Kuki umubiri wawe udashobora kwinjiza amavuta na vitamine? (Abetalipoproteinemia)

Ese wigeze wibaza ibibazo bishobora kuvuka mu gihe umubiri udashobora kwinjiza intungamubiri ukeneye mu biribwa turya, cyane cyane ibinure na vitamine zimwe na zimwe? Uyu munsi tugiye kuvuga ku kibazo kimwe kidasanzwe ariko gikomeye cyane mu bijyanye n'uturemangingo. Ikibaho ni uko umubiri wacu udashobora kwinjiza ibinure na vitamine zishonga neza. Reka turebere hamwe iki kibazo, impamvu kibaho, n'icyakorwa kuri cyo.

Abetalipoproteinemia ni iki?

Muri make, abetalipoproteinemia ni indwara idakunze kugaragara mu buryo bw’uturemangingo. Ni indwara ituma umubiri wawe udashobora kwinjiza neza ibinure (amavuta) na vitamine zimwe na zimwe mu biribwa urya. Ibi biterwa n’uko umubiri wawe udashobora gukora molekile zidasanzwe zitwa lipoproteins zitwara ibinure, cholesterol, na vitamine zishonga mu mavuta (nka vitamine A, D, E, na K) mu mubiri wawe wose.

Tekereza muri ubu buryo, izi 'lipoproteins' ni nk'imodoka zitwara intungamubiri mu mibiri yacu. Rero iyo izi modoka zishize, ibinure na vitamine ntibijya aho bigomba kujya mu mubiri. Ibi bituma ibinure na vitamine bibura, cyane cyane vitamine A, D, E, na K. Uku kubura bishobora guteza ibibazo bitandukanye by'ubuzima.

Ni iki koko kirimo kuba muri iki gihe?

Tekereza kuri ubu buryo: iyo urya ibiryo, ibinure na vitamine zishongesha ibinure birimo bigomba kwinjizwa mu mara bijya mu maraso. Icyo gihe ni bwo bishobora kwinjizwa mu maraso bigatwarwa mu mubiri wose no mu turemangingo. Ibi byoroherwa na lipoproteine ​​zavuzwe haruguru. Ku muntu ufite abetalipoproteinemia, izi lipoproteine ​​ntizikorwa neza, bityo ibinure na vitamine ntibishobora kunyura mu mara.

Ibibazo by'ingenzi byatewe n'ibi

Iyo izi 'lipoproteins' zibuze, hashobora kubaho ibibazo byinshi by'ingenzi:

• Kubura ibinure: Ibi bishobora gutera indwara nko gucibwamo, bishobora gutera kubyimba, kugabanya ibiro no kubura imirire myiza.
• Kubura Vitamine: Ibi bishobora gutera ibibazo bitandukanye. Bishobora kuba ibibazo byo kutabona neza, ibibazo by'imitsi, ndetse n'intege nke z'imitsi.
• Akantositosi: Iri ni ijambo rigoye cyane, si byo se? Mu magambo make, uturemangingo tw'amaraso dutukura dufite imiterere itandukanye, nk'inyenyeri ifite amahwa, cyangwa ikindi kintu nk'icyo. Ibi byitwa "Akantositosi." Ibi bishobora gutera amaraso make. Ibi bivuze ko umubiri udafite uturemangingo tw'amaraso dutukura tuzima bihagije.

Abetalipoproteinemia ni indwara ikomeye ishobora gutera ibibazo bikomeye ku buzima.Ubu nta muti uraboneka. Ariko, iyo habayeho kuvurwa neza , ibimenyetso bishobora kugenzurwa kandi ingorane zishobora kwirindwa. Ubusanzwe ubuvuzi bukubiyemo indyo nkeya, inyunganiramirire ya vitamine, n'ubundi buryo butandukanye bwo kuvura bugamije ibimenyetso byihariye.

Ibimenyetso bimeze bite?

Ibimenyetso bya `Abetalipoproteinemia` bikunze gutangira akiri umwana muto. Nyuma yo konsa, umwana wawe ashobora kuruka, impiswi, ndetse n'amase afite ibinure, impumuro mbi (steatorrhea) (ibi tubyita "steatorrhea," bivuze ko amase y'umwana wawe aba afite ububobere, amavuta, rimwe na rimwe areremba, kandi afite impumuro mbi gato). Nyuma y'igihe runaka, ushobora kubona ko umwana wawe atarimo kwiyongera ibiro cyangwa gukura nk'uko byari byitezwe. Ibi tubyita gukura nabi .

Ku bantu bakuru, ibura rya vitamini (abetalipoproteinemia), rigira ingaruka ku mikorere y'umubiri itandukanye. Ikimenyetso cya mbere gishobora kuba ukubura uburyo bwo gutekereza. Ibindi bimenyetso bishobora kuba:

• Kunyeganyega kw'imitsi, intege nke, n'ububabare.
• Umunaniro, guhumeka nabi, cyangwa umutima utera cyane.
• Kwiyongera k'ubugari bw'umugongo wawe wo hasi (lordosis) cyangwa kwiyongera k'ubugari bw'umugongo wawe wo hejuru (kyphoscoliosis). Izi ni impinduka mu miterere y'umugongo wawe.
• Kugorwa no guhuza imitsi. Ibi bishobora gutera ingendo zidasanzwe kandi zidagenzurwa mu gihe ugenda cyangwa ukora imirimo. Ibi byitwa ataxia .
• Kutavuga neza bitewe no kugorwa no kugenzura ururimi cyangwa ijwi. Iyi ndwara yitwa dysarthria .
• Ibibazo byo kureba: Ibintu nka strabismus, ingendo z'amaso zitagenzurwa (nystagmus), cyangwa retinitis pigmentosa, indwara itera kubura ubushobozi bwo kureba nijoro.
• Anemia ni indwara aho urugero rw'uturemangingo dutukura tw'amaraso tuzima mu mubiri rugabanuka, bigatera umunaniro n'intege nke.
• Ibara ry'umuhondo ku ruhu cyangwa umweru w'amaso (jaundice).
• Kubyimba, kubyimba.
• Kwangirika k'ubwonko uko igihe kigenda gihita.

Iyi ndwara ikura ite?

Abetalipoproteinemia iterwa n'impinduka mu ngirabuzimafatizo ya MTTP. Ingirabuzimafatizo ya MTTP ibwira umubiri wacu gukora poroteyine yitwa microsomal triglyceride transfer protein (MTP). Iyi poroteyine ya MTP ni ingenzi mu gukora lipoprotein zavuzwe haruguru mu mwijima no mu mara yacu.

Impamvu y'uturemangingo

Ushobora kwibuka ko lipoprotein zikenewe kugira ngo zijyane ibinure, kolesteroli, na vitamine zishongesha ibinure ziva mu mara zijya mu maraso. Hanyuma amaraso ajyana izo lipoprotein mu mubiri wose kugira ngo ingingo zacu zibashe kwinjiza izo ntungamubiri z'ingenzi.

Rero, iyo habayeho impinduka muri gene ya `MTTP`, umubiri ntushobora gukora poroteyine ya `MTP`. Iyo poroteyine ya `MTP` idafite ihagije, umubiri ntushobora gutwara ibinure binyuze mu tunyangingo tw'amara. Ibi bigira ingaruka ku ikorwa rya `lipoproteins`, ibi bikabuza intungamubiri gutwara no kwinjira neza. Ni ukubera ubwo busembwa bw'imirire butuma ibimenyetso bya `Abetalipoproteinemia` bibaho.

Uko biza kuva ku gisekuru kugera ku kindi

Abetalipoproteinemia yanduzwa mu miryango mu buryo bwa autosomal recessive. Autosomal recessive bivuze ko ababyeyi bombi bafite kopi ya gene yahindutse, kandi umwana akaba ari we uyiragwa. Ariko, abo babyeyi ntibafite ibimenyetso bya Abetalipoproteinemia. Ibi bivuze ko ari bo batwara gusa iyo ndwara. Kugira ngo umwana agire iyo ndwara, ababyeyi bombi bagomba kuragwa gene ifite inenge.

Isuzuma rikorwa rite?

Muganga wawe azasuzuma indwara ya abetalipoproteinemia agukoreye isuzuma ry’umubiri. Azakubaza ibimenyetso byawe n’amateka y’ubuzima bwawe. Azagutegeka kandi gupima amaraso atandukanye kugira ngo arebe ibimenyetso by’iyo ndwara. Ibi bizamini bizareba urwego rw’ibinure mu maraso yawe (ibyo twita urwego rw’ibinure) na lipoprotein. Azasuzuma kandi imiterere n’imiterere y’uturemangingo tw’amaraso yawe (kugira ngo barebe niba ufite indwara yitwa acanthocytosis), imikorere y’umwijima, n’urugero rwa vitamine zishongesha ibinure (vitamine A, D, E, na K).

Ibindi bizamini bishobora gukenerwa ni ibi bikurikira:

• Isuzuma ry'amaso.
• Ikizamini cy'imitsi.
• Endoskopi (isuzuma rireba imbere mu mara).
• Gupima umwijima hakoreshejwe ultrasound.
• Ikizamini cy'imyanya, cyane cyane kugira ngo harebwe ingano y'ibinure biva mu myanda.

Byongeye kandi, muganga wawe ashobora kukugira inama yo gupima imiterere y’uturemangingo kugira ngo arebe niba ufite impinduka muri gene ya MTTP.

Ni ubuhe buryo bwo kuvura?

Ubuvuzi bwa abetalipoproteinemia bwibanda ku bimenyetso byawe byihariye. Akenshi uzakenera gukorana n'itsinda ry'abatanga serivisi z'ubuvuzi batandukanye. Ibi bishobora kuba birimo:

• Abaganga b'indwara z'imitsi.
• Abaganga b'inzobere mu ndwara z'umwijima (abaganga b'indwara z'umwijima).
• Inzobere mu by'amaso (abaganga b'amaso).
• Inzobere ziga ibinure (abahanga mu by'imirire y'ibinure).
• Abaganga b'indwara z'umutima.
• Inzobere mu by'amagufwa.
• Abaganga b'indwara zo mu gifu ni inzobere mu bijyanye n'igogora.
• Abahanga mu mirire.

Kuvura umwana

Ku bana bato, muganga azabafasha gukura no gukura neza.Indyo irimo triglycerides nyinshi (MCTs) na vitamine byihariye ishobora kuba isabwa. Ubwo bwoko bw'ibinure, bwitwa MCTs, ntabwo bumeze nk'ubundi bwoko bw'ibinure, kandi byoroshye ko umubiri ubasha kubyinjiza.

Ubuvuzi ku bantu bakuru

Ku bantu bakuru, gahunda y'imirire ivura irimo ibiryo bike birimo aside irike yuzuye mu ruhererekane rurerure irasabwa. Ibi byagakwiye kugufasha kugabanya ibimenyetso by'igifu cyawe (kubabara mu nda). Urugero:

• Inkoko, inyama y'inkoko, n'izindi nyama zitarimo amavuta menshi.
• Ifi.
• Ibishyimbo byumye, amashaza, lentile.
• Amata adafite ibinure cyangwa amata make, foromaje y'akazutu, yawurute.
• Imbuto n'imboga.
• Umugati wuzuye w'ibinyampeke, makaroni, ibinyampeke, n'umuceri.

Nanone, muganga wawe ashobora kukugira inama yo gufata vitamine nyinshi zishobora gushonga mu mavuta (nka vitamine A, E, D, na K) . Ibi bishobora gufasha gukumira cyangwa kunoza ibimenyetso byinshi. Urugero, imiti ya vitamine E na vitamine A ishobora gukumira cyangwa gutinza ingorane z’imitsi n’iz’amaso. Gufata inyongeramusaruro za vitamine D bishobora gufasha kugabanya ibimenyetso bimwe na bimwe bijyanye no gukura kw'amagufwa.

Kuvura ibibazo by'imitsi

Ingorane z'imitsi zishobora gusaba ubuvuzi nko kuvura umubiri, kuvura indwara zo mu mutwe, cyangwa kuvura indwara z'akazi.

Ni ayahe mahirwe yo gukira?

Icyerekezo (ibipimo) cyo gukira indwara ya abetalipoproteinemia giterwa n'ibintu byinshi, birimo:

• Imyaka yo gusuzuma indwara.
• Igihe cyo gutangira kuvurwa.
• Ubwoko bw'impinduka mu ngirabuzimafatizo za `MTTP`.

Gusuzuma no kuvurwa hakiri kare hakoreshejwe inyongeramusaruro za vitamine bishobora gukumira, gutinza cyangwa kugabanya ingorane. Bishobora kandi kongera igihe cyo kubaho. Hari abantu bashobora kubaho kugeza ku myaka 70. Iyo bitavuwe, iyi ndwara ishobora gutera urupfu mu myaka 20 bitewe n'ibura ry'indyo.

Ese ibi bishobora kwirindwa?

Kubera ko abetalipoproteinemia ari indwara iterwa n’uturemangingo, ntushobora kuyirinda. Niba utwite cyangwa uteganya gutwita, ni byiza gushaka inama ku bijyanye n’uturemangingo kugira ngo umenye ibyago byo kwanduza umwana wawe iyi ndwara.

Ibintu utagomba kurya ufite iyi ndwara

Niba ufite ``Abetalipoproteinemia``, ugomba kugabanya ibinure (amavuta) urya. Ibinure byose umuntu mukuru agomba kurya bigomba kuba munsi ya garama 15-20 ku munsi. Ku bana, bigomba kuba munsi ya garama 5 ku munsi. Muganga wawe cyangwa inzobere mu mirire azakubwira icyo wakora neza.

Ni ryari ukwiye kujya kwa muganga?

Niba wowe cyangwa umwana wawe mufite ibimenyetso bya "Abetalipoproteinemia," mugomba kujya kwa muganga. Nubwo ibimenyetso by'iyi ndwara bishobora gusa n'iby'izindi ndwara, muganga wawe ashobora gukora ibizamini kugira ngo yemeze ko arwaye indwara kandi atangire kuyivura.

Ibibazo byo kubaza muganga wawe

Niba ufite ikibazo cya abetalipoproteinemia, ushobora kuba ufite ibibazo byinshi ugomba kubaza muganga wawe. Bimwe muri byo ni ibi bikurikira:

• Indwara yanjye ya Abetalipoproteinemia ikabije gute?
• Ni gute iki kibazo kizagira ingaruka ku buzima bwanjye mu gihe kirekire?
• Ni iyihe gahunda yo kuvura isabwa kuri njye?
• Ni izihe vitamine n'inyongeramusaruro byihariye ngomba gufata, kandi igihe kingana iki?
• Ese ngomba guhindura indyo yanjye?
• Ni izihe ngorane zishobora guterwa na ``Abetalipoproteinemia``?
• Nakora iki kugira ngo ngire izi ngorane?
• Ese hari amatsinda y'ubufasha cyangwa ibikoresho bihari byo gufasha abantu bafite indwara ya abetalipoproteinemia?

Amaherezo, ibuka ibi.

Abetalipoproteinemia ishobora kuba ikibazo kigoye. Ariko, ni ngombwa kwibuka ko hari uburyo bwiza bwo kuvura. Iyo ukoresheje neza indyo irimo ibinure bike, inyunganiramirire za vitamine, n'ubundi buryo bwo kuvura, ushobora kunoza ubuzima bwawe cyane no kwirinda ingorane. Abantu benshi bafite abetalipoproteinemia babaho ubuzima bwuzuye kandi butanga umusaruro. Ikintu cy'ingenzi ni ugukorana bya hafi na muganga wawe kugira ngo bategure gahunda y'ubuvuzi ijyanye n'ibyo ukeneye byihariye. Ntutindiganye kubaza ibibazo no kuvuga ku bwoba bwawe mu nzira. Ntabwo uri wenyine, kandi abaganga bari hano kugufasha.

Abetalipoproteinemia , Abetalipoproteinemia, indwara z'uturemangingo, kwinjizwa kw'ibinure, kubura vitamine, lipoproteine, gene ya MTTP, Ubuzima bwa Sri Lanka