Qhov kev mob caj ces no yog tshwm sim los ntawm hloov pauv (mutation) hauv fibroblast kev loj hlob receptor 3 (FGFR3) noobAchondroplasia tshwm sim los ntawm kev hloov pauv caj ces tshwm sim hauv kwv yees li 80. feem pua ntawm cov neeg mob; nyob rau 20 feem pua tseem tau txais los ntawm niam txiv.
Qhov laj thawj tseem ceeb ntawm Achondroplastic dwarfism yog dab tsi?
Achondroplasia yog tshwm sim los ntawm mutations hauv FGFR3 noob. Cov noob no muab cov lus qhia rau kev ua cov protein uas koom nrog hauv kev txhim kho thiab tu cov pob txha thiab lub hlwb. Ob qhov kev hloov pauv tshwj xeeb hauv FGFR3 noob yog lub luag haujlwm rau yuav luag txhua kis ntawm achondroplasia.
Puas pom dwarfism thaum cev xeeb tub?
Kev kuaj kua dej Amniotic – Tus kws kho mob yuav ntsuas cov kua amniotic los txiav txim seb puas muaj dwarfism. Yog tias leej niam muaj ntau dhau kua amniotic, qhov ntawd tuaj yeem yog qhov qhia txog dwarfism. Chorionic villus sampling - Chorionic villus sampling ntawm 11 lub lis piam tuaj yeem pab tus kws kho mob paub meej tias dwarfism.
Koj puas tuaj yeem tiv thaiv achondroplasia?
Tam sim no, tsis muaj txoj hauv kev los tiv thaiv achondroplasia, vim tias feem ntau tshwm sim los ntawm kev hloov pauv tshiab tsis xav txog. Cov kws kho mob tuaj yeem kho qee cov menyuam yaus nrog kev loj hlob hormone, tab sis qhov no tsis cuam tshuam qhov siab ntawm tus menyuam nrog achondroplasia. Hauv qee qhov tshwj xeeb, kev phais kom ntev ceg yuav raug txiav txim siab.
Puas dwarfism recessive noob?
Txhua yam ntawm primordial dwarfism yog tshwm sim los ntawm kev hloov pauv hauv cov noob. Cov kev hloov pauv ntawm cov noob sib txawv ua rau cov xwm txheej sib txawv uas ua rau cov neeg ua ntej dwarfism. Feem ntau, tab sis tsis yog txhua tus, cov tib neeg uas muaj dwarfism primordial dwarfism tau txais cov noob caj noob ces los ntawm txhua tus niam txiv. Qhov no yog hu ua autosomal recessive condition
