Isifo se-Tangier, esaziwa nangokuthi u-alpha lipoprotein, isifo esingavamile, esizuzwe njengefa esiqale sichazwa kwengane eTangier Island, isiqhingi esivela ogwini lwaseVirginia. Abantu abanalesi simo banezinga eliphansi kakhulu le- HDL le- cholesterol ngenxa yokuguqulwa kwesigcawu okuthiwa i-ABCA1. Leli gciwane lisiza ukwenza amaprotheni esiza ukukhipha i-cholesterol eyengeziwe ngaphakathi kweseli.
Uma le phrotheni isebenza kahle, i- cholesterol igxiliwe ngaphandle kweseli futhi ibophezela ku- apolipoprotein A. Lokhu kwakha i-HDL, noma "i-cholesterol" enhle, ezoya esibindi ukuze i-cholesterol isetshenziswe kabusha. Ngaphandle kwala maprotheni, i-cholesterol izohlala ngaphakathi kwamaseli bese iqala ukuqoqa ngaphakathi kwayo.
Izimpawu
Isifo se-Tangier sivame ukuphawula ebuntwaneni. Izimpawu zesifo se-Tangier zingahluka kusukela kunzima kakhulu kuya komnene futhi kuncike ekutheni unayo noma amakhophi amabili wegesi eguquliwe noma cha.
Abantu abano-homozygous ngalesi simo baye bashintsha kokubili amakhophi we-geneca ye-ABCA1 ekhombisa ukuthi iprotheyini futhi ayinayo i-cholesterol ye-HDL ejikeleza egazini. Laba bantu bazoba nezinye izimpawu ngenxa yokuqoqwa kwe-cholesterol ngaphakathi kwamaseli ahlukahlukene emzimbeni, kufaka phakathi:
- Ukungaqondakali kwemvelo, okufaka phakathi kwe-neuropathy ye-peripheral, ukunciphisa amandla, ukulahlekelwa ubuhlungu noma ukuzwa ukushisa, ubuhlungu besisu
- I-Clouding ye-cornea
- Ama-lymph nodes ekhulisiwe
- Izimpawu zesisu, ezifana nesifo sohudo kanye nobuhlungu besisu
- Ukubukeka noma ama-patches aphuzi emanzini emathumbu emathunjini, kuhlanganise ne-rectum
- Amakhuni aphuzi, aphuzi-orange
- Isibindi esandisiwe
- Ipeni ekhulisiwe
- Isifo senhliziyo esandulele
Abantu abahlukaniswa ngokuthi banesifo se-Tacer heterozygous, ngakolunye uhlangothi, banekhophi eyodwa yegesi eguquliwe.
Futhi banesisindo esingaba yingxenye yemali ejwayelekile ye-HDL ejikeleza egazini. Nakuba abantu abano-heterozygous yalesi simo ngokuvamile bezwa izimpawu ezincane kakhulu, bangabe besengozini yokugula ngenxa yesifo senhliziyo ngenxa yengozi yokukhula kwe- atherosclerosis . Ukwengeza, noma ubani otholakala ukuthi unalesi sifo angadlula lesi simo sezokwelapha kuze kufike ezinganeni zabo.
Ukuxilongwa
Iphaneli ye-lipid izokwenziwa ngumhlinzeki wakho wezempilo ukuze uhlole amazinga we-cholesterol ejikeleza egazini lakho. Uma unesifo se-Tangier, lokhu kuvivinywa kuzodalula okutholakele okulandelayo:
- Amazinga we-HDL we-cholesterol angaphansi kuka-5 mg / dL kubantu abathandana nabo
- I-cholesterol ye-HDL ephakathi kuka-5 no-30 mg / dL kubantu abathintekayo be-heterozygous
- Amazinga aphansi we-cholesterol (aphakathi kuka-38 no-112 mg / dL)
- I- triglycerides evamile noma ephakeme (ephakathi kuka-116 no-332 mg / dL)
- Amanothi we-apolipoprotein A angase abuye aphansi kuze kube khona.
Ukuze izifo ze-Tangier zitholwe, umhlinzeki wakho wezempilo uzokuhlola imiphumela yephaneli yakho ye-lipid futhi uzocabangela izimpawu nezimpawu ozizwayo. Uma unomlando womndeni we-Tangier isifo, umhlinzeki wakho wezokunakekelwa kwempilo uzophinde acabangele lokhu.
Ukwelapha
Ngenxa yokungatholakali kwalesi sifo, okwamanje akukho zindlela zokwelapha ezitholakalayo kule nkinga. Imithi ekhuthaza i-HDL ye-cholesterol-kokubili evunyelwe futhi ilingwa-ayibonakali ukwandisa amazinga e-HDL kubantu abane-Tangier. Ukudliwa kokudla okunempilo okungaphansi kwamafutha agcwele kunconywa. Ukwelashwa kungase kudingekile ngokusekelwe ezimpawu ezitholwa yilowo muntu.
Imithombo:
> Malloy MJ, Kane JP. Isahluko 19. Ukuphazamiseka kwe-Lipoprotein Metabolism. Ku: Gardner DG, Shoback D. eds. I-Endocrinology eyisisekelo neyomtholampilo kaGreenspan, 9e . ENew York, NY: McGraw-Hill; 2011.
Pisciotta L, Bocchi L, Candini C, et al. Ukwehluleka okukhulu kwe-HDL ngenxa yeziphambeko zamanoveli ku-ABCA1 transporter. J Intern Med 2009 Mar; 265 (3): 359-72
U-Puntoni M, uFrancesco S, iBigazzi F, iSampietro T. Isifo seTangier: isifo se-epidemiology, i-pathophysiology, kanye nokuphathwa. Am J Cardiovasc Izidakamizwa 2012: 12: 303-311
I-Schaefer EJ, i-Santos RD. Isahluko 135. I-Xanthomatoses ne-Lipoprotein Disorders. Ku: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. Dermatology ka-Fitzpatrick ku-General Medicine, 8e . ENew York, NY: McGraw-Hill; 2012