Tangier cuta, wanda aka fi sani da iyali alpha lipoprotein rashi, yana da musamman rare, yanayin gado da aka farko aka bayyana a cikin wani yaro a tsibirin Tangier, wani tsibirin located a gefen tekun na Virginia. Mutanen da suke da wannan yanayin suna da nauyin ƙananan zazzabi na HDL sakamakon maye gurbin a cikin wani nau'i mai suna ABCA1. Wannan jinsin yana taimakawa wajen samar da sinadaran da ke taimakawa wajen kawar da hawan cholesterol daga cikin tantanin halitta.
Lokacin da wannan furotin ke aiki yadda ya kamata, ana rufe sallesterol a waje da tantanin halitta kuma yana daura zuwa apolipoprotein A. Wannan shine HDL, ko "mai kyau" cholesterol, wanda zai yi tafiya zuwa hanta don a iya sake amfani da cholesterol. Idan ba tare da wannan furotin ba, cholesterol zai kasance cikin cikin kwayoyin kuma zai fara tarawa a cikinsu.
Cutar cututtuka
Yawancin lokuta ana iya lura da cutar ta Tangier a lokacin yaro. Kwayoyin cututtuka na cutar Tangier na iya zamawa mai tsanani sosai sosai kuma ya dogara ne akan ko kana da daya ko biyu kofe na mahaifa.
Mutanen da suke homozygous a wannan yanayin suna da maye gurbin a cikin duka kwafin ABCA1 da ke ƙayyade ga sunadarai kuma basu da kusan wani cholesterol na HDL wanda ke cikin jini. Wadannan mutane kuma suna da wasu cututtuka saboda sakamakon ƙwayar cholesterol a cikin wasu kwayoyin halitta, ciki har da:
- Abunanan abubuwan da ba su da mawuyacin hali, wanda ya haɗa da neuropathy na jiki, rage ƙarfin, hasara na zafi ko zafi mai zafi, zafi tsoka
- Girgiro daga cikin abincin
- Ƙididdigar lymph
- Gastrointestinal alama, irin su zawo da zafi na ciki
- Hotuna ko launin rawaya a kan mucosa na ciki, ciki har da dubun
- Girma, rawaya-orange tonsils
- Ƙãra hanta
- Girma mai girma
- Kwayar cutar na jijiya
Mutanen da aka zaba suna da ciwon heterozygous Tangier cuta, a gefe guda, kawai suna da kofi guda daya.
Har ila yau, suna da kusan rabin adadi na HDL wanda ke cikin jini. Kodayake mutanen da suke heterozygous a wannan yanayin sukan saba sosai sosai ba tare da wata alamar bayyanar cututtuka ba, kuma suna cikin haɗari ga cututtukan zuciya marasa ciwon zuciya saboda ƙari na haɓaka ƙirar atherosclerosis . Bugu da ƙari, duk wanda aka gano da wannan cuta zai iya wuce wannan yanayin likita tare da 'ya'yansu.
Sanin asali
Za'a yi wani launi na lipid da mai bada sabis na kiwon lafiya don nazarin matakan cholesterol wanda ke cikin jini. Idan kana da cutar Tangier, wannan gwaji zai bayyana abubuwan da ke faruwa:
- HDL cholesterol matakin kasa da 5 MG / dL a homozygous mutane
- HDL cholesterol tsakanin 5 da 30 MG / dL a cikin mutane heterozygous
- Ƙananan matakan cholesterol (jere tsakanin 38 da 112 MG / DL)
- Na al'ada ko haɗaka triglycerides (jere tsakanin 116 da 332 MG / dL)
- Matsayi na apolipoprotein A kuma iya zama maras kyau ga babu.
Domin a iya gano cutar ta Tangier, mai ba da sabis na kiwon lafiya zai duba sakamakon sakamakon labarun ku kuma zaiyi la'akari da alamu da bayyanar da kuke fuskanta. Idan kana da tarihin gidan tarihin cutar Tangier, mai ba da sabis na kiwon lafiya zai dauki wannan asusun.
Jiyya
Saboda damuwa da wannan cuta, babu magani a halin yanzu don wannan yanayin. Magunguna da suke bunkasa HDL cholesterol-dukansu sun yarda da gwajin-ba su bayyana don ƙara yawan matakan da aka samu na HDL ba a cikin mutanen da ke fama da cutar Tangier. Biye da abincin da ke da kyau a cikin m mai bada shawara. Harkokin jinya na iya zama wajibi ne bisa ga alamomin da mutum ya samu.
Sources:
> Malloy MJ, Kane JP. Babi na 19. Rashin lafiya na Lipoprotein Metabolism. A cikin: Gardner DG, Shoback D. eds. Greenspan's Basic & Clinical Endocrinology, 9th . New York, NY: McGraw-Hill; 2011.
Pisciotta L, Bocchi L, Candini C, et al. Raunin HDL mai tsanani saboda matsalar lalata a cikin ABCA1. J Intern Med 2009 Mar; 265 (3): 359-72
Puntoni M, Francesco S, Bigazzi F, Sampietro T. Tangier cuta: annoba, cututtuka, da kuma kulawa. Am J Cardiovasc Drugs 2012: 12: 303-311
Schaefer EJ, Santos RD. Babi na 135. Xanthomatoses da Lipoprotein Disorders. A cikin: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. Fitzpatrick ta Dermatology a General Medicine, 8th . New York, NY: McGraw-Hill; 2012