Lo Mqathango oqhelekileyo wenza ukuba kube nzima kwiQumrhu lokuSusa i-Fat
I-Abetalipoproteinemia (eyaziwa nangokuthi i-Bassen-Kornzweig syndrome) yintlupheko ezuze ilifa elichaphazela indlela amafutha asetyenziswa ngayo kwaye asetshenziswe emzimbeni. Imizimba yethu idinga amafutha ukuze kugcinwe imisipha, impilo, kunye nokutya. Njengeoli kunye namanzi, amafutha akakwazi ukuhambahamba emzimbeni wethu ngokwabo. Esikhundleni saloo nto, banamathela kwiiprotheyini ezikhethekileyo ezibizwa ngokuthi i- lipoproteins kwaye zihamba apho zifuneka khona.
Indlela i-Abetalipoproteinemia ithinta ngayo iiPopoproteins
Ngenxa yokuguquka kwemfuzo, abantu abane-abetalipoproteinemia abavelisi iprotheni efunekayo ukwenza ipoproteins. Ngaphandle kweepoprostin ngokwaneleyo, amafutha akakwazi ukugaya kakuhle okanye ahambe apho ayafuneka khona. Oku kukhokelela kwiingxaki zempilo ezinzulu ezinokuchaphazela isisu, igazi, imisipha kunye nezinye iinkqubo zomzimba.
Ngenxa yeengxaki ezibangelwa yi-abetalipoproteinemia, iimpawu zeemeko zivame ukubonakala ebusaneni. Amadoda athatyathwa kakhulu - malunga ne-70% ekhulwini - kunabesifazane. Le meko yimeko yokufumana i-autosomal, oku kuthetha ukuba bobabini abazali bafanele babe ne-MTTP gciwane engafanelekanga ukuba bafumane ilifa. I-Abetalipoproteinemia ayinqabile kakhulu, iimeko ezili-100 kuphela zichazwe.
Iimpawu kunye neMpawu zoMngcipheko
Iintsana ezizalwe nge-abetalipoproteinemia zineengxaki zesisu ngenxa yokungakwazi kwabo ukugaya amafutha ngokufanelekileyo. Ukunyakaza kwamathumbu kaninzi kunqabile kwaye kunokuba kube nebala elimhlophe kunye nelinen epholileyo.
Abantwana abane-abetalipoproteinemia banokufumana ukuhlanza, isifo sohudo, ukubhubhisa, kunye nobunzima bokufumana ubunzima okanye ukukhula (ngamanye amaxesha bayaziwa ngokuba ukungaphumeleli).
Abo bane-imeko nabo baneengxaki ezinxulumene namavithamini agcinwe kumafutha - ii-vithamini A, E, ne-K. Iimpawu ezibangelwa ukungabikho kwamatye kunye namavithamini amanqamle-mveliso ngokuqhelekileyo zikhula kwiminyaka elishumi yokuqala yobomi.
Ezi ziquka:
- Ukuphazamiseka okubonakalayo: Oku kubandakanye iingxaki zokushisa ukuqonda kunye nokuthintela - ngakumbi ezandleni nasezinyaweni (hypesthesia)
- Ukuhamba ngeengxaki (ataxia): Phantse ama-33 ekhulwini kubantwana baya kuba nzima ukuhamba ngelixa bajika iminyaka eyi-10. I-Ataxia iyanda ngakumbi ngexesha.
- Iziphazamiso zentshukumo : Ukugubha, ukugubha (chorea), inkathazo yokufikelela ezintweni (dysmetria), ingxaki yokuthetha (dysarthria)
- Iingxaki zomzimba: Ubuthakathaka, ukunciphisa (ukubetheka) kweemisipha emva okwenza umgudu uphawule (kyphoscoliosis)
- Iingxaki zegazi: I-iron encinci (i- anemia ), iingxaki zokuqhawula, iiseli zegazi ezibomvu ezingaqhelekanga (acanthocytosis)
- Iingxaki zamehlo: Ubumpumputhe bobusuku, ukungaboni kakuhle, iingxaki zokulawula iso (i-ophthalmoplegia), i-cataract
Ukufumana i-Abetalipoproteinemia Diagnosis
I-Abetalipoproteinemia ingabonwa ngeesampuli zesitampu. Ukunyakaza kwamathumbu, xa kuhlolwe, kuya kubonisa izinga eliphezulu leenqatha ukususela ekubeni iinqatha zigqitywa kunokuba zisetyenziswe ngumzimba. Uvavanyo lwegazi lunokukunceda ukuxilonga imeko. Iibomvu zegazi ezibomvu ezingaqhelekanga ezikhoyo kwi-abetalipoproteinemia zingabonwa phantsi kwe-microscope. Kuya kuba namazinga aphantsi kakhulu amafutha afana ne-cholesterol kunye ne-triglycerides egazini.
Ukuba umntwana wakho unesifo se-abetalipoproteinemia, iimvavanyo zokuvala ixesha kunye neenqanaba zesinyithi ziya kubuya kwakhona. Ukuhlolwa kwamehlo kungabonisa ukuvuvukala kwantlungu (retinitis). Ukuvavanywa kwamandla emisipha kunye nokwahlukana kunokuba neziphumo ezingaqhelekanga ngokunjalo.
Ukunyanga Isimo Ngokutya
Ukutya okhethekileyo kubantu abane-abetalipoproteinemia kuye kwaphuhliswa. Kukho imfuno emininzi ekudleni, kubandakanywa ukuphepha ukutya iintlobo ezithile (i-long chain triglycerides) ngokutya ezinye iintlobo (i-triglycerides ephakathi). Enye imfuneko yongeza ixabiso lokuxutywa kwevithamini eziqukethe iivithamini A, E, kunye neK, kunye nentsimbi.
Isondlo sezondlo kunye nemvelaphi yokuphatha izimo zofuzo kunokukunceda ukuba uyile uyilo lokutya eliza kuhlangabezana neemfuno ezizodwa zokutya komntwana wakho.
Imithombo :
Berriot-Varoqueaux, N., Aggerbeck, LP, uSamson-Bouma, M., & Wetterau, JR (2000). Inendima yeprotheni yokudluliselwa kwe-microsomal triglyceride kwi-abetalipoproteinemia. Annu Rev Nutriti, vol. 20, iphe 663-697.
Gregg, RE, Wetterau, JR, Berriot-Varoqueaux, N., Aggerbeck, LP, & Samson-Bouma, M. (1994). I-molecular of abetalipoproteinemia. Curr Opin Lipidol, vol. 5, akukho. 2, iphe 81-86.
Rader, DJ, Brewer, HB, Jr., Gregg, RE, Wetterau, JR, Berriot-Varoqueaux, N., Aggerbeck, LP, uSamson-Bouma, M., & Wetterau, JR (1993). I-Abetalipoproteinemia: Ukuqonda okusha kwi-lipoprotein kunye ne-vitamin E metabolism kwisifo esingaqhelekanga sesifo. JAMA, vol. 270, akukho. 7, iphe 865-869.
I-Stone, NJ, Blum, CB, & Winslow, E. (1998). I-Pathophysiology ye-hyperlipoproteinemas. Ukulawulwa kweeLipids kwiZenzo zoKliniki. Iyatholakala kwi-Intanethi kwiMedscape.
Medline Plus. I-Bassen-Kornzweig syndrome. (2013)