Pyruvate Kinase Deficiency yog dab tsi? Cia peb tham txog nws yooj yim!

Niaj hnub no peb yuav tham txog ib qho mob caj ces uas tsis tshua muaj, tab sis tseem ceeb heev. Qhov no hu ua 'Pyruvate Kinase Deficiency'. Xav txog, muaj ib qho enzyme tshwj xeeb hauv peb lub cev uas pab cov qe ntshav liab ua lub zog, thiab nws hu ua 'Pyruvate Kinase'. Yog li, thaum tsis muaj txaus ntawm cov enzyme no hauv lub cev (qhov ntawd yog qhov hu ua deficiency), cov qe ntshav liab ntawd tsis muaj zog ua lawv txoj haujlwm kom zoo, thiab lawv pib tawg sai sai ua ntej cov qe ntshav liab tshiab tuaj yeem tsim tau.

Cov qe ntshav liab no nqa cov pa oxygen thoob plaws peb lub cev. Yog li thaum cov qe ntshav liab raug txo vim yog Pyruvate Kinase Deficiency, lwm cov qe ntshav hauv lub cev tsis tau txais oxygen txaus. Yog li ntawd, koj yuav muaj cov tsos mob ntawm anemia. Qhov no yog ib qho mob uas muaj txij thaum yug los thiab kav ntev thoob plaws koj lub neej. Qhov no txhais tau tias koj yuav tsum nyob hauv kev saib xyuas ntawm tus kws kho mob ntshav thoob plaws koj lub neej. Txawm li cas los xij, cov tsos mob no tuaj yeem sib txawv ntawm ib tus neeg mus rau ib tus neeg.

Cov tsos mob ntawm Pyruvate Kinase Deficiency yog dab tsi?

Cov tsos mob feem ntau ntawm anemia hauv tus mob no yog:

• Xav tias nkees heev: Qhov no txhais tau tias xav tias nkees tas li, txawm tias ua qhov me tshaj plaws los xij.
• Palpitations: Xav tias koj lub hauv siab dhia txawm tias koj sawv ntsug twj ywm.
• Ua tsis taus pa: Xav tias ua tsis taus pa txawm tias siv zog me ntsis los xij.
• Tawv nqaij daj ntseg: Thaum lub cev poob ntshav, daim tawv nqaij hloov xim, puas yog?
• Kiv taub hau: Ib qho kev xav ntawm kev tig, qee zaum zoo li koj yuav poob.
• Mob taub hau : Mob taub hau ntau zaus.

Ntxiv rau cov tsos mob ntawm cov ntshav tsis txaus no, lwm cov tsos mob kuj yuav tshwm sim vim yog cov khoom pov tseg los ntawm cov qe ntshav liab tawg hauv lub cev. Cia peb saib seb lawv yog dab tsi:

• Mob daj ntseg: Kev daj ntawm daim tawv nqaij thiab lub qhov muag dawb. Qhov no yog tshwm sim los ntawm kev tsim cov tshuaj hu ua bilirubin ntau ntxiv, uas yog los ntawm cov qe ntshav liab uas tawg lawm.
• Tus Pos Ntswg Loj: Tus pos ntswg yog ib lub cev hauv peb lub cev uas khaws cov qe ntshav liab uas tawg lawm. Yog li ntawd, thaum muaj kev puas tsuaj ntau dhau ntawm cov qe ntshav, tus pos ntswg tuaj yeem loj tuaj.
• Cov zis tsaus: Cov zis uas tsaus dua li qub.

Feem ntau cov tsos mob tshwm sim thaum muaj hnub nyoog li cas?

Txawm hais tias Pyruvate Kinase Deficiency (PK Deficiency) yog ib qho mob uas muaj thaum yug los, lub sijhawm uas nws siv rau cov tsos mob tshwm sim nyob ntawm qhov hnyav ntawm koj tus mob.

Xav txog seb, qee cov menyuam mos muaj cov tsos mob hnyav heev uas lawv xav tau kev kho mob tam sim ntawd. Cov menyuam mos me me yuav quaj ntau, tsis kam noj mov, thiab tsis ua si lawm. Cov menyuam loj dua yuav yws tias lawv nkees tas li thiab tsis xav khiav thiab ua si lawm. Ib txhia neeg laus yuav tsis paub tias lawv muaj tus mob no kom txog thaum nws yog ib qho kev ntxhov siab loj - piv txwv li, thaum cev xeeb tub, muaj kab mob loj, lossis raug mob.

Vim li cas qhov 'Pyruvate Kinase Deficiency' no thiaj tshwm sim?

Qhov no yog ib yam kab mob caj ces uas kis tau los ntawm ib tiam dhau ib tiam vim muaj qhov tsis zoo hauv ib lub noob hu ua '(PKLR)'. Xav txog nws zoo li peb cov noob zoo li ib phau ntawv uas qhia peb cov hlwb "ua li no, ua li ntawd". Koj lub noob '(PKLR)' qhia cov hlwb ntshav liab yuav ua li cas los tsim ib lub enzyme hu ua 'Pyruvate Kinase'. Lub enzyme 'Pyruvate Kinase' no pab cov hlwb ntshav liab tsim 'Adenosine Triphosphate' (ATP)', ib qho chaw muab zog.

Yog li ntawd, rau ib tug neeg uas muaj 'Pyruvate Kinase Deficiency' (PK Deficiency), vim muaj qhov tsis zoo hauv '(PKLR)' gene, cov qe ntshav liab tsis muaj peev xwm tsim tau txaus 'Pyruvate Kinase' enzyme. Yog li ntawd, cov qe ntshav liab tsis muaj peev xwm tsim tau lub zog '(ATP)' uas lawv xav tau kom muaj sia nyob. Yog li ntawd, cov qe ntshav ntawd tawg sai sai. Tom qab ntawd tus lej ntawm cov qe ntshav liab hauv lub cev txo qis. Qhov no hu ua 'Hemolytic Anemia' , uas txhais tau tias ntshav tsis txaus los ntawm kev tawg ntawm cov qe ntshav liab.

Yuav ua li cas cov noob caj noob ces kis tau: `(Autosomal Recessive Inheritance)`

Yuav kom muaj 'Pyruvate Kinase Deficiency' (PK Deficiency), koj yuav tsum tau txais ob lub noob 'PKLR' uas tsis zoo . Ib lub los ntawm koj niam thiab ib lub los ntawm koj txiv. Qhov no yog qhov peb hu ua 'Autosomal Recessive Inheritance' hauv kev kho mob. Yuav kom qhov no tshwm sim, ob leeg niam txiv yuav tsum muaj ib lub noob 'PKLR' ib txwm muaj thiab ib lub noob 'PKLR' uas tsis zoo. Txawm li cas los xij, tshwj tsis yog tias lawv tau kuaj noob caj noob ces, lawv yuav tsis paub tias lawv muaj lub noob tsis zoo no lossis lawv tuaj yeem xa mus rau lawv cov menyuam.

Rau ib khub niam txiv zoo li no, muaj ib ntawm plaub (25%) txoj hmoo uas lawv tus menyuam yuav tau txais ob qho tib si '(PKLR)' noob caj noob ces uas tsis zoo thiab muaj 'Pyruvate Kinase Deficiency'.

Leej twg muaj feem yuav mob no ntau dua?

Pyruvate kinase deficiency (PK Deficiency) yog ib yam mob caj ces uas kis tau los ntawm niam txiv mus rau menyuam, thiab feem ntau pom muaj nyob rau hauv qee pawg neeg. Feem ntau pom muaj nyob rau hauv cov neeg uas yog neeg European sab qaum teb. Nws kuj pom muaj nyob rau hauv qee lub zej zog Amish hauv Pennsylvania thiab Ohio.

Puas muaj ib txoj kev los txo qhov kev pheej hmoo?

Peb tsis tuaj yeem tiv thaiv cov mob caj ces uas tau txais los ntawm noob caj ces. Txawm li cas los xij, koj tuaj yeem sim koj qhov kev pheej hmoo ntawm kev muaj menyuam nrog Pyruvate Kinase Deficiency. Yog tias koj lossis koj tus khub muaj keeb kwm tsev neeg ntawm tus mob no, nws yog ib lub tswv yim zoo los tham nrog tus kws pab tswv yim txog noob caj ces. Lawv tuaj yeem piav qhia txog cov kev kuaj DNA uas muaj thiab tuaj yeem pab koj nkag siab txog cov txiaj ntsig uas yuav tshwm sim thaum cev xeeb tub.

Vim muaj tus mob no, yuav muaj teeb meem dab tsi tshwm sim?

Muaj ib txhia neeg tsuas pom tias lawv muaj Pyruvate Kinase Deficiency tom qab muaj teeb meem tshwm sim. Cov teeb meem no suav nrog:

• Cov pob zeb hauv lub zais zis: Cov pob zeb hauv lub zais zis tuaj yeem tsim nyob rau hauv lub zais zis.
• Kev muaj hlau ntau dhau: Kev muaj hlau ntau dhau tuaj yeem tshwm sim vim muaj mob lossis kev hloov ntshav ntau zaus.
• Cov qhov txhab uas tsis kho rau ntawm ob txhais ceg (`(Leg Ulcers)`).
• Mob Ntshav Siab Hauv Plawv: Kev siab ntxiv hauv cov hlab ntsha uas txuas nrog lub ntsws.
• Kev ua kom cov pob txha tsis muaj zog: Qhov no ua rau muaj kev pheej hmoo ntawm kev tawg thiab kev pheej hmoo ntawm kev mob xws li osteoporosis thaum peb laus.
• Cov teeb meem thaum cev xeeb tub: tej yam xws li kev rho menyuam, yug ntxov, thiab lwm yam.

Cev xeeb tub yog lub sijhawm uas muaj kev ntxhov siab loj heev rau lub cev. Qhov no tuaj yeem ua rau muaj cov tsos mob tshiab lossis cov tsos mob hnyav zuj zus ntawm pyruvate kinase deficiency (PK Deficiency). Nws kuj tseem tuaj yeem cuam tshuam rau tus menyuam hauv plab. Txawm li cas los xij, cov teeb meem cev xeeb tub tsis tshua muaj. Yog tias koj cev xeeb tub, koj tus kws kho mob poj niam thiab kws kho mob poj niam yuav ua haujlwm nrog koj tus kws kho mob ntshav kom koj thiab koj tus menyuam muaj kev nyab xeeb.

Cov kws kho mob kuaj mob li cas?

Yog tias tus menyuam hauv plab muaj cov tsos mob ntawm Pyruvate Kinase Deficiency, qee zaum lawv tuaj yeem pom thaum lub sijhawm ultrasound scan ua ntej yug los. Yog tias qhov no raug xav tias muaj, cov kws kho mob tuaj yeem kuaj xyuas qhov mob. Piv txwv li, cov kua dej hauv lub cev ntawm tus menyuam hauv plab (Hydrops Fetalis) yog ib qho cim ceeb toom.

Yog tias koj lossis koj tus menyuam muaj cov tsos mob ntawm pyruvate kinase deficiency (PK Deficiency), tus kws kho mob yuav xaj ntau qhov kev kuaj ntshav. Cov kev kuaj no yuav nrhiav:

• Kab mob ntshav tsis txaus: Qhov kev kuaj ntshav no yuav xyuas seb koj puas muaj kab mob ntshav tsis txaus. Vim tias kab mob ntshav tsis txaus muaj ntau yam ua rau, qhov kev kuaj ntshav no kuj pab tshem tawm lwm yam ua rau.
• Seb qhov kev ua haujlwm ntawm cov enzyme 'pyruvate kinase' qis: Kev kuaj biochemical tuaj yeem ntsuas seb koj cov enzyme 'pyruvate kinase' ua haujlwm li cas. Hauv 'pyruvate kinase deficiency', nws cov haujlwm qis.
• Puas muaj kev hloov pauv hauv cov noob caj noob ces `(PKLR)`?Cov kev kuaj mob molecular tuaj yeem nrhiav pom qhov tsis zoo hauv cov noob caj noob ces PKLR uas ua rau muaj tus kab mob no.

Yuav kho tus mob Pyruvate Kinase Deficiency li cas?

Kev kho mob nyob ntawm seb koj cov tsos mob hnyav npaum li cas thiab thaum twg tau kuaj pom tias muaj tus kab mob.

Rau cov menyuam hauv plab thiab cov menyuam mos uas nyob hauv plab

Cov menyuam hauv plab thiab cov menyuam mos uas muaj Pyruvate Kinase Deficiency yuav xav tau kev kho mob cawm siav. Piv txwv li:

• Kev Txhaj Tshuaj Rau Hauv Lub Tsev Me Nyuam: Ib tug me nyuam hauv plab uas muaj pyruvate kinase deficiency (PK Deficiency) yuav tsum tau kho ua ntej yug los. Hauv txoj kev kho mob no, cov qe ntshav liab los ntawm tus neeg pub dawb raug txhaj rau hauv tus me nyuam hauv plab.
• Kev kho mob los ntawm lub teeb: Qhov no pab rhuav tshem cov khoom pov tseg hu ua bilirubin uas tsim tawm hauv lub cev ntawm tus menyuam mos. Mob daj ntseg tshwm sim thaum bilirubin tsim tawm.
• Kev Hloov Ntshav: Cov menyuam mos uas muaj mob daj ntseg hnyav yuav xav tau kev kho mob no. Ntawm no, cov ntshav ntawm tus menyuam raug hloov nrog cov ntshav los ntawm tus neeg pub dawb.

Rau cov menyuam mos, cov menyuam yaus thiab cov neeg laus

Cov kev kho mob no tuaj yeem tswj cov tsos mob ntawm kev tsis muaj zog thiab tiv thaiv cov teeb meem uas tshwm sim los ntawm pyruvate kinase deficiency (PK deficiency).

• Kev Hloov Ntshav: Tej zaum koj yuav xav tau kev hloov ntshav thoob plaws hauv koj lub neej los hloov koj cov qe ntshav liab uas tsis tshua muaj. Txawm li cas los xij, qee tus neeg yuav xav tau kev hloov ntshav tsis tu ncua thaum lawv laus zuj zus, tab sis qhov kev xav tau no yuav ploj mus thaum lawv laus zuj zus.
• Mitapivat (Pyrukynd®): Qhov no yog ib hom tshuaj tshiab siv los kho Pyruvate Kinase Deficiency thiab Hemolytic Anemia rau cov neeg laus. Lub Koom Haum Saib Xyuas Khoom Noj thiab Tshuaj ntawm Tebchaws Meskas (FDA) tau pom zoo rau nws hauv xyoo 2022.
• Cov Tshuaj Folic Acid Ntxiv: Folic acid yog ib yam khoom noj uas pab lub cev tsim cov qe ntshav liab. Yog tias koj tsis tau txais folic acid txaus los ntawm cov khoom noj uas koj noj, tej zaum koj yuav tsum tau noj cov tshuaj ntxiv.
• Kev Kho Mob Hlau Chelation: Kev muaj hlau ntau dhau tuaj yeem sib sau ua ke hauv lub cev, vim yog tus kab mob nws tus kheej lossis vim yog kev hloov ntshav ntau zaus. Kev kho mob no tshem tawm cov hlau ntau dhau.
• Tshem Tawm Tus Qav (Spleenectomy): Koj tus qav yog qhov chaw uas cov qe ntshav liab tawg khaws cia. Thaum koj muaj Pyruvate Kinase Deficiency, nws tuaj yeem loj dhau. Yog tias qhov no tshwm sim, tus kws kho mob yuav tsum tau tshem nws tawm.
• Tshem Tawm Lub Qog Ntsws (Cholecystectomy): Kev tsis txaus Pyruvate Kinase tuaj yeem ua rau muaj pob zeb hauv lub qog. Yog tias lawv ua rau muaj teeb meem, koj tus kws kho mob yuav pom zoo kom tshem koj lub qog.

Cov kws tshawb nrhiav kuj tseem tab tom tshawb nrhiav cov kev kho mob tshiab, suav nrog:

• Kev Hloov Cov Qog Ntshav: Hauv txoj kev kho mob no, koj tau txais cov qog ntshav los ntawm tus neeg pub dawb. Cov qog ntshav no ces loj hlob mus ua cov qe ntshav liab noj qab nyob zoo.
• Kev Kho Mob Gene: Qhov no suav nrog kev hloov cov gene uas puas lawm uas ua rau Pyruvate Kinase Deficiency nrog cov gene noj qab haus huv.

Thaum twg koj yuav tsum mus ntsib kws kho mob?

Koj yuav tsum tau mus ntsib koj tus kws kho mob ntshav tsis tu ncua kom kuaj xyuas koj cov qe ntshav liab. Lawv kuj tseem yuav kuaj xyuas seb puas muaj teeb meem xws li muaj hlau ntau dhau.

Lawv yuav qhia koj seb koj xav tau kev kho mob tom qab li cas raws li koj tus mob. Yog li ntawd, nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li koj tus kws kho mob cov lus qhia.

Koj tuaj yeem cia siab li cas thaum nyob nrog tus mob no?

Koj qhov kev paub yuav nyob ntawm koj cov tsos mob thiab kev kho mob. Cov teeb meem ntawm pyruvate kinase deficiency (PK Deficiency) kuj tseem tuaj yeem cuam tshuam rau koj qhov kev paub. Tsis tas li ntawd, koj qhov kev paub yuav hloov pauv thoob plaws hauv koj lub neej. Piv txwv li, cov menyuam yaus uas xav tau kev hloov ntshav ntau zaus thaum lawv tseem yog menyuam yaus yuav tsis xav tau lawv thaum lawv laus lawm. Qee tus neeg laus yuav tsis muaj tsos mob kom txog thaum lawv muaj teeb meem kev noj qab haus huv loj.

Koj tus kws kho mob yog tus neeg zoo tshaj plaws los piav qhia txog seb Pyruvate Kinase Deficiency yuav cuam tshuam li cas rau koj txoj kev noj qab haus huv mus sij hawm ntev.

Yog tias koj muaj pyruvate kinase deficiency (PK Deficiency), koj tus kws kho mob yuav saib xyuas koj ze heev. Koj yuav tsum tau kuaj xyuas tsis tu ncua kom paub tseeb tias koj muaj cov qe ntshav liab txaus. Tej zaum koj yuav xav tau kev hloov ntshav kom tiv thaiv kev mob ntshav tsis txaus. Lossis, koj yuav tsis xav tau kev kho mob li. Tsis muaj lus teb meej rau koj qhov kev paub txog tus mob no. Qhov tseem ceeb tshaj plaws yog kom kuaj mob thiab tau txais kev kho mob zoo los ntawm tus kws tshwj xeeb. Koj cov qe ntshav liab yog koj cov ntshav txoj sia. Muaj txaus ntawm lawv yog qhov tseem ceeb rau koj txoj kev noj qab haus huv.

Thaum kawg, nco ntsoov qhov no.

Pyruvate Kinase Deficiency yog ib qho mob nyuaj thiab tej zaum yuav kav ntev mus ib txhis. Tab sis tsis txhob txhawj. Yog tias koj kuaj mob zoo, kho mob, thiab muab lus qhia los ntawm cov kws tshaj lij, koj tuaj yeem nyob nrog tus mob no tau zoo. Yog tias koj lossis ib tus neeg koj paub muaj cov tsos mob no, mus ntsib kws kho mob tam sim ntawd. Nco ntsoov tias, thaum koj kuaj mob sai dua, koj yuav muaj feem tau txais kev kho mob zoo dua thiab txo cov teeb meem. Koj tsis nyob ib leeg, thiab muaj cov kws kho mob thiab cov neeg muab kev pab kho mob los pab koj hauv txoj kev no.

`Pyruvate Kinase Deficiency, cov qe ntshav liab, ntshav tsis txaus, PKLR gene, enzyme, spleen, cov kab mob caj ces