Mokhoa ona o tloaelehileng o etsa hore ho be thata ho 'Mele ho Utloa Mafura
Abetalipoproteinemia (eo hape e tsejoang e le Bassen-Kornzweig syndrome) ke lefu le futsitsoeng le amang tsela eo mafura a entsoeng ka eona 'me a sebelisoa' meleng. 'Mele ea rona e hloka mafura e le ho boloka methapo e metle, mesifa le ho senya. Joaloka oli le metsi, mafura ha a khone ho potoloha 'mele ea rona ka boeona. Ho e-na le hoo, li kopanela liprotheine tse khethehileng tse bitsoang lipoproteins ebe li ea hohle moo li hlokahalang.
Kamoo Abetalipoproteinemia e Ama Lipoprotein
Ka lebaka la phetoho ea liphatsa tsa lefutso, batho ba nang le abetalipoproteinemia ha ba hlahise protheine e hlokahalang ho etsa lipoproteins. Ha ho na lipoprotein tse lekaneng, mafura a ke ke a chekoa hantle kapa a ea moo a hlokang teng. Sena se baka mathata a tebileng a bophelo bo ka amang mala, mali, mesifa le mefuta e meng ea 'mele.
Ka lebaka la mathata a bakiloeng ke abetalipoproteinemia, matšoao a maemo a atisa ho bonoa ho tloha boseeng. Banna ba ameha haholo - hoo e ka bang karolo ea 70 lekholong - ho feta basali. Boemo ke boemo bo futsitsoeng ba autosomal, bo bolelang hore batsoali ka bobeli ba tlameha ho ba le liphatsa tsa lefutso tsa MTTP tse fokolang bakeng sa ngoana oa bona ho li rua. Abetalipoproteinemia ke e sa tloaelehang haholo, ke linyeoe tse 100 feela tse tlalehiloeng.
Matšoao le Matšoao a Ts'oaetso
Bana ba tsoetsoeng ka abetalipoproteinemia ba na le mathata a mala ka lebaka la ho se khone ho cheka mafura hantle. Hangata ho tsamaea ha 'mele ho sa tloaelehang' me ho ka 'na ha e-ba le mebala e mebala le e nkhang hampe.
Bana ba nang le abetalipoproteinemia ba ka boela ba hlaphoheloa, letšollo, ho phunya, le ho thatafalloa ho fumana boima kapa ho hōla (hape ka linako tse ling ho tsejoa e le ho hlōleha ho atleha).
Ba nang le boemo bona ba boetse ba na le mathata a amanang le livithamine tse bolokiloeng ka mafura - livithamine A, E, le K. Matšoao a bakoang ke ho haelloa ha mafura le mavithamine a qhibilihang mafura hangata a ntse a tsoela pele ka har'a lilemo tse leshome tsa bophelo.
Tsena li kenyeletsa:
- Khohlano e utloahalang: Sena se akarelletsa mathata a nang le mocheso oa ho utloa le ho ama - haholo-holo matsohong le maotong (hypesthesia)
- Ho tsamaea ka mathata (ataxia): Hoo e ka bang karolo ea 33 lekholong ea bana ba tla ba le bothata ba ho tsamaea ha ba e-ba lilemo tse 10. Ataxia e mpefala ho feta nako.
- Mathata a mokoloto : Litlhoko, ho sisinyeha (chorea), bothata ba ho fumana lintho (dysmetria), bothata ba ho bua (dysarthria)
- Mathata a mesifa: Bofokoli, ho khutsufatsa (ho qhibiliha) ea mesifa ka morao e etsang hore sefate sa mokokotlo se fokotse (kyphoscoliosis)
- Mathata a mali: Tšepe e tlase ( khaello ea mali ), mathata a ho koala, lisele tse khubelu tsa mali (acanthocytosis)
- Mathata a mahlo: Bofofu bosiu, ho se hlokomele mahlo, mathata a ho laola mahlo (ophthalmoplegia), likotsi
Ho Fumana Tlhahlobo ea Abetalipoproteinemia
Abetalipoproteinemia e ka fumanoa ka li-stool samples. Ho tsamaea ha 'mele ha o lekoa, ho tla bontša hore o na le mafura a mangata ho tloha ha mafura a ntse a tlosoa ho e-na le ho sebelisoa ke' mele. Liteko tsa mali li ka boela tsa thusa ho hlahloba boemo boo. Lisele tse khubelu tsa mali tse sa tloaelehang tse teng ka abetalipoproteinemia li ka bonoa tlas'a microscope. Ho tla boela ho be le maemo a tlaase haholo a mafura a kang k'holeseterole le triglycerides maling.
Haeba ngoana oa hau a e-na le abetalipoproteinemia, liteko tsa nako ea ho qeta nako le lisebelisoa tsa tšepe li tla khutla hape. Ho hlahlojoa mahlo ho ka bontša ho ruruha ha leihlo (retinitis). Ho hlahlojoa ha matla a mesifa le ho thibela li-contraction ho ka 'na ha e-ba le liphello tse sa tloaelehang.
Ho phekola boemo ka ho ja lijo
Lijo tse khethehileng bakeng sa batho ba nang le abetalipoproteinemia li thehiloe. Ho na le lintho tse 'maloa tse hlokahalang ho lijo, ho kenyeletsoa ho qoba ho ja mefuta e meng ea mafura (li-triglycerides tse telele) e le ho thabela ho ja mefuta e meng (li-triglycerides tse mahareng). Ntho e 'ngoe e hlokahalang ke ho eketsa tekanyo ea mavithamine a tlatsitseng a nang le livithamine A, E, le K, hammoho le tšepe.
Setsebi sa phepo e nepahetseng se nang le mokokotlo o sebetsanang le liphatsa tsa lefutso li ka u thusa ho etsa moralo oa lijo o tla finyella litlhoko tsa lijo tsa mantlha tsa bana ba hao.
Lisebelisoa :
Berriot-Varoqueaux, N., Aggerbeck, LP, Samson-Bouma, M., & Wetterau, JR (2000). Karolo ea protheine ea phetoho ea microsomal triglyceride ka abetalipoproteinemia. Annu Rev Nutritious, vol. 20, maq. 663-697.
Gregg, RE, Wetterau, JR, Berriot-Varoqueaux, N., Aggerbeck, LP, & Samson-Bouma, M. (1994). Molek'hule ea abetalipoproteinemia. Curr Opin Lipidol, vol. 5, che. 2, maqephe 81-86.
Rader, DJ, Brewer, HB, Jr., Gregg, RE, Wetterau, JR, Berriot-Varoqueaux, N., Aggerbeck, LP, Samson-Bouma, M., & Wetterau, JR (1993). Abetalipoproteinemia: Tlhaloso e ncha ho lipoprotein kopanong le metabolism ea vithamine E ho tloha lefung le sa tloaelehang la liphatsa tsa lefutso. JAMA, vol. 270, che. 7, maq. 865-869.
Lejoe, NJ, Blum, CB, & Winslow, E. (1998). Pathophysiology ea hyperlipoproteinemias. Ka Tsamaiso ea Lipids Litšebeletsong Tsa Bophelo. E fumaneha Inthaneteng ho Medscape.
Medline Plus. Bassen-Kornzweig syndrome. (2013)