Intermediate cystinosis feem ntau pib cuam tshuam rau cov tib neeg ib nrab hnub nyoog kaum ob txog kaum tsib. Kev ua haujlwm tsis zoo rau lub raum thiab pob txha pob txha pob txha yog cov yam ntxwv tseem ceeb ntawm qhov teeb meem no. Yog tias qhov nruab nrab cystinosis tsis kho, lub raum tsis ua tiav yuav tshwm sim, tab sis feem ntau tsis mus txog rau thaum cov hluas mus txog rau nees nkaum xyoo.
Koj paub li cas yog tias koj muaj cystinosis?
Kev kuaj mob cystinosis tuaj yeem lees paub los ntawm ntsuas cov qib cystine hauv qee cov qe ntshav dawb("polymorphonuclear leukocytes"). Kev kuaj zis yuav qhia tau tias tsis muaj cov as-ham ntau ntxiv nrog rau cov zaub mov, electrolytes, amino acids, carnitine thiab dej, uas yog qhov qhia txog lub raum Fanconi syndrome.
Thaum twg cystinosis kuaj tau?
Kev kuaj mob cystinosis
1. Cystinosis yuav tsum tau xav tias nyob rau hauv tag nrho cov neeg mob uas muaj tsis ua tiav thiab cov cim qhia ntawm lub raum Fanconi syndrome, vim nws yog qhov ua rau muaj feem cuam tshuam ntawm Fanconi syndrome hauv cov menyuam yaus. Kev kuaj pom ntawm cov ntsiab lus siab ntawm cov cystine intracellular yog lub hauv paus rau kev kuaj mob.
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 tsim thiab ua rau muaj teeb meem hauv ntau lub cev thiab cov ntaub so ntswg.
Ntau npaum li cas yog nephropathic cystinosis?
Nephropathic cystinosis yog ib qhoautosomal recessive metabolic teeb meem. Nws yog ib yam kab mob uas tsis tshua muaj tshwm sim rau lub neej ntawm tus neeg mob. Qhov tshwm sim txhua xyoo ntawm nephropathic cystinosis yog ~ 1: 150, 000 txog 200, 000 yug nyob thiab nws qhov muaj feem ntau yog ~ 1.6 ib lab tus tib neeg.
