Isifo seTangi, esaziwa njenge-alpha alpha lipoprotein, iimeko ezingabonakaliyo, ezizuzelelekileyo ezichazwe kumntwana kwiSiqithi saseTangier, isiqithi esasogwini lwaseVirginia. Abantu abanalo meko banamaqondo aphantsi kakhulu e- HDL ye- cholesterol ngenxa yokuguqulwa komzimba kwi-ABCA1. Le jeni inceda ukwenza iprotheni enceda ukulahla i-cholesterol engaphezulu kwiseli.
Xa le prothini isebenza ngokufanelekileyo, i- cholesterol igxothwa ngaphandle kweseli kwaye ibophezela ku- apolipoprotein A. Le ndlela i-HDL, okanye i-cholesterol "enhle", eya ku-isibindi ukuze i-cholesterol isetyenziswe kwakhona. Ngaphandle kweprotheni, i-cholesterol iya kuhlala ngaphakathi kweeseli kwaye iqala ukuqokelela ngaphakathi kwayo.
Iimpawu
Isifo seTangi sivame ukubonwa ebuntwaneni. Iimpawu zesifo seTangi ziyakwazi ukususela kwizinto ezinzima kunokuba zibucace kwaye zixhomekeka nokuba ngaba unayo okanye iikopi ezimbini ze-genetic mutation.
Abantu abane-homozygous kule meko baye baguquka kwiikopi zombini ze-ABCA1 ezibonisa iiprotheyini kwaye azikho i-cholesterol ye-HDL ejikelezayo egazini. Laba bantu baya kuba nezinye iimpawu ngenxa yokuqokelela kwe-cholesterol phakathi kweeseli ezahlukeneyo emzimbeni, kubandakanya:
- Ukungaqhelekanga kwemvelo, okubandakanya i-peripheral neuropathy, ukunciphisa amandla, ukulahleka kwentlungu okanye ukuvakalelwa kwintsholongwane, iintlungu zomzimba
- I-Clouding ye-cornea
- I-lymph nodes ekhulisiweyo
- Iimpawu zesisu, ezifana nesifo sohudo kunye nentlungu esiswini
- Ukubonakala okanye i-yellow patches kwi-mucosa yamathumbu, kuquka i-rectum
- Ukwandiswa, iitoni ze-yellow-orange
- Ukwanda kwebindi
- Ipeni ekhulisiweyo
- Izifo zesifo sengqondo esasimandulo
Abantu abahlelwa njenge-heterozygous Tanger disease, ngakolunye uhlangothi, kuphela nekopi enye ye-genetic mutation.
Kananjalo banesiqingatha sesixa-mali esiqhelekileyo se-HDL ejikelezayo egazini. Nangona abantu abane-heterozygous kule meko bahlala benomdla kakhulu kunokuba bangabikho mpawu, basengozini yokugula ngenxa yesifo senhliziyo ngenxa yengozi yokwanda kwe- atherosclerosis . Ukongeza, nabani na ofunyaniswayo kwesi sifo banokudlula le meko yonyango kunye nabantwana babo.
Ukuxilongwa
Iphaneli yepiliti iya kwenziwa ngumboneleli wakho wezempilo ukuze uhlolisise amanqanaba e-cholesterol ejikelezayo egazini lakho. Ukuba unesifo seTangi, olu vavanyo luza kubonisa ezi ziphumo zilandelayo:
- Ii-cholesterol ze-HDL ezingaphantsi kwama-5 mg / dL kubantu abathandanayo
- I-cholesterol ye-HDL ephakathi kwe-5 no-30 mg / dL kubantu ngabanye abanama-heterozygous
- Amanqanaba e-cholesterol ephantsi (aphakathi ko-38 no-112 mg / dL)
- Eziqhelekileyo okanye eziphakamileyo ze- triglycerides (eziphakathi kwe-116 no-332 mg / dL)
- Amanqanaba eapolipoprotein A ingaba yinto ephantsi ukuba ayikho.
Ukuze izifo zeTangi zifumaneke, umboneleli wakho wezempilo uya kuhlola iimpembelelo zeplanethi yakho kwaye uya kuqwalasela iimpawu kunye neempawu ozifumanayo. Ukuba unomdla weentsapho zeTangi, isibonelelo sakho sezempilo siya kuthatha le ngqalelo.
Unyango
Ngenxa yokungabikho kwesi sifo, ngoku akukho zonyango ezikhoyo kule mqathango. Amachiza anokukhuthaza i-HDL ye-cholesterol-zombini evunyiweyo kunye novavanyo-ayibonakali ukunyusa amazinga e-HDL kubantu abaneTager. Ukulandela ukutya okunempilo okuphantsi kweoli egcweleyo kunconywa. Utyando luya kufuneka lu sekelwe kwiimpawu ezibangelwa ngumntu ngamnye.
Imithombo:
> Malloy MJ, Kane JP. Isahluko 19. Iingxaki zePopoprotein Metabolism. Ku: Gardner DG, Shoback D. eds. I-Endocrinology ye-Greenspan ye-Greenspan, i-9e . New York, NY: McGraw-Hill; 2011.
Pisciotta L, Bocchi L, Candini C, et al. Ukulahleka kwe-HDL enobungozi ngenxa yeziphene zeveli kumthengisi we-ABCA1. J Intern Med 2009 Mar; 265 (3): 359-72
U-Puntoni M, uFrancesco S, iBigazzi F, iSampietro T. Isifo seTangi: i-epidemiology, i-pathophysiology kunye nokulawula. Ngaba uJ Cardiovasc Iziyobisi 2012: 12: 303-311
Schaefer EJ, Santos RD. Isahluko 135. I-Xanthomatoses kunye ne-Lipoprotein Disorders. Ku: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. I-Ditzatrick's Dermatology kwi-General Medicine, 8e . New York, NY: McGraw-Hill; 2012