Pyruvate kinase (PK) deficiency yog an tau txais txiaj ntsig (autosomal recessive) ntshav liab (RBC) enzyme tsis meej uas ua rau mob hemolysisNws yog qhov thib ob feem ntau RBC enzyme defect tab sis yog qhov ua rau mob hemolytic anemia los ntawm RBC enzyme deficiency.
YYuav ua li cas hauv pyruvate kinase deficiency?
Pyruvate kinase enzyme lov ib qho tshuaj lom neeg hu ua adenosine triphosphate (ATP). Vim tias qhov enzyme no tsis txaus, muaj qhov tsis muaj ATP. Qhov no ua rau lub cev qhuav dej ntawm cov qe ntshav liab thiab cov qe ntshav liab txawv txavCov qe ntshav liab hloov pauv tau luv luv ua rau muaj ntshav ntshav hemolytic.
Cov tsos mob ntawm pyruvate kinase deficiency yog dab tsi?
Cov tsos mob thiab cov tsos mob ntawm pyruvate kinase deficiency yuav txawv ntawm ib tus neeg mus rau ib tus neeg, tab sis feem ntau suav nrog kev tawg ntawm cov qe ntshav liab uas ua rau hemolytic anemia, ua daj ntawm qhov muag dawb (icterus), qaug zog, qaug zog, rov qab pob zeb, jaundice, thiab tawv nqaij daj (pallor).
Puas muaj kev kho rau pyruvate kinase deficiency?
Allogeneic hematopoietic stem cell transplantation (HSCT) tuaj yeem kho tauPK deficiency. Qhov no tau ua raws li cov tib neeg tsawg tsawg, tshwj xeeb tshaj yog cov neeg uas xav tau kev hloov ntshav mus ntev.
YPyruvate kinase yog dab tsi?
Pyruvate kinase yog ib qho enzyme uas catalyzes hloov pauv ntawm phosphoenolpyruvate thiab ADP rau pyruvate thiab ATP hauv glycolysis thiab ua lub luag haujlwm hauv kev tswj cov cell metabolism. Muaj plaub hom tsiaj txhu pyruvate kinase isoforms nrog cov qauv ntawm cov ntaub so ntswg tshwj xeeb thiab kev tswj xyuas.
