Ukuba neqondo eliphantsi le-cholesterol lidla ukuba liyinto entle kwimpilo. Kodwa i-hypobetalipoproteinemia yentsapho yimeko engabonakaliyo, ezuze ilifa elibangela ukuba kube lula ukuya kwizinga eliphantsi kakhulu le-LDL le-cholesterol. Iyakwazi ukuvelisa iimpawu ezingadinga ukuphathwa ngokutya okukhethekileyo kunye nokuxhaswa. (Esinye isifo mhlawumbi esiboniswe ngamazinga aphantsi kwe-HDL yintsapho ye-alpha yopoprostin engenalo okanye isifo seTangi .)
Iintlobo
Le ngxaki iyenzeka ngenxa yokuguquka kwiprotheni, apolipoprotein b (apoB). Le prothini iqhotyoshelwe kwiincinci ze- LDL kwaye inceda ukuthutha i-cholesterol kwiiseli zomzimba.
Kukho iintlobo ezimbini ze-hypobetalipoproteinemia: homozygous and heterozygous. Abantu abathile be-homozygous kule meko baye baguquka kwiikopi zombini. Izibonakaliso kula bantu ziya kuba nzima kwaye ziya kwenzeka ngaphambili ebomini, ngokuqhelekileyo kwiminyaka yokuqala eyi-10 yobomi.
Abantu be-Heterozygous, ngakolunye uhlangothi, banekhophi enye ye-gene eguqulwe. Izimpawu zabo zibuhlungu, kwaye ngamanye amaxesha, abanokwazi ukuba banalo mqathango wezokwelapha de i-cholesterol yabo ivavanywa xa bekhulile.
Amazinga aphantsi e-cholesterol, ngokukodwa i-LDL cholesterol, anokunciphisa ingozi yesifo senhliziyo. Nangona kunjalo, ukuba i-cholesterol yakho iphantsi, ingakhokelela kwiinkalo ezahlukeneyo zempilo.
Iimpawu
Ubunzima beempawu ziya kuxhomekeka kukuphi uhlobo lwe-hypobetalipoproteinemia yomndeni onalo. Abantu abane-homozygous family hypobetalipoproteinemia baneempawu ezinzima kakhulu kunelo hlobo lwe-heterozygous, oluya kubandakanya:
- Uhudo
- Ukuqhawula
- Ukuvutha
- Ubuninzi bamanqatha, iiglasi ezinemibala
Ngaphandle kweempawu zesisu, umntwana okanye umntwana onobungqina be-hypozygous hypobetalipoproteinemia ubonisa ezinye iimpawu ekubeni namaqondo aphantsi kakhulu kweepidesi egazini, afana nesimo, i-abetalipoproteinemia. Ezi zimpawu ziquka:
- Iingxaki ze-neurological. Oku kungakho ngenxa yezixa eziphantsi zeepidids okanye iivithamini ezinamafutha ezinqamlezayo ezijikelezayo emzimbeni. Ezi zimpawu zingabandakanya ukuphuculwa kancinci, akukho tyikitya ezinzulu zengqondo, ubuthathaka, ukuhamba kanzima, kunye nokuthuthumela.
- Iingxaki nge-clotting yegazi . Oku kungakho ngenxa yamanqanaba aphantsi e-vitamin K. Iiseli zegazi ezibomvu zingabonakala zingavamile.
- Ukunqongophala kwamaVitham. Iivithamini (i-K, i-E ne-E) ziphantsi kakhulu kula bantu. I-Lipids ibalulekile ekuthuthiseni iivithamini ezinomsoco ezinamafutha kwiindawo ezahlukeneyo zomzimba. Xa iip lipids, njenge-cholesterol kunye ne- triglycerides , ziphantsi, azikwazi ukuhambisa ezi vithamini apho zifuneka khona.
- Iziphazamiso ezibonakalayo . Oku kubandakanya imiba ebonakalayo kunye nefuthe lokuthintela.
Abantu abane-heterozygous hypobetalipoproteinemia banokuba nezimpawu ezincinci zesisu, nangona abaninzi abanakho iimpawu.
Zombini iindidi zeemeko ziya kuba namazinga aphantsi kunye ne-LDL ye-cholesterol.
Ukuxilongwa
Iphaneli yepiliti iya kwenziwa ukuze ihlolisise amanqanaba e-cholesterol ejikelezayo egazini.
Uvavanyo lwe-cholesterol luza kubonisa ezi ziphumo zilandelayo:
Homozygous
- Iqondo le-cholesterol lilonke <80 mg / dL
- Izinga le-cholesterol yeLDL <20 mg / dL
- Amanqanaba aphantsi kakhulu e-triglyceride
Heterozygous
- Iqondo lilonke le-cholesterol <120 mg / dL
- Amazinga e-cholesterol ye-LDL <80 mg / dL
- Iinqanaba ze-Triglyceride ziqhelekile (<150 mg / dL)
Amanqanaba e-apolipoprothein B anokuthi aphantsi ukuba angabikho ngokuxhomekeka kuhlobo lwe-hypobetalipoproteinemia ekhoyo. I-biopsy yesibindi ingathathwa kwakhona ukuze kuqinisekiswe ukuba isifo sesibindi sinegalelo kumanqanaba eepidid aphantsi. Ezi zinto, ukongeza kwiimpawu umntu ojongene nazo, kuya kunceda ukuqinisekisa ukuxilongwa kwentsapho ye-hypobetalipoproteinemia.
Unyango
Unyango lwe-hypobetalipoproteinemia yomndeni luxhomekeke kwimeko yesifo. Kubantu abane-homozygous type, i-vitamin supplementation-ingakumbi iivithamini A, K, ne-E-ibalulekile. I-dietitian ingabonisana nakwezinye iimeko ngenxa yokutya okukhethekileyo yokuncedisa amafutha kungadinga ukuphunyezwa.
Kubantu abaxilongwa ngokuba ne-heterozygous uhlobo lwe-hypobetalipoproteinemia, unyango lunokuba lunyanzelwanga ukuba alufumaneki naziphi na izimpawu zesifo. Nangona kunjalo, abantu abathile be-heterozygous bangadinga ukuba bafakwe kwisidlo esikhethekileyo okanye bafumane ukuxhaswa ngamavithamini anelumnyoba enamafutha xa iimpawu-ezifana ne-diarrhea okanye bloating-zikhoyo.
Imithombo:
Beer MH, Porter RS, Jones TV. I-Merck Manual of Diagnosis kunye neyeza. 19th edition, 2011.
UFauci AC, uKasper DL, uLongo DL et al. Iinqununu zeHarrison zeMithi yoPhakathi. I-18th edition, 2015.