Kodi Matenda a Tangier Ndi Chiyani?

Matenda a Tangier, omwe amadziwikanso kuti ndi aamuna a chiwerengero cha alpha lipoprotein, ndi chosowa kwambiri, choloŵa cholowa chomwe poyamba chinalongosoleredwa mwa mwana ku Tangier Island, chilumba chomwe chili pamphepete mwa nyanja ya Virginia. Anthu omwe ali ndi vutoli ali ndi otsika kwambiri a ma CD a cholesterol a HDL chifukwa cha kusintha kwa geni lotchedwa ABCA1. Jini imeneyi imathandiza kupanga mapuloteni omwe amathandiza kuchotsa cholesterol wambiri mkati mwa selo.

Pamene mapuloteniwa akugwira ntchito bwino, cholesterol imachotsedwa kunja kwa selo ndikukumangiriza ku apolipoprotein A. Izi zimapanga HDL, kapena "wabwino" cholesterol, chomwe chidzapita ku chiwindi kuti cholesterol ikhoze kubwezeretsedwa. Pokhapokha mapuloteniwa, kolesterolini ikhala mkati mwa maselo ndikuyamba kudziunjikira mkati mwawo.

Zizindikiro

Matenda a Tangier amadziwika kwambiri ali mwana. Zizindikiro za matenda a Tangier zimatha kuchokera ku zovuta kwambiri mpaka zofatsa ndipo zimadalira ngati muli ndi jekeseni imodzi kapena ziwiri ya mutered gene.

Anthu omwe ali ochezygous pachikhalidwe ichi asinthika m'magulu onse awiri a ABCA1 jini omwe amachititsa mapuloteni ndipo alibe HDL cholesterol yomwe imazungulira m'magazi. Anthuwa adzakhalanso ndi zizindikiro zina chifukwa cha kuwonjezeka kwa kolesteroloni m'maselo osiyanasiyana m'thupi, kuphatikizapo:

• Zovuta zokhudzana ndi ubongo, zomwe zimaphatikizapo ziwalo za m'mimba, kuchepa kwa mphamvu, kutaya ululu kapena kutentha kwa thupi, kupweteka kwa minofu

• Kuthamanga kwa cornea
• Lymph nodes
• Zizindikiro za m'mimba, monga kutsekula m'mimba ndi kupweteka m'mimba
• Maonekedwe kapena chikasu chachikasu pamimba m'mimba, kuphatikizapo rectum
• Zowonjezeredwa, zamtundu wachilanje zamatoni
• Chiwindi chofutukuka
• Mphuno yotukulidwa
• Matenda a mtima wam'mbuyo

Anthu omwe amadziwika kuti ali ndi matenda a Tangier a heterozygous, komano, ali ndi kope limodzi la gene mutated.

Komanso ali ndi theka la HDL yozungulira magazi. Ngakhale anthu omwe ali heterozygous chifukwa cha matendawa amakhala ocheperapo kwambiri, sakanatha kudwala matendawa chifukwa cha chiopsezo chachikulu cha matenda a atherosclerosis . Komanso, aliyense amene amapezeka kuti ali ndi matendawa akhoza kupititsa kuchipatalachi kwa ana awo.

Kudziwa

Pulojekiti yamakono idzachitidwa ndi wothandizira zaumoyo wanu kuti muwone kuchuluka kwa kolesteroloni yozungulira m'magazi anu. Ngati muli ndi matenda a Tangier, mayesowa amasonyeza zotsatirazi:

• Matenda a HDL otchedwa cholesterol ochepa kuposa 5 mg / dL mwa anthu otetezeka
• Chotupa cha HDL pakati pa 5 ndi 30 mg / dL mwa anthu a heterozygous
• Mafuta ambiri a mafuta m'thupi (pakati pa 38 ndi 112 mg / dL)
• Triglycerides yapamwamba kapena yowonjezereka (kuyambira pakati pa 116 ndi 332 mg / dL)
• Mipata ya apolipoprotein A ikhoza kukhala yotsika mpaka yosadziwika.

Kuti matenda a Tangier adziwe, wothandizira zaumoyo wanu adzayang'ana zotsatira za gulu lanu lamapiritsi ndipo adzakambirananso zizindikiro zomwe mukukumana nazo. Ngati muli ndi mbiri ya banja la Tangier matenda, wothandizira zaumoyo wanu adzalandanso izi.

Chithandizo

Chifukwa cha matendawa, pakalipano palibe mankhwala omwe alipo pa chikhalidwe ichi. Mankhwala omwe amathandiza kwambiri HDL cholesterol-onse omwe amavomerezedwa ndi kuyesera-samaoneka kuti akuwonjezera ma level HDL kwa anthu omwe ali ndi matenda a Tanger. Kudya chakudya chopatsa thanzi chomwe chilibe mafuta okhutira akulimbikitsidwa. Kuchita opaleshoni kungakhale kofunikira kumadalira zizindikiro zomwe munthuyo amapeza.

_Zotsatira:

> Malloy MJ, Kane JP. Mutu 19. Kusokonezeka kwa Lipoprotein Metabolism. Mu: Gardner DG, Shoback D. eds. Greenspan's Basic & Clinical Endocrinology, 9e . New York, NY: Hill ya McGraw; 2011.

_{Pisciotta L, Bocchi L, Candini C, et al. Kulephera kwa HDL kukusowa chifukwa cha zolakwika za ABCA1. J Intern Med 2009 Mar; 265 (3): 359-72}

_{Puntoni M, Francesco S, Bigazzi F, Sampietro T. Matenda a Tangier: matenda, matenda, matenda komanso matenda. Am J Cardiovasc Mankhwala Osokoneza Bongo 2012: 12: 303-311}

_{Schaefer EJ, Santos RD. Mutu 135. Xanthomatoses ndi Matenda a Lipoprotein. Mu: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, DJ Leffell, Wolff K. eds. Dermatology ya Fitzpatrick mu General Medicine, 8e . New York, NY: Hill ya McGraw; 2012}