu umgangatho wobomi bakho kwaye uthintele iingxaki. Abantu abaninzi abane-abetalipoproteinemia baphila ubomi obupheleleyo nobunemveliso. Eyona nto ibalulekileyo kukusebenza ngokusondeleyo nogqirha wakho ukuze uphuhlise isicwangciso sonyango esihlangabezana neemfuno zakho ezithile. Musa ukuthandabuza ukubuza imibuzo kwaye uthethe ngoloyiko lwakho endleleni. Awuwedwa, kwaye oogqirha balapha ukukunceda.

I- Abetalipoproteinemia, i-Abetalipoproteinemia, izifo zemfuza, ukufunxwa kwamafutha, ukungabikho kweevithamini, ii-lipoproteins, i-MTTP gene, iSri Lanka Health