Dab tsi hloov pauv ua rau Marfan syndrome?
Dab tsi hloov pauv ua rau Marfan syndrome?

Video: Dab tsi hloov pauv ua rau Marfan syndrome?

Video: Dab tsi hloov pauv ua rau Marfan syndrome?
Video: Aortic Root Dilatation in TOF Patient and suspected with Marfan Syndrome 2024, Lub Xya hli ntuj
Anonim

Nws yog ua los ntawm kev hloov pauv hauv FBN1 noob, uas muab cov lus qhia rau ua cov protein hu ua fibrillin-1. Marfan syndrome: cov tsos mob tau txais los ntawm tus qauv autosomal tseem ceeb. Tsawg kawg 25% ntawm cov xwm txheej yog vim qhov tshiab (de novo) kev hloov pauv . Kev kho yog ua raws cov cim thiab tsos mob ntawm txhua tus neeg.

Kuj nug, hom kev hloov pauv dab tsi ua rau Marfan syndrome?

Kev hloov pauv hauv FBN1 noob ua rau Marfan syndrome . FBN1 noob muab cov lus qhia rau ua cov protein hu ua fibrillin-1. Fibrillin-1 txuas (khi) rau lwm cov fibrillin-1 cov protein thiab lwm yam khoom siv los tsim cov xov paj zoo li hu ua microfibrils.

Ntxiv mus, dab tsi ua rau Marfan syndrome? Marfan syndrome: cov tsos mob yog ua los ntawm qhov tsis xws luag nyob hauv cov noob uas ua rau koj lub cev tsim cov protein uas pab muab cov ntaub so ntswg sib txuas nws lub zog thiab lub zog. Cov neeg feem coob nrog Marfan syndrome: cov tsos mob tau txais cov noob tsis txawv txav los ntawm niam txiv uas muaj teeb meem.

Yog li ntawd, puas yog Marfan syndrome yog qhov hloov pauv?

Cov Marfan syndrome: cov tsos mob yog tshwm sim los ntawm a taw tes hloov pauv hauv cov noob fibrillin.

Cov protein dab tsi ua rau Marfan syndrome?

Marfan syndrome: cov tsos mob yog autosomal tseem ceeb tsis meej pem uas tau txuas rau FBN1 noob ntawm chromosome 15. FBN1 encodes a protein ntau hu ua fibrillin, uas yog qhov tseem ceeb rau kev tsim cov fibers ywj pheej pom hauv cov nqaij sib txuas.

Pom zoo: