Lesi simo esinezinkinga sikwenza kube nzima ukuthi uMzimba ukhethe amafutha
I-Abetalipoproteinemia (eyaziwa nangokuthi i-Bassen-Kornzweig syndrome) yinkinga ezuzwe njengefa esithinta indlela amafutha akwenziwa ngayo futhi asetshenziswe emzimbeni. Imizimba yethu idinga amafutha ukuze kugcinwe izinzwa ezinempilo, imisipha, nokugaya. Njengamafutha namanzi, amafutha awakwazi ukuhamba azungeze imizimba yethu ngokwawo. Esikhundleni salokho, banamathele kuma-proteine akhethekile okuthiwa i- lipoproteins futhi bahambe lapho beya khona.
Indlela i-Abetalipoproteinemia ithinta ngayo i-Lipoproteins
Ngenxa yokuguquka kwezakhi zofuzo, abantu abane-abetalipoproteinemia abavelisi amaprotheni adingekayo ukwenza amapoproteins. Ngaphandle kwama-lipoprotein anele, amafutha awakwazi ukugaya kahle noma ahambe lapho edingeka khona. Lokhu kuholela ezinkingeni zempilo ezimbi ezingathinta isisu, igazi, imisipha kanye nezinye izinhlelo zomzimba.
Ngenxa yezinkinga ezibangelwa i-abetalipoproteinemia, izimpawu zezimiso zivame ukubonakala ebusheni. Amadoda athinteka kakhulu - cishe amaphesenti angu-70 - kunabesifazane. Lesi simo yisimo sokuthola i-autosomal, okusho ukuthi bobabili abazali kufanele babe ne-gciwane le-MTTP elingalungile lokuba ingane yabo izuze ifa. I-Abetalipoproteinemia ayiyinto engavamile kakhulu, kubikwa amacala angu-100 kuphela.
Izimpawu Nezibonakaliso Ze-Disorder
Izingane ezizalwa nge-abetalipoproteinemia zinezinkinga zesisu ngenxa yokungakwazi ukugaya amafutha kahle. Ukunyakaza kwesisu kuyavame ukungajwayelekile futhi kungase kuvezwe okumibalabala futhi kumnandi.
Izingane ezine-abetalipoproteinemia nazo zingase zizwe ukuhlanza, uhudo, ukubhuqa, nobunzima bokuthola isisindo noma ukukhula (futhi ngezinye izikhathi kuthiwa ukuhluleka ukuphumelela).
Labo abanesimo futhi banenkinga ephathelene namavithamini agcinwe emafutheni - amavithamini A, E, no K. Izimpawu ezibangelwa ukungabi namafutha namavithamini amanama-fatube ngokuvamile zikhula eminyakeni eyishumi yokuqala yokuphila.
Lokhu kungafaka:
- Ukuphazanyiswa okubonakalayo: Lokhu kuhlanganisa nezinkinga zokushisa nokuzwa okuthintekayo - ikakhulukazi ezandleni nasezinyaweni (hypesthesia)
- Ukuhamba ngezinkinga (ataxia): Cishe amaphesenti angu-33 ezingane azoba nobunzima bokuhamba ngesikhathi beba iminyaka engu-10. I-Ataxia ihamba kakhulu ngokuhamba kwesikhathi.
- Izinkinga zokuhamba : Ukuthuka, ukuthuthumela (chorea), ukukhathazeka okufinyelela izinto (i-dysmetria), ukukhathazeka ukukhuluma (i-dysarthria)
- Izinkinga ze-muscle: Ukungabi namandla, ukunciphisa (ukukhwabanisa) kwemisipha ngemuva okubangela ukuba umgogodla uphephe (kyphoscoliosis)
- Izinkinga zegazi: Insimbi encane (i- anemia ), izinkinga zokuqeda, amaseli egazi abomvu angavamile (i-acanthocytosis)
- Izinkinga zamehlo: Ubumpumputhe bobusuku, amehlo angaboni kahle, izinkinga zokulawula iso (i-ophthalmoplegia), i-cataract
Ukuthola i-Abetalipoproteinemia Diagnosis
I-Abetalipoproteinemia ingatholakala ngamasampuli esitokisini. Ukunyakaza kwamathumba, uma kuhlolwe, kuzobonisa izinga eliphezulu lamafutha kusukela amanoni esuswa esikhundleni sokusetshenziswa komzimba. Ukuhlolwa kwegazi kungasiza futhi ukuxilonga lesi simo. Amaseli egazi abomvu angavamile ase-abetalipoproteinemia angabonakala ngaphansi kwe-microscope. Kuzoba namazinga aphansi kakhulu amafutha afana ne-cholesterol ne-triglycerides egazini.
Uma ingane yakho ine-abetalipoproteinemia, izivivinyo zokuvala isikhathi kanye namazinga ensimbi zizobuyela futhi ezingavamile. Ukuhlola iso kungase kubonise ukuvuvukala ngemuva kweso (retinitis). Ukuhlolwa kwamandla emisipha kanye nokuphambana kungase kube nemiphumela engavamile.
Ukwelapha Isimo Ngokudla
Ukudla okuqondile kubantu abane-abetalipoproteinemia lakhiwe. Kunezidingo eziningana ekudleni, kuhlanganise nokugwema ukudla izinhlobo ezithile zamafutha (i-chain triglycerides) eside ngokudla ezinye izinhlobo (triglycerides ephakathi). Esinye isidingo sinezela ama-vitamin Supplement supplements aqukethe amavithamini A, E, no-K, kanye nensimbi.
Isondlo sokudla okunomsoco onesizinda esilandelayo izimo zofuzo kungakusiza ukuba uhlele uhlelo lokudla oluzohlangabezana nezidingo ezikhethekile zokudla kwengane yakho.
Imithombo :
I-Berriot-Varoqueaux, N., Aggerbeck, LP, uSamson-Bouma, M., & Wetterau, JR (2000). Indima yesiprotheni yokudlulisa i-microsomal triglyceride ku-abetalipoproteinemia. U-Annu Rev Nutriti, umv. 20, iphe 663-697.
Gregg, RE, Wetterau, JR, Berriot-Varoqueaux, N., Aggerbeck, LP, & Samson-Bouma, M. (1994). I-molecular of abetalipoproteinemia. Kufakiwe Curr Opin Lipidol, vol. 5, cha. 2, iphe 81-86.
Rader, DJ, Brewer, HB, Jr., Gregg, RE, Wetterau, JR, Berriot-Varoqueaux, N., Aggerbeck, LP, Samson-Bouma, M., & Wetterau, JR (1993). I-Abetalipoproteinemia: Ukuqonda okusha kwi-lipoprotein umhlangano kanye ne-vitamine E emetabolism isifo esisodwa esingavamile. I-JAMA, vol. 270, cha. 7, iphe. 865-869.
Stone, NJ, Blum, CB, & Winslow, E. (1998). I-pathophysiology ye-hyperlipoproteinemias. Ekuphathweni kwe-Lipids ku-Practice Clinical Practice. Itholakala ku-intanethi ku-Medscape.
I-Medline Plus. I-Bassen-Kornzweig syndrome. (2013)