Chirwere cheTangi, chinonziwo familial alpha lipoprotein kushayikwa, ndechimwe chisingawanzoiti, chakagara nhaka yakatanga kurondedzerwa mumwana muTangier Island, chiri chitsuwa chiri kumhenderekedzo yeVirginia. Vanhu vane chirwere ichi vane uwandu hwakanyanya hweHDL cholesterol pamusana pekuchinja kwegene rinonzi ABCA1. Iyi geni inobatsira kuita puroteni inobatsira kubvisa cholesterol yakawandisa kubva mukati memusero.
Apo puroteni iyi iri kushanda zvakanaka, cholesterol inobviswa kunze kwekamuri uye inosunga kune apolipoprotein A. Izvi zvinoumba HDL, kana kuti "yakanaka" cholesterol, iyo ichaenda kuchiropa kuti cholesterol ishandiswezve. Pasina puroteni iyi, cholesterol ichagara mukati memasero uye inotanga kuunganidza mukati mavo.
Zviratidzo
Tangier chirwere chinowanzoonekwa muhuduku. Zviratidzo zveTangier zvirwere zvinogona kubva pane zvakaoma kusvika kune zvinyoro uye zvinoenderana kana iwe usina kana imwe kopi yemafuta akachinjwa.
Vanhu vane homozygous nokuda kwechiitiko ichi vakachinja mumakopi maviri eAQCA1 geni iyo inoratidzira mapuroteni uye haina chero HDL cholesterol iri kubuda muropa. Vanhu ava vachavewo nezvimwe zviratidzo semugumisiro wekushongedzwa kweklesterolori mumasero akasiyana-siyana mumuviri, kusanganisira:
- Neurological kusagadzikana, iyo inosanganisira chirwere chepuropa neuropathy, yakaderera simba, kurasikirwa nemarwadzo kana kupisa kwekunzwa, kurwadziwa kwemisungo
- Clouding of the cornea
- Yakakura lymph nodes
- Zviratidzo zvepachiviri, zviratidzo zvakadai sekurwara uye kurwadziwa mumimba
- Kuonekwa kana mashizha emucheka pamatumbo mumcosa, kusanganisira rectum
- Yakakurumbira, yero-orange-tonsils
- Akawedzera chiropa
- Yakakura spleen
- Premature cardiovascular disease
Vanhu vanorondedzerwa sevana heterozygous Tangier chirwere, kune rumwe rutivi, chete ine kopi imwechete ye mutered gene.
Ivewo ine inenge hafu yenguva yakawanda yeHDL inotenderera muropa. Kunyange zvazvo vanhu vane heterozygous nokuda kwechiitiko ichi kazhinji vanowanzova nemoyo munyoro kusina zviratidzo, ivo vari pangozi yekusangana nemaperembudzi musati vasvika nekuda kwehuwandu hwehutachiona hwehutachiona hweHatrosclerosis . Uyezve, ani naani anoonekwa ane chirwere ichi angapfuura chirwere ichi chechirwere pamwe chete nevana vavo.
Kuziva
Ipepa rinoputika richaitwa nemupiki wako wehutano kuitira kuti uongorore mazinga echolesterol ari kubuda muropa rako. Kana iwe uine chirwere cheTangi, iyi miedzo yaizobudisa zvinotevera:
- HDL yeCholesterol iri pasi pe 5 mg / dL muvanhu vane homozygous
- HDL cholesterol pakati pe5 uye 30 mg / dL muvanhu vane heterozygous
- Low low cholesterol levels (ranging between 38 and 112 mg / dL)
- Kazhinji kana yakakwirira triglycerides (iri pakati pe 116 ne332 mg / dL)
- Nhamba dze apolipoprotein A inogonawo kuva yakaderera kusvika kusipo.
Kuti zvirwere zveTangier zviongororwe, mushandi wehutano wehutano achaongorora mhinduro dzeplanethi yako yepilidhi uye achaongorora zvakare zviratidzo nezviratidzo zvauri kuona. Kana iwe uine mhuri yekare yeTangier chirwere, mupi wako wehutano wehutano achaitawo izvi.
Kurapa
Nemhaka yekushayikwa kwechirwere ichi, pane ikozvino hapana mishonga inowanikwa mune izvi. Mishonga inokurudzira HDL cholesterol-zvose zvinogamuchirwa uye kuongororwa-hazviti kuwedzera huwandu hweHDL kuvanhu vane Tangier zvirwere. Kuteerera kudya kwakanaka kwakaderera mumafuta akazara kunorudzirwa. Kuvhiya kungave kwakakosha kubva pane zviratidzo zvinowanikwa nomunhu wacho.
Sources:
> Malloy MJ, Kane JP. Chitsauko 19. Zvinetso zvePopoprotein Metabolism. Mu: Gardner DG, Shoback D. eds. Greenspan's Basic & Clinical Endocrinology, 9e . New York, NY: McGraw-Hill; 2011.
Pisciotta L, Bocchi L, Candini C, et al. Dambudziko reHCDL rakakosha nekuda kwekukanganisa kwenhau muAACCA1 mutakuri. J Intern Med 2009 Mar; 265 (3): 359-72
Puntoni M, Francesco S, Bigazzi F, Sampietro T. Tangier chirwere: epidemiology, pathophysiology, uye management. Am J Cardiovasc Zvinodhaka 2012: 12: 303-311
Schaefer EJ, Santos RD. Chitsauko 135. Xanthomatoses uye Lipoprotein Matambudziko. Mu: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. Fermpatrick's Dermatology in General Medicine, 8e . New York, NY: McGraw-Hill; 2012