Kungani umzimba wakho ungakwazi ukumunca amafutha namavithamini? (Abetalipoproteinemia)

Wake wazibuza ukuthi yiziphi izinkinga ezingavela uma umzimba ungakwazi ukumunca izakhamzimba ozidingayo ekudleni esikudlayo, ikakhulukazi amafutha namavithamini athile? Namuhla sizokhuluma ngesimo esisodwa esingavamile kodwa esibaluleke kakhulu sezakhi zofuzo. Okwenzekayo ukuthi umzimba wethu awukwazi ukumunca amafutha namavithamini ancibilika emafutheni ngendlela efanele. Ake sibheke ukuthi siyini lesi simo, kungani senzeka, nokuthi yini engenziwa ngaso.

Kuyini i-Abetalipoproteinemia?

Kalula nje, i-abetalipoproteinemia iyisifo esingavamile kakhulu sofuzo. Yisimo lapho umzimba wakho ungakwazi ukumunca kahle amafutha (amafutha) namavithamini athile ekudleni okudlayo. Lokhu kungenxa yokuthi umzimba wakho awukwazi ukukhiqiza ama-molecule akhethekile abizwa ngokuthi ama-lipoprotein athwala amafutha, i-cholesterol, namavithamini ancibilikayo emafutheni (njengevithamini A, D, E, kanye ne-K) emzimbeni wakho wonke.

Cabanga ngale ndlela, lawa 'ma-lipoprotein' afana nezimoto ezithutha izakhamzimba emizimbeni yethu. Ngakho-ke uma lezi zimoto seziphelile, amafutha namavithamini awayi lapho kudingeka aye khona emzimbeni. Lokhu kuphumela ekuntulekeni kwamafutha namavithamini, ikakhulukazi amavithamini A, D, E, kanye no-K. Lokhu kuntuleka kungabangela izinkinga ezahlukene zempilo.

Kwenzekani ngempela kulesi simo?

Cabanga ngale ndlela: uma udla ukudla, amafutha namavithamini ancibilikayo kuwo kudingeka amuncwe emathunjini aye egazini. Kulapho kuphela lapho angamuncwa khona egazini futhi athwalwe emzimbeni wonke nasemaseli. Lokhu kwenziwa lula yi-lipoproteins okukhulunywe ngayo ngenhla. Kumuntu one-abetalipoproteinemia, lawa ma-lipoprotein awakhiqizwa kahle, ngakho-ke amafutha namavithamini awakwazi ukudlula emathunjini.

Izinkinga ezinkulu ezibangelwa yilokhu

Uma lawa 'lipoprotein' elahleka, kungavela izinkinga eziningana ezinkulu:

• Ukumuncwa kwamafutha: Lokhu kungabangela izimo ezifana nesifo sohudo, okungaholela ekuvuvukeni, ukwehla kwesisindo kanye nokungondleki kahle.
• Ukuntuleka kwamavithamini: Lokhu kungabangela izinkinga ezahlukahlukene. Zingafaka phakathi izinkinga zokubona, izinkinga zesimiso sezinzwa, kanye nobuthakathaka bemisipha.
• I-Acanthocytosis: Leli igama eliyinkimbinkimbi kancane, akunjalo? Kalula nje, amangqamuzana akho abomvu egazi anesimo esihlukile, njengenkanyezi enameva, noma into efana naleyo. Lokhu kubizwa ngokuthi "i-Acanthocytosis." Lokhu kungaholela ekulahlekelweni kwegazi. Lokhu kusho ukuthi umzimba awunawo amangqamuzana abomvu egazi anempilo anele.

I-Abetalipoproteinemia yisimo esibi kakhulu esingabangela izinkinga ezinkulu zempilo.Okwamanje akukho ikhambi. Kodwa-ke, ngokwelashwa okufanele , izimpawu zingalawulwa futhi izinkinga zingavinjelwa. Ukwelashwa kuvame ukuhlanganisa ukudla okunamafutha aphansi, izithasiselo zamavithamini, kanye nezindlela zokwelapha ezahlukahlukene eziqondisa izimpawu ezithile.

Zinjani izimpawu?

Izimpawu ze-'Abetalipoproteinemia' zivame ukuqala ebuntwaneni. Ngemva kokuncelisa, ingane yakho ingase ihlanze, ihudo, kanye nendle enamafutha, enephunga elibi (i-steatorrhea) (siyibiza ngokuthi "i-steatorrhea," okusho ukuthi indle yengane yakho iyashelela, inamafutha, ngezinye izikhathi iyantanta, futhi inephunga elibi kancane). Ngemva kwesikhashana, ungase uqaphele ukuthi ingane yakho ayikhuli noma ayikhuli njengoba kulindelekile. Lokhu sikubiza ngokuthi ukukhula kuyantengantenga .

Kwabantu abadala, i-abetalipoproteinemia, ukuntuleka kwamavithamini, kuthinta izinhlelo ezahlukene zomzimba. Uphawu lokuqala kungaba ukulahlekelwa ezinye izindlela zokusabela. Ezinye izimpawu zingafaka:

• Ukuqhaqhazela kwemisipha, ubuthakathaka, kanye nobuhlungu.
• Ukukhathala, ukuphelelwa umoya, noma ukushaya kwenhliziyo okusheshayo.
• Ukwanda kokugoba komhlane wakho ongezansi (i-lordosis) noma ukwanda kokugoba komhlane wakho ongenhla (i-kyphoscoliosis). Lokhu kuyizinguquko esimweni somgogodla wakho.
• Ubunzima bokuxhumanisa indlela imisipha esebenza ngayo. Lokhu kungabangela ukunyakaza okungajwayelekile nokungalawuleki lapho uhamba noma wenza imisebenzi. Lokhu kubizwa ngokuthi i-ataxia .
• Inkulumo engacacile ngenxa yobunzima bokulawula ulimi noma izwi. Lesi simo sibizwa ngokuthi i-dysarthria .
• Izinkinga zokubona: Izinto ezifana ne-strabismus, ukunyakaza kwamehlo okungalawuleki (i-nystagmus), noma i-retinitis pigmentosa, isifo esibangela ukuncipha kokubona ebusuku.
• I-anemia yisimo lapho izinga lamaseli abomvu egazi anempilo emzimbeni lehla khona, okubangela ukukhathala nobuthakathaka.
• Ukuphuzi kwesikhumba noma okumhlophe kwamehlo (i-jaundice).
• Ukuvuvukala, ukuvuvukala.
• Ukulimala kobuchopho ngokuhamba kwesikhathi.

Lesi sifo sikhula kanjani?

I-Abetalipoproteinemia ibangelwa ukuguquka kwezakhi zofuzo ze-MTTP. Izakhi zofuzo ze-MTTP zitshela umzimba wethu ukuthi wenze iphrotheni ebizwa ngokuthi i-microsomal triglyceride transfer protein (MTP). Le phrotheni ye-MTP ibalulekile ekwenzeni ama-lipoprotein ashiwo ngenhla esibindini nasemathunjini ethu.

Imbangela yofuzo

Ungase ukhumbule ukuthi ama-lipoprotein ayadingeka ukuze kuthuthwe amafutha, i-cholesterol, namavithamini ancibilikayo emathunjini ayiswe egazini. Igazi libe selithwala la ma-lipoprotein kuwo wonke umzimba ukuze izicubu zethu zikwazi ukumunca lezi zakhi ezibalulekile.

Ngakho-ke, uma kukhona izinguquko ku-gene ye-'MTTP', umzimba awukwazi ukukhiqiza iphrotheni ye-'MTP'. Uma iphrotheni ye-'MTP' ingekho eyanele, umzimba awukwazi ukuthutha amafutha ngamaseli amathumbu. Lokhu kuthinta okwesibili ukukhiqizwa kwe-'lipoproteins', okuvimbela izakhamzimba ukuthi zithuthwe futhi zimuncwe kahle. Kungenxa yalokhu kuntuleka kokudla okunempilo ukuthi izimpawu ze-'Abetalipoproteinemia' zenzeka.

Indlela efika ngayo kusukela esizukulwaneni kuya kwesinye

I-Abetalipoproteinemia idluliselwa ngemindeni ngendlela ye-autosomal recessive pattern. I-Autosomal recessive isho ukuthi bobabili abazali banekhophi ye-gene eshintshiwe, futhi ingane iyizuza njengefa. Kodwa-ke, labo bazali abanazo izimpawu ze-Abetalipoproteinemia. Lokhu kusho ukuthi bangabathwali besifo kuphela. Ukuze ingane ibe nalesi sifo, bobabili abazali kumele bazuze i-gene enesici.

Kwenziwa kanjani ukuxilongwa?

Udokotela wakho uzohlola i-abetalipoproteinemia ngokwenza ukuhlolwa ngokomzimba. Uzokubuza ngezimpawu zakho kanye nomlando wezokwelapha. Bazophinde bahlele ukuhlolwa kwegazi okuhlukahlukene ukuze babheke izimpawu zalesi simo. Lezi zivivinyo zizobheka amazinga amafutha ku-plasma yakho (esiwabiza ngokuthi amazinga amafutha) kanye nama-lipoprotein. Bazohlola nesimo kanye nesakhiwo samaseli akho abomvu egazi (ukuze babone ukuthi unesifo esibizwa ngokuthi i-acanthocytosis), ukusebenza kwesibindi, kanye namazinga amavithamini ancibilikayo emafutheni (amavithamini A, D, E, kanye no-K).

Ezinye izivivinyo ezingadingeka yilezi:

• Ukuhlolwa kwamehlo.
• Ukuhlolwa kwezinzwa.
• I-Endoscopy (ukuhlolwa okubheka ngaphakathi kwamathumbu).
• Ukuhlolwa kwesibindi nge-ultrasound.
• Ukuhlolwa kwendle, ikakhulukazi ukuze kubonwe ukuthi kudlula amafutha angakanani endle.

Ngaphezu kwalokho, udokotela wakho angase ancome ukuhlolwa kwezakhi zofuzo ukuze abone ukuthi une-mutation yini ku-MTTP gene.

Yiziphi izindlela zokwelapha?

Ukwelashwa kwe-abetalipoproteinemia kugxile ezimpawini zakho ezithile. Ngokuvamile kuzodingeka usebenze nethimba labahlinzeki bezempilo abahlukene. Lokhu kungafaka:

• Odokotela bezinzwa.
• Odokotela abangochwepheshe bezifo zesibindi (odokotela bezifo zesibindi).
• Ochwepheshe bamehlo (odokotela bamehlo).
• Ochwepheshe abafunda ngamafutha (odokotela be-lipid).
• Odokotela benhliziyo.
• Ochwepheshe bamathambo.
• Odokotela bezifo zesisu bangochwepheshe ohlelweni lokugaya ukudla.
• Ochwepheshe bezokudla.

Ukwelashwa kwengane

Kubantwana, udokotela uzoqinisekisa ukukhula nokukhula okuvamile.Kunganconywa ukudla okunama-triglycerides amaningi (ama-MCT) namavithamini athile. Lezi zinhlobo zamafutha, ezibizwa ngokuthi ama-MCT, azifani nezinye izinhlobo zamafutha, futhi kulula ukuthi umzimba umunce.

Ukwelashwa kwabantu abadala

Kubantu abadala, kunconywa uhlelo lokudla oluhlanganisa ukudla okunama-fatty acid agcwele agcwele angaphansi kwe-long chain . Lokhu kufanele kusize ekunciphiseni izimpawu zakho zesisu (ukuphazamiseka kwesisu). Isibonelo:

• Inkukhu, i-turkey, kanye nezinye inyama ezingenamafutha.
• Inhlanzi.
• Ubhontshisi owomile, uphizi, udali.
• Ubisi olungenamafutha noma olunamafutha amancane, ushizi we-cottage, iyogathi.
• Izithelo nemifino.
• Isinkwa esiphelele, i-pasta, okusanhlamvu, kanye nelayisi.

Futhi, udokotela wakho angase ancome ukuthi uthathe imithamo ephezulu yamavithamini ancibilika emafutheni (njengevithamini A, E, D, kanye ne-K) . Lokhu kungasiza ekuvimbeleni noma ekuthuthukiseni izimpawu zakho eziningi. Isibonelo, ukwelashwa ngevithamini E kanye nevithamini A kungavimbela noma kulibazise izinkinga zesimiso sezinzwa kanye ne-retina. Ukuthatha izithasiselo zevithamini D kungasiza ekunciphiseni ezinye izimpawu ezihlobene nokukhula kwamathambo.

Ukwelashwa kwezinkinga zesimiso sezinzwa

Izinkinga zesimiso sezinzwa zingadinga ukwelashwa okufana nokwelashwa ngokomzimba, ukwelashwa ngenkulumo, noma ukwelashwa ngokomsebenzi.

Angakanani amathuba okululama?

Umbono (isibikezelo) sokululama kusuka ku-abetalipoproteinemia uncike ezintweni eziningana, okuhlanganisa:

• Ubudala bokuxilongwa.
• Isikhathi sokuqala ukwelashwa.
• Uhlobo lokuguqulwa kwezakhi zofuzo ze-`MTTP`.

Ukuxilongwa kusenesikhathi kanye nokwelashwa ngezithasiselo zamavithamini kungavimbela, kubambezele, noma kunciphise izinkinga. Kungathuthukisa nobude besikhathi sokuphila. Abanye abantu bangaphila baze babe neminyaka engu-70 ubudala. Uma bengelashwa, lesi simo singadala ukufa lapho sebeneminyaka engu-20 ngenxa yokushoda kokudla okunempilo.

Ingabe lokhu kungavinjelwa?

Ngenxa yokuthi i-abetalipoproteinemia iyisimo sofuzo, awukwazi ukuyivimbela. Uma ukhulelwe noma uhlela ukukhulelwa, kuwumqondo omuhle ukufuna ukwelulekwa ngofuzo ukuze ufunde ngengozi yakho yokudlulisela lesi simo enganeni yakho.

Izinto okungafanele uzidle uma unalesi simo

Uma une-"Abetalipoproteinemia", kufanele unciphise ukudla kwakho kwamafutha (amafutha). Inani lamafutha eliphelele lomuntu omdala kufanele libe ngaphansi kwamagremu angu-15-20 ngosuku. Ezinganeni, kufanele libe ngaphansi kwamagremu ama-5 ngosuku. Udokotela wakho noma isazi sokudla okunempilo uzokutshela ngqo ukuthi wenzeni.

Kufanele ubonane nini nodokotela?

Uma wena noma ingane yakho ninezimpawu ze-"Abetalipoproteinemia," kufanele nibone udokotela. Nakuba izimpawu zalesi simo zingafana nezezinye izifo, udokotela wakho angenza izivivinyo ukuqinisekisa ukuxilongwa nokuqala ukwelashwa.

Imibuzo okufanele uyibuze udokotela wakho

Uma une-abetalipoproteinemia, ungase ube nemibuzo eminingi okufanele uyibuze udokotela wakho. Eminye yayo yile:

• Sibi kangakanani isimo sami se-Abetalipoproteinemia?
• Lesi simo sizongithinta kanjani ngokuhamba kwesikhathi?
• Yiluphi uhlelo lokwelashwa olunconyelwe mina?
• Yimaphi amavithamini kanye nezithako zokudla okufanele ngizithathe, futhi isikhathi esingakanani?
• Ingabe kudingeka ngenze izinguquko ekudleni kwami?
• Yiziphi izinkinga ezingaba khona ze-``Abetalipoproteinemia``?
• Yini engingayenza ukuze ngivimbele lezi zinkinga?
• Ingabe kukhona amaqembu okusekela noma izinsiza ezitholakalayo zokusiza abantu abane-abetalipoproteinemia?

Ekugcineni, khumbula lokhu.

I-Abetalipoproteinemia ingaba yisimo esiyinselele. Kodwa-ke, kubalulekile ukukhumbula ukuthi kunezindlela zokwelapha ezisebenzayo ezitholakalayo. Ngokuphathwa ngokucophelela ngokudla okunamafutha aphansi, izithasiselo zamavithamini, kanye nokwelashwa okuthile, ungathuthukisa kakhulu ikhwalithi yokuphila kwakho futhi uvimbele izinkinga. Abantu abaningi abane-abetalipoproteinemia baphila impilo egcwele futhi ekhiqizayo. Into ebaluleke kakhulu ukusebenzisana eduze nodokotela wakho ukuze wakhe uhlelo lokwelashwa oluhlangabezana nezidingo zakho ezithile. Unganqikazi ukubuza imibuzo nokukhuluma ngokwesaba kwakho endleleni. Awuwedwa, futhi odokotela balapha ukuzokusiza.

I- Abetalipoproteinemia, i-Abetalipoproteinemia, izifo zofuzo, ukumuncwa kwamafutha, ukuntuleka kwamavithamini, ama-lipoprotein, i-MTTP gene, i-Sri Lanka Health