Tus Sau: Judy Howell
Hnub Kev Tsim: 5 Lub Xya Hli Ntuj 2021
Hloov Hnub: 15 Lub Kaum Ib Hli Ntuj 2024
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Hanny Al-Samkari: Mitapivat for Patients With Pyruvate Kinase Deficiency
Daim Duab: Hanny Al-Samkari: Mitapivat for Patients With Pyruvate Kinase Deficiency

Zoo Siab

Pyruvate Kinase Xeem

Cov ntshav liab (RBCs) nqa cov pa oxygen thoob plaws koj lub cev. Ib qho enzyme hu ua pyruvate kinase yog qhov tsim nyog rau koj lub cev ua RBCs thiab ua haujlwm kom zoo. Lub pyruvate kinase testis ua ntsuas ntshav siv los ntsuas cov pyruvate kinase hauv koj lub cev.

Thaum koj muaj pyruvate kinase tsawg dhau lawm, koj RBCs tawg sai dua li ib txwm. Qhov no txo ​​qis RBCs muaj los nqa oxygen mus rau cov kabmob tseem ceeb, cov ntaub so ntswg, thiab lub hlwb. Qhov tshwm sim muaj tshwm sim yog paub tias yog ntshav qab zib ntshav tsawg thiab tuaj yeem muaj kev noj qab haus huv tseem ceeb.

Cov tsos mob ntawm tus mob ntshav khov (hemolytic anemia) muaj:

  • daj daj ntseg (daj tawv nqaij)
  • kev nthuav dav ntawm tus po (tus spleen lub luag haujlwm tseem ceeb yog lim ntshav thiab rhuav tshem RBCs qub thiab puas lawm)
  • anemia (tsis txaus RBCs zoo)
  • daj ntseg tawv nqaij
  • nkees

Koj tus kws kho mob tuaj yeem txiav txim siab yog tias koj muaj pyruvate kinase tsis txaus raws li cov txiaj ntsig ntawm qhov no thiab lwm yam kev kuaj mob.

Vim li cas Pyruvate Kinase Test Yuav Tsum Kom Ua?

Pyruvate kinase deficiency yog cov caj ces tsis zoo uas yog autosomal recessive. Qhov no txhais tau hais tias txhua tus niam txiv muaj lub cev xeeb ntxwv rau cov kabmob no. Txawm hais tias lub gene tsis tau hais tawm hauv ib qho twg ntawm leej niam leej txiv (lub ntsiab lus uas tsis muaj pyruvate kinase tsis muaj peev xwm), lub cev rov qab muaj qhov rov qab muaj 1-nyob rau hauv 4 qhov muaj tshwm sim hauv cov menyuam uas niam txiv muaj ua ke.


Cov menyuam yaus yug los ntawm cov niam txiv uas muaj pyruvate kinase deficiency gene yuav raug sim rau kev tsis sib haum xeeb uas yog siv pyruvate kinase test. Koj tus kws kho mob tseem tuaj yeem xaj kev kuaj raws li kev txheeb xyuas cov tsos mob ntawm pyruvate kinase deficiency. Cov ntaub ntawv sau los ntawm kev kuaj mob lub cev, kev sim pyruvate kinase, thiab lwm yam kev kuaj ntshav yuav pab kom paub tseeb tias kev kuaj mob.

Txoj Kev Kuaj Xyuas Li Cas?

Koj tsis tas yuav ua dab tsi tshwj xeeb los npaj rau qhov kev ntsuas pyruvate kinase. Txawm li cas los xij, kev ntsuas yeej ib txwm muab rau cov menyuam yaus, yog li cov niam txiv yuav xav nrog lawv cov menyuam tham txog seb qhov kev xeem ntawv yuav zoo li cas. Koj tuaj yeem ua qauv twv ntawm tus roj hmab los pab txo koj tus menyuam txoj kev ntxhov siab.

Kev kuaj ntshav pyruvate kinase yog ua rau cov ntshav ntsuas thaum ntsuas cov ntshav. Tus kws saib xyuas mob yuav siv ntshav los ntawm koj txhais caj npab lossis txhais tes siv rab koob me me lossis cov hniav hu ua lancet.

Cov ntshav yuav sib sau ua ke rau hauv lub raj thiab mus rau chav ntsuas kev tshawb xyuas. Koj tus kws kho mob yuav muab cov lus qhia txog qhov txiaj ntsig rau koj thiab qhov nws txhais tau li cas.


Qhov Kev Ntsuas Muaj Dab Tsi yog Dab Tsi?

Cov neeg mob kuaj mob pyruvate kinase kev kuaj mob yuav muaj kev tsis xis nyob lub sijhawm kos ntshav. Tej zaum yuav muaj qee qhov mob ntawm qhov chaw txhaj tshuaj los ntawm rab koob khi. Tom qab, cov neeg mob yuav hnov ​​mob, doog, lossis mob qa ntawm thaj chaw txhaj tshuaj.

Cov kev pheej hmoo ntawm kev xeem muaj tsawg heev. Muaj feem phom sij txog kev kos ntshav muaj xws li:

  • nyuaj muab ib qho hnoos qeev, uas ua rau ntau txoj kab tuav
  • ntau dhau los ntshav ntawm lub vev xaib koob
  • tsaus muag vim muaj cov ntshav tawm
  • qhov kev txuam nrog ntshav hauv qab daim tawv nqaij, paub tias yog hematoma
  • kev txhim kho ntawm kev kis mob uas daim tawv nqaij tau tawg los ntawm rab koob

Nkag Siab Koj Li Kev Tshawb Tau

Cov txiaj ntsig ntawm pyruvate kinase kev ntsuas yuav txawv nyob ntawm kev kuaj ntsuas cov ntshav ntsuas. Tus nqi ib txwm rau pyruvate kinase kev xeem yog feem ntau 179 ntxiv lossis rho tawm 16 qhov pyruvate kinase ib 100 millilitres ntawm RBCs. Qib ntawm pyruvate kinase qis qhia pom muaj pyruvate kinase tsis txaus.


Nws tsis muaj tshuaj kho rau pyruvate kinase deficiency. Yog tias koj kuaj pom tus mob no, koj tus kws kho mob yuav pom zoo ntau yam kev kho mob. Feem ntau, cov neeg mob pyruvate kinase deficiency yuav tsum tau tso ntshav mus hloov cov RBCs uas puas lawm. Qhov txhab ntshav ntxiv yog txhaj ntshav los ntawm tus neeg pub ntshav.

Yog tias cov tsos mob ntawm qhov kev cuam tshuam loj heev, koj tus kws kho mob yuav pom zoo kom ua qhov txha caj qaum (tshem tawm ntawm qhov hnoos qeev). Kev tshem tawm tus hnoos qeev tuaj yeem pab txo qis RBCs uas tau muab rhuav pov tseg. Txawm hais tias tus po raug tshem tawm, cov tsos mob ntawm kev tsis sib haum xeeb kuj tseem muaj. Qhov xwm zoo yog tias kev kho yuav luag txo koj cov tsos mob thiab txhim kho koj lub neej kom zoo.

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