Cystinosis yog tshwm sim los ntawm kev hloov pauv ntawm CTNS gene thiab tau txais los ua ib qho autosomal recessive disease.
cystinosis ua dab tsi rau lub cev?
Nyob rau hauv cov neeg uas muaj cystinosis, ib qho kev tsim ntawm cystine tuaj yeem ua rau tsim cov muaju. Cystinosis tuaj yeem cuam tshuam rau ntau qhov chaw ntawm lub cev, suav nrog lub qhov muag, cov leeg, lub hlwb, lub plawv, cov qe ntshav dawb, cov thyroid, thiab pancreas. Cystinosis tuaj yeem ua rau muaj teeb meem loj rau lub raum.
Yuav ua li cas cystinosis ua rau Fanconi syndrome?
Cystinosis yog hom kab mob tshwm sim tshaj plaws ntawm lub raum Fanconi syndrome hauv cov menyuam yaus. Nws yog autosomal recessive lysosomal cia teeb meem tshwm sim los ntawm kev hloov pauv hauv CTNS gene encoding rau cov cab kuj protein cystinosin, thauj cystine tawm ntawm lysosomal compartment.
Puas cystinosis ua rau lub raum pob zeb?
Cov tsos mob tshwm sim feem ntau ntawm cov kab mob uas tsis yog nephropathic (ocular) cystinosis yog cov khoom siv lead ua nyob rau hauv lub pob muag ntawm lub qhov muag, uas ua rau mob thiab ua rau lub teeb pom kev zoo (photosensitivity). Cov neeg uas tsis yog nephropathic cystinosis feem ntau tsis tsim teeb meem raum lossis lwm yam tsos mob cuam tshuam nrog cystinosis.
YYuav ua li cas hauv cystinosis?
Cystinosis yog ib yam mob uas tshwm sim los ntawm sib sau ntawm cov amino acid cystine (ib lub tsev thaiv ntawm cov proteins) hauv hlwb. Cov cystine ntau dhau ua rau cov hlwb thiab feem ntau tsim cov pob zeb uas tuaj yeem tsimnce thiab ua teeb meem hauv ntau lub cev thiab cov ntaub so ntswg.
