Ukuba nezinga eliphansi le-cholesterol livame ukucatshangwa ukuthi liyinto enhle empilweni. Kodwa i-hypobetalipoproteinemia yomndeni yisimo esingavamile, esizuzwe njengefa esibangela ukuba kube mncane kuya emazingeni aphansi kakhulu e-LDL ama-cholesterol. Ingaveza izimpawu ezingase zidinge ukuphathwa ngokudla okukhethekile kanye nokwengezwa. (Esinye isifo okungenzeka siboniswe ngamazinga aphansi we-HDL yindlala ye-alpha lipoprotein noma isifo seTangier .)
Izinhlobo
Le disorder ngokuvamile kwenzeka ngenxa yokuguqulwa kwamaprotheni, apolipoprotein b (apoB). Le phrotheni inamathele ezinhlayiyeni ze-LDL futhi isiza ukuhamba kwe-cholesterol emaseleni emzimbeni.
Kunezinhlobo ezimbili ze-hypobetalipoproteinemia: homozygous and heterozygous. Abantu abano-homozygous ngalesi simo baye bashintshashintsha kokubili amakhophi wegesi. Izimpawu kulaba bantu zizoba nzima kakhulu futhi zizokwenzeka esikhathini esidlule empilweni, ngokuvamile phakathi neminyaka eyishumi yokuqala yokuphila.
Ngakolunye uhlangothi, abantu ngabanye abaphethwe yi-Heterozygous, banekhophi eyodwa yegesi eguquliwe. Izimpawu zabo zibi kakhulu, futhi ngezinye izikhathi, kungenzeka ukuthi azi ukuthi zinezimo zezokwelapha kuze kube yilapho i-cholesterol yabo ihlolwe ngenkathi ikhulile.
Amazinga aphansi e-cholesterol, ikakhulukazi i-LDL cholesterol, anganciphisa ingozi yesifo senhliziyo. Kodwa-ke, uma i-cholesterol yakho iphansi kakhulu, ingaholela ezinkingeni ezehlukene zezempilo.
Izimpawu
Ubukhulu bezimpawu buzoxhomekeka kunoma yiluphi uhlobo lwe-hypobetalipoproteinemia yomndeni onalo. Abantu abane-hypobetalipoproteinemia yomndeni ongenayo i-homozygous banezibonakaliso ezinzima kakhulu kunezinhlobo ze-heterozygous, ezizofaka phakathi:
- Uhudo
- Ukuvimbela
- Ukuvota
- Ukuba khona kwamafutha, izigqoko ezimibalabala
Ngaphandle kwezimpawu zamathumbu, usana noma ingane ene-homozygous hypobetalipoproteinemia ibonisa ezinye izimpawu zokuba namazinga aphansi kakhulu e-lipids egazini, afana nesimo, i-abetalipoproteinemia. Lezi zimpawu zihlanganisa:
- Izinkinga ze-neurological. Lokhu kungenzeka ngenxa yamanani aphansi we-lipids noma amavithamini amaningi anamafutha ajikeleza emzimbeni. Lezi zimpawu zingase zihlanganise nentuthuko encane, akukho ukucabanga okujulile kwethenda, ubuthakathaka, ukuhamba kanzima nokuzamazama.
- Izinkinga nge-clotting yegazi . Lokhu kungenzeka ngenxa yamazinga aphansi e-vitamin K. Amaseli aphuzi egazi aphinde avele angavamile.
- Ukuntuleka kwe-Vitamin. Amavithamini anamafutha ahlanzekile (A, K, no-E) nawo aphansi kakhulu kulaba bantu ngabanye. I-Lipids ibalulekile ekuthumeni amavithamini amaningi anamafutha ezindaweni ezahlukene zomzimba. Lapho i-lipids, njenge-cholesterol ne- triglycerides , iphansi, ayikwazi ukuhambisa lawa mavithamini lapho edingekayo.
- Izifo ezizwakalayo . Lokhu kuhlanganisa nezindaba zamehlo futhi uthinte ukuzwa.
Abantu abane-hypoteralipoproteinemia ye-heterozygous bangase babe nezimpawu ezincane zomzimba, nakuba abaningi bengenazo izimpawu.
Zombili izinhlobo zalezi zimo ziyoba namazinga aphansi kanye ne-LDL ye-cholesterol.
Ukuxilongwa
Iphaneli epholile izokwenziwa ukuhlola amazinga we-cholesterol ejikeleza egazini.
Ukuhlolwa kwe-cholesterol kuzovamise ukuveza okulandelayo okufundwayo:
Homozygous
- Ingqikithi yamazinga e-cholesterol <80 mg / dL
- Amazinga e-LDL ama-cholesterol <20 mg / dL
- Amazinga aphansi kakhulu e-triglyceride
I-Heterozygous
- Ingqikithi yamazinga e-cholesterol <120 mg / dL
- Amazinga we-LDL ama-cholesterol <80 mg / dL
- Amazinga we-triglyceride ngokuvamile avamile (<150 mg / dL)
Amanothi we-apolipoprotein B angase abe aphansi kuze kube khona ngokuya ngohlobo lwe-hypobetalipoproteinemia okwamanje. I-biopsy yesibindi ingathathwa futhi ukuze inqume ukuthi ngabe isifo sesibindi sinikeza yini amazinga e-lipid aphansi. Lezi zinto, ngaphezu kwezibonakaliso umuntu azizwayo, kuzosiza ukuqinisekisa ukuxilongwa kwe-hypobetalipoproteinemia yomndeni.
Ukwelapha
Ukwelashwa kwe-hypobetalipoproteinemia yomndeni kuxhomeke kuhlobo lwesifo. Kubantu abane-homozygous, i-vitamin supplementation-ikakhulukazi amavithamini A, K, no-E-kubalulekile. I-dietitian ingabuye ixoxwe kulezi zimo ngoba ukudla okukhethekile okwenziwe nge-fat supplementation kungadingeka kusetshenziswe.
Kubantu abathintekayo abanalo uhlobo lwe-heterozygous lwe-hypobetalipoproteinemia, ukwelashwa kungase kungadingeki uma bengenaso izimpawu zesifo. Kodwa-ke, abantu abathile be-heterozygous bangadinga ukufakwa ekudleni okhethekile noma bathole ukwesekwa ngamavithamini anamafutha amaningi uma izimpawu-njengehudo noma ukubhula-zikhona.
Imithombo:
Ubhiya MH, Porter RS, Jones TV. I-Merck Manual of Diagnosis and Therapy. I-19th edition, 2011.
UFauci AC, uKasper DL, uLongo DL et al. Izimiso zikaHarrison zeMithi yangaphakathi. I-18th edition, 2015.