Cudurka Tangier, oo loo yaqaan 'alpha lipoprotein deficiency', ayaa ah xaalad aad u dhif ah, oo aan dhif ahayn, oo markii hore lagu sharaxay ilmo ku yaal Tangier Island, jasiirad ku taal xeebta Virginia. Dadka qaba xaaladdaan waxay leeyihiin heerar aad u hooseeya ee HDL kolesteroolka sababtoo ah isbeddel ku yimaad hidda loo yaqaan ABCA1. Gowrahan ayaa ka caawiya sameynta borotiinka caawiya in laga saaro kolestaroolka xad-dhaafka ah ee gudaha unugyada.
Marka borotiinkani si sax ah u shaqeynayo, kolestaroolka ayaa la gooyaa meel ka baxsan unugyada waxayna isku xidhan tahay apolipoprotein A. Tani waxay u samaysaa HDL, ama "cholesterol" oo wanaagsan, oo u socon doonta beerka si kolesteroolka loo soo celin karo. Iyadoo aan lahayn borotiinkan, kolestaroolku wuxuu ku jiri doonaa gudaha gudaha unugyada waxayna bilaabaan inay ku ururaan iyaga.
Astaamaha
Cudurka Tangier waxaa badanaa lagu sheegaa carruurnimada. Calaamadaha cudurka Cagaarshowga Tangier waxay u dhaxeyn karaan si aad u daran ilaa aad u culus waxayna kuxirantahay haddii aad haysato hal ama laba nuqul oo ah hidda-wadaha.
Dadka qaba homozygos ee xaaladdaan waxay isku beddelayaan nuqullada ABCA1-da ee codadka borotiinka oo aan shaki ku jirin kolestaroolka HDL ee ku wareega dhiigga. Dadkani waxay sidoo kale leeyihiin calaamado kale oo ka dhalan kara kolesteroolka ku jira unugyada kala duwan ee jirka, oo ay ka mid yihiin:
- Ciladaha nudaha, oo ay ku jiraan nuucyada neuropathy, xoogaa hoos u dhac, lumid xanuun ama dareemid kuleyl, murqo xanuun
- Muuqaalka darbiga
- Qalabka lafdhabarta ah
- Calaamadaha foosha, sida shubanka iyo xanuunka caloosha
- Sawir ama jaallaha jaalaha ah ee xuubka mindhicirka, oo ay ku jiraan malawadka
- Gogol-xayiraan, jaale-qoyan
- Beerka la ballaariyey
- Beerta weyn ee ballaaran
- Cudurka wadnaha ee uur-ku-jirta
Dadka loo arko in ay qabaan cudurka hurgunka ah ee Tangier, dhinaca kale, waxay leeyihiin hal nuqul oo ah hiddesaha isqaba.
Waxay sidoo kale qiyaas ahaan kala badh yihiin heerka caadiga ah ee HDL ee ku wareegaya dhiigga. Inkasta oo dadka kufsiga qaba ee xaaladdan ay caadi ahaan khibrad u leeyihiin calaamado lahayn, waxay sidoo kale halis u yihiin cudurada wadnaha oo dhicis ah sababtoo ah khatarta sii kordheysa ee kudhaca cudurada atherosclerosis . Waxaa intaa dheer, qof kasta oo laga helay cudurkaan ayaa laga yaabaa inuu u gudbiyo xaaladdaan caafimaad iyada oo ay la socdaan carruurtooda.
Ciladeynta
Guddi lipid ayaa samayn doona bixiyahaaga daryeelka caafimaadka si loo baaro heerarka kolestaroolka ku jira dhiiggaaga. Haddii aad qabtid cudurka Tangur, baadhitaankan ayaa muujin doona natiijooyinka soo socda:
- Heerka HDL-da ee ka yar 5 mg / dL oo ku jira shakhsiyaadka u nugul
- Kolestaroolka HDL inta u dhaxaysa 5 iyo 30mg / dL ee shaqsiyaadka heterozygous
- Heerarka guud ee kolestaroolka (inta u dhaxaysa 38 ilaa 112 mg / dL)
- Triglycerides caadi ah ama qiyaas ahaan (inta u dhaxaysa 116 iyo 332 mg / dL)
- Heerarka astaamaha apolipoprotein A waxay sidoo kale noqon kartaa mid aan hoos u dhicin.
Si loo ogaado cudurka Tangier-ga, bixiyahaaga daryeelka caafimaad ayaa baari doona natiijooyinka guddigaaga lipid waxana uu sidoo kale tixgelin doonaa calaamadaha iyo astaamaha aad la kulantid. Haddii aad leedahay taariikh qoys ee cudurka Tangier, bixiyahaaga daryeelka caafimaad ayaa sidoo kale tan ku xisaabtamaya.
Daaweynta
Sababtoo ah cilladan cudurkan, ma jiraan wax daaweyn ah oo la heli karo xaaladan. Daawooyinka kor u qaada kolestaroolka HDL-labadaba la ansaxiyey oo tijaabin-uma muuqdaan inay kordhinayaan heerarka HDL ee dadka qaba cudurka Tangier. Ka dib markaad cunto caafimaad leh oo aad u yar oo ku jirta dufanka cufan leh ayaa lagula talinayaa. Qaliinka waxaa laga yaabaa in lagama maarmaan ayadoo loo eegayo calaamadaha ay soo martay shakhsiga.
Ilaha:
> Malloy MJ, Kane JP. Cutubka 19. Cudurada Lipoprotein Metabolism. In: Gardner DG, Shoback D. eds. Greenspan's Endocrinology Basic & Clinical, 9e . New York, NY: McGraw-Hill; 2011.
Pisciotta L, Bocchi L, Candini C, iyo al. Hoosudhaca daran ee HDL sababtoo ah cilladaha cusub ee gaadiidka ABCA1. J Internal Med 2009 Mar; 265 (3): 359-72
Puntoni M, Francesco S, Bigazzi F, Sampietro T. Cudurka Tangier: Epidemiyolojiga, baarista cudurada, iyo maamulka. Am J Cardiovasc Drugs 2012: 12: 303-311
Schaefer EJ, Santos RD. Cutubka 135. Xanthomatoses iyo Lipoprotein Disorders. In: Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, Wolff K. eds. Fitzpatrick's Dermatology ee Daawada General, 8e . New York, NY: McGraw-Hill; 2012