Koj puas yooj yim raug mob? Koj puas tsis yooj yim los ntshav? Cia peb tham txog Glanzmann Thrombasthenia (GT)!

Koj lossis koj tus menyuam puas siv sijhawm ntev heev los ntshav txawm tias yog qhov txiav me me xwb los xij? Los yog koj tsuas muaj cov pob xiav (mob) thoob plaws koj lub cev xwb? Qee zaum cov no zoo li qub, tab sis qee zaum lawv tuaj yeem yog qee yam uas yuav tsum txhawj xeeb txog. Qhov ntawd yog tus mob uas peb yuav tham txog hnub no, hu ua Glanzmann Thrombasthenia (GT). Tsis txhob txhawj, peb yuav ua kom txhua yam yooj yim.

Glanzmann Thrombasthenia (GT) yog dab tsi?

Hais yooj yim xwb, Glanzmann Thrombasthenia (GT) yog ib qho mob uas kav ntev (piv txwv li mus tas ib sim neej) uas ua rau koj mob yooj yim thiab nyuaj rau tso ntshav. Qhov ua rau mob yog teeb meem nrog cov platelets hauv peb cov ntshav, cov qe ntshav me me uas pab cov ntshav txhaws.

Xav txog seb, yog tias koj muaj GT, vim muaj kev hloov pauv caj ces hauv koj lub cev, cov platelets no tsis tsim cov protein tseem ceeb uas xav tau rau kev txhaws ntshav. Vim li no, kev txhaws ntshav tshwm sim qeeb heev. Qhov tshwm sim yog tias koj los ntshav ntau. Qhov ntau ntawm qhov kev los ntshav no tuaj yeem sib txawv ntawm ib tus neeg mus rau ib tus neeg. Rau qee tus neeg, qhov no yuav yog kev los ntshav me me uas tuaj yeem tswj tau hauv tsev. Rau lwm tus , nws yuav hnyav txaus kom xav tau kev kho mob ceev .

Glanzmann Thrombasthenia (GT) muaj ntau npaum li cas?

Glanzmann Thrombasthenia (GT) yog ib qho mob tsis tshua muaj. Raws li cov kws kho mob hais, tsuas yog ib tug ntawm ib lab tus tib neeg thoob ntiaj teb yug los muaj tus mob no.

Txawm li cas los xij, hauv qee lub zej zog uas qhov kev hloov pauv caj ces no tau dhau los ntawm ib tiam mus rau ib tiam, tus lej no siab dua me ntsis. Uas yog, hauv cov zej zog zoo li no, kwv yees li ib ntawm txhua ob puas txhiab tus neeg tuaj yeem pom qhov mob no. Nws tau tshaj tawm tias tus lej ntawm cov menyuam mos yug los nrog qhov mob GT no yog siab tshwj xeeb hauv qee lub tebchaws hauv Middle East, hauv cov xeev Newfoundland thiab Labrador hauv Canada, thiab ntawm cov zej zog Romani hauv Fabkis.

Cov tsos mob ntawm Glanzmann Thrombasthenia (GT) yog dab tsi?

Yog koj muaj GT, koj yuav los ntshav ntau dua li lwm tus neeg yog tias lawv raug mob tib yam. Los yog koj yuav pib los ntshav tsis tau xav txog thiab tsis muaj laj thawj pom tseeb.

Cov tsos mob tseem ceeb ntawm Glanzmann Thrombasthenia (GT) yog:

• Qhov mob yooj yim heev: Txawm tias yog lub pob me me tuaj yeem ua rau muaj qhov mob loj.
• Cov pos hniav los ntshav: Koj cov pos hniav tuaj yeem los ntshav yooj yim thaum koj txhuam koj cov hniav.
• Ntsws ntshav ntau zaus (epistaxis): Qee tus neeg yuav muaj ntswg ntshav ntau zaus hauv ib lub lim tiam, txawm tias tsuas yog sawv ntsug xwb.
• Cov pob liab los yog cov thaj ua rau ntawm daim tawv nqaij (purpura): Cov no txawv ntawm cov qhov txhab ib txwm thiab tuaj yeem yog cov pob loj dua.
• Cov pob me me xim av, xim av, lossis xim liab ntawm daim tawv nqaij (petechiae): Cov no yog cov pob me me uas zoo li lawv raug chob los ntawm rab koob.
• Menorrhagia: Los ntshav ntau dhau thaum lub sijhawm muaj hli rau cov poj niam: Los ntshav hnyav dua li qub.

Hauv GT, kev los ntshav sab hauv tsis tshua muaj ntau dua li kev los ntshav ntawm qhov txhab ntawm daim tawv nqaij (xws li qhov txiav) lossis cov ntaub so ntswg (xws li sab hauv ntawm lub qhov ntswg lossis qhov ncauj).

Vim li cas thiaj muaj tus mob Glanzmann Thrombasthenia (GT)? Dab tsi yog cov ua rau muaj?

Cov menyuam mos uas yug los muaj Glanzmann Thrombasthenia (GT) tau txais qhov tsis zoo, lossis kev hloov pauv , hauv cov noob caj noob ces uas ua rau cov protein hu ua integrin alpha IIb/beta 3, uas pab cov ntshav txhaws. Yuav kom tsim tau GT, tus menyuam yuav tsum tau txais cov noob caj noob ces tsis zoo los ntawm lawv niam thiab txiv. Qhov no hu ua autosomal recessive inheritance .

Feem ntau, cov niam txiv tsis paub tias lawv yog cov neeg nqa cov noob caj noob ces tsis zoo no. Qhov no yog vim tias xav tau ob lub noob caj noob ces tsis zoo kom pom cov tsos mob. Tus neeg nqa cov noob caj noob ces yog ib tus neeg uas muaj ib lub noob caj noob ces zoo li qub thiab ib lub noob caj noob ces tsis zoo.

Yog tias ob leeg niam txiv yog cov neeg nqa kab mob GT, lawv muaj 25% feem pua ​​​​​​ntawm kev muaj menyuam uas muaj GT.

Tom qab ntawd Glanzmann Thrombasthenia (GT) pib tshwm sim

Muaj ib txhia neeg uas muaj mob GT thaum lawv tseem hluas. Qhov no tsis tshua muaj. Txawm hais tias nws tuaj yeem tshwm sim los xij, cov kws kho mob tseem suav tias Glanzmann Thrombasthenia (GT) yog ib qho mob ntshav uas los ntawm lawv tus kheej .

Qhov no yog li cas GT tsim tawm tom qab, thaum koj lub cev tsim cov tshuaj tiv thaiv kab mob tawm tsam cov protein integrin alpha IIb/beta 3 uas tau hais los saum toj no. Qee yam kab mob, txawm tias qee cov tshuaj, tuaj yeem ua rau qhov no. Tab sis qhov tshwm sim yog tib yam. Vim tias tsis muaj cov protein nquag txaus, nws siv sijhawm ntev dua rau koj cov platelets kom clot.

Cov teeb meem uas yuav muaj tau los ntawm Glanzmann Thrombasthenia (GT) yog dab tsi?

Cov poj niam muaj peev xwm muaj mob ntshav tsis txaus vim yog tsis muaj hlau txaus vim yog los ntshav ntau thaum lub sijhawm hli. Hauv cov xwm txheej hnyav, GT tuaj yeem ua rau los ntshav hnyav, uas ua rau tuag taus (los ntshav). Qhov kev pheej hmoo no yog siab heev thaum lub sijhawm los ntshav ntau , xws li yug menyuam lossis phais.

Tiamsis tsis txhob txhawj, yog tias koj raug kuaj pom tias muaj GT, koj tus kws kho mob tuaj yeem ua cov kauj ruam tsim nyog los tiv thaiv cov teeb meem no.

Koj paub tseeb li cas tias koj muaj Glanzmann Thrombasthenia (GT)? (Kuaj mob)

Cov kws kho mob siv ntau yam kev kuaj mob los kuaj mob GT. Feem ntau kuaj pom thaum yau. Ua ib tug niam txiv, yog tias koj tus menyuam mob yooj yim, ntshav ntswg ntau zaus, lossis siv sijhawm ntev kom tsis txhob los ntshav, koj yuav xav coj koj tus menyuam mus ntsib kws kho mob. Qee zaum, thaum lub sijhawm tseem ceeb hauv lub neej ntawm tus menyuam, piv txwv li:

• Thaum cev xeeb tub.
• Thaum cov hniav menyuam thawj zaug poob tawm.
• Yog tias nws yog ib tug ntxhais, nws yog thaum nws mus txog nws thawj zaug muaj hli (menarche).

Lub sijhawm no, koj yuav pom tias los ntshav ntau dhau lossis los ntshav tas li. Ntau tshaj 80% ntawm cov neeg uas muaj Glanzmann Thrombasthenia (GT) raug kuaj pom ua ntej hnub nyoog 14 xyoos, thiab ntau tus raug kuaj pom ua ntej hnub nyoog 5 xyoos. Cov neeg uas raug kuaj pom tias muaj GT thaum lawv laus yuav tsis paub tias lawv muaj nws kom txog thaum lawv raug mob hnyav lossis raug xwm txheej.

Yuav ua li cas thiaj kuaj tau qhov no?

Cov kws kho mob siv cov kev kuaj ntshav los kuaj mob Glanzmann Thrombasthenia (GT). Cov kev kuaj no tuaj yeem qhia txog teeb meem nrog:

• Koj cov platelets: Kev kuaj ntshav tag nrho (CBC) tuaj yeem xyuas seb koj cov platelets puas yog ib txwm muaj. Kev kuaj ntshav ntawm cov hlab ntsha sab nraud kuj tseem tuaj yeem xyuas seb lawv puas zoo li txawv txav.
• Koj cov ntshav txhaws zoo npaum li cas: Muaj ntau yam kev kuaj, xws li kev kuaj Prothrombin Time (PT) thiab kev kuaj Partial Thromboplastin Time (PTT), tuaj yeem ntsuas tau tias koj cov ntshav txhaws sai thiab zoo npaum li cas. Cov no kuj tseem tuaj yeem pab tshem tawm cov kab mob ntshav uas muaj ntau dua uas muaj cov tsos mob zoo ib yam li GT (piv txwv li, kab mob von Willebrand, Bernard-Soulier syndrome).
• Integrin alpha IIb/beta3: Cov kev kuaj xws li flow cytometry thiab monoclonal antibody panels tuaj yeem qhia tau tias koj puas muaj qhov tsis txaus lossis qhov tsis zoo hauv cov protein no. Lawv kuj tuaj yeem ntes tau seb koj puas muaj cov tshuaj tiv thaiv kab mob uas tawm tsam cov protein no.
• Koj cov noob caj noob ces: Kev kuaj noob caj noob ces tuaj yeem lees paub seb koj puas muaj cov kev hloov pauv noob caj noob ces (cov noob hu ua 'ITGA2B' thiab 'ITGB3') uas ua rau GT.

Cov kev kho mob rau Glanzmann Thrombasthenia (GT) yog dab tsi?

Yog tias koj raug kuaj pom tias muaj GT, koj tus kws kho mob yuav qhia koj txog yuav ua li cas kom txo tau koj txoj kev pheej hmoo ntawm kev los ntshav. Tej zaum koj yuav tsum tau ua haujlwm nrog tus kws kho mob ntshav . Dua li ntawm tej yam uas koj ua tau los tiv thaiv kev los ntshav, kev kho mob yuav nyob ntawm seb koj cov ntshav hnyav npaum li cas.

Rau kev los ntshav me me mus rau nruab nrab

Cov kev kho mob rau cov xwm txheej zoo li no yog:

• Kev Nias: Koj tus kws kho mob yuav qhia koj yuav ua li cas nias kom txo qhov ntshav ntawm qhov txhab thiab tiv thaiv qhov ntswg me me. Yog tias qhov ntswg los ntshav hnyav, koj tus kws kho mob yuav muab ib yam dab tsi zoo li daim ntaub qhwv lossis ua npuas ncauj rau hauv koj lub qhov ntswg kom tiv thaiv qhov ntshav (qhov ntswg kaw).
• Cov Tshuaj: Tej zaum koj yuav xav tau cov tshuaj xws li fibrin sealant (ib yam dab tsi zoo li cov kua nplaum ntshav), gelatin ua npuas ncauj, tshuaj pleev rau cov ntshav txhaws, thiab cov tshuaj antifibrinolytic los pab cov ntshav txhaws.

Rau kev los ntshav hnyav

Kev los ntshav hnyav uas tshwm sim los ntawm Glanzmann Thrombasthenia (GT) yuav tsum tau kho mob ceev . Kev kho mob suav nrog:

• Kev hloov ntshav platelet: Tej zaum koj yuav tsum tau muab cov platelets rau koj kom tsis txhob los ntshav hnyav, lossis kom tiv thaiv kev poob ntshav ua ntej phais loj lossis yug menyuam. Qhov no suav nrog kev muab cov platelets rau koj los ntawm tus neeg pub dawb uas noj qab nyob zoo.
• Kev txhaj ntshav liab: Yog tias koj twb poob ntshav ntau lawm, koj kuj tuaj yeem tau txais cov ntshav liab los ntxiv rau qhov ntau ntawd.
• Recombinant coagulation factor VIIa (rFVIIa): Cov tshuaj no yuav tsum tau siv yog tias koj tsis haum rau kev hloov ntshav platelet.
• Kev hloov hlwb ntawm cov qe ntshav: Kev hloov hlwb yog tib txoj kev kho mob uas yuav kho tau GT. Qhov no yuav yog ib txoj kev xaiv rau cov mob hnyav ntawm GT uas tsis tuaj yeem tswj tau los ntawm lwm txoj kev. Hauv qhov no, cov hlwb ntawm tus neeg pub dawb raug txhaj rau hauv koj lub cev.

Puas muaj teeb meem dab tsi thaum kho mob?

Yog, muaj tseeb tiag. Nruab nrab ntawm 20% thiab 30% ntawm cov neeg uas tau txais cov ntshav platelets tsim cov tshuaj tiv thaiv kab mob tawm tsam lawv dhau sijhawm. Qhov no txhais tau tias cov ntshav platelets tshiab uas lawv tau txais yuav tsis ua haujlwm. Yog tias qhov ntawd tshwm sim, koj yuav tsum mus rau lwm txoj kev kho mob, xws li kev txhaj tshuaj rFVIIa. Tab sis cov tshuaj ntawd kuj muaj qee qhov kev pheej hmoo. Piv txwv li, nws tuaj yeem ua rau koj cov ntshav txhaws ntau dhau.

Txawm hais tias kev hloov noob hlwb tuaj yeem kho tau Glanzmann Thrombasthenia (GT), kev nrhiav tus khub rau koj lub cev tuaj yeem yog ib qho nyuaj. Hauv kev hloov noob hlwb rau GT, cov neeg pub feem ntau yog cov kwv tij neej tsa. Txawm tias pom tus khub, muaj kev pheej hmoo tias koj lub cev yuav tsis lees txais cov noob hlwb pub. Qhov mob no hu ua Graft versus Host Disease (GvHD) .

Thaum koj tus kws kho mob nrog koj tham txog cov kev xaiv kho mob, nws yuav piav qhia txog cov kev pheej hmoo thiab cov txiaj ntsig ua ntej.

Ib tug neeg uas muaj GT yuav cia siab tau yav tom ntej zoo li cas?

Tsis muaj ob tug neeg uas muaj tus kab mob Glanzmann Thrombasthenia (GT), txawm tias lawv yog los ntawm tib tsev neeg thiab muaj tib qho kev hloov pauv caj ces, yuav muaj tus kab mob sib txawv. Koj los ntshav ntau npaum li cas thiab koj yuav tsum ua li cas los tswj koj tus mob yuav nyob ntawm koj tus mob tshwj xeeb.

Qhov xov xwm zoo yog tias, yog tias tswj tau zoo, feem ntau cov neeg uas muaj Glanzmann Thrombasthenia (GT) yuav ua neej nyob li qub thiab muaj sia nyob li qub. Qee zaum, qhov ntshav ntws yuav txo qis thaum lawv laus zuj zus.

Kuv yuav ua li cas thiaj nyob tau zoo nrog GT? (Yuav ua li cas thiaj saib xyuas kuv tus kheej)

Yog koj muaj GT, nrog koj tus kws kho mob tham kom txo tau qhov kev pheej hmoo ntawm kev los ntshav thiab kev tsis muaj zog ntawm cov ntshav. Koj yuav tsum ua cov no:

• Paub meej tias cov tshuaj twg koj yuav tsum tsis txhob noj.Tsis txhob noj cov tshuaj uas ua rau cov ntshav nyias (xws li aspirin thiab lwm yam NSAIDs) thiab lwm yam tshuaj uas koj tus kws kho mob tau hais kom koj tsis txhob noj.
• Saib xyuas koj txoj kev noj qab haus huv hauv qhov ncauj. Txhuam hniav thiab siv xov paj ntxuav koj cov hniav txhua hnub, thiab mus ntsib koj tus kws kho hniav tsis tu ncua tuaj yeem pab txo qhov kev pheej hmoo ntawm cov pos hniav los ntshav.
• Saib xyuas koj lub qhov ntswg kom zoo thiab. Kev ua kom sab hauv ntawm koj lub qhov ntswg noo tuaj yeem pab txo qhov kev pheej hmoo ntawm kev los ntshav ntswg. Koj tuaj yeem siv lub tshuab ua kom noo noo, siv tshuaj tsuag rau qhov ntswg, lossis muab me ntsis Vaseline rau hauv koj lub qhov ntswg kom tiv thaiv nws kom tsis txhob qhuav.
• Tswj kev los ntshav ntau zaus hauv lub hlis. Kev siv cov tshuaj hormones tswj kev yug menyuam tuaj yeem pab tiv thaiv kom tsis txhob muaj hnub los ntshav ntau zaus. Tham nrog koj tus kws kho mob poj niam txog qhov no.
• Hnav lub kauj tes ceeb toom txog kev kho mob. Nqa daim npav ID nrog koj tas li kom koj thiaj li paub tias koj muaj teeb meem ntshav thaum muaj xwm txheej ceev. Qhov no yuav cawm tau koj txoj sia.
• Npaj ib txoj kev npaj rau yam koj yuav ua yog tias koj muaj teeb meem los ntshav. Paub thaum twg yuav kho nws hauv tsev thiab thaum twg yuav mus ntsib kws kho mob tam sim ntawd. Paub tias yuav tham nrog leej twg thiab yuav mus qhov twg. Ua li ntawd, nws yuav tsis lig dhau los kho.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog koj lossis koj tus menyuam muaj cov cim qhia tias nws yooj yim los ntshav, mus ntsib kws kho mob. Kev mob nqaij thiab ntshav ntswg yog ib qho uas tshwm sim ntau zaus. Tab sis yog tias cov tsos mob no tshwm sim ntau zaus, lossis yog tias cov ntshav siv sijhawm ntev kom tsis txhob los ntshav - mus ntsib kws kho mob.

Thaum twg koj yuav tsum mus rau Chav Kho Mob Thaum Muaj Xwm Ceev (ETU) ?

Yog koj los ntshav uas koj tsis tuaj yeem nres, suav nrog kev los ntshav ntau thaum muaj hli, mus rau chav kho mob ceev (ETU) yam tsis tau teem sijhawm mus ntsib kws kho mob. Cov cim qhia uas yuav tsum tau ceev faj suav nrog:

• Ntshav ntswg uas tsis tu li ib teev.
• Kev coj khaub ncaws hnyav ntev li ob teev lossis ntau dua, ntub ob lub tampons lossis ob daim ntaub so hauv ib teev lossis ntau dua.

Cov lus nug tseem ceeb uas yuav tsum nug koj tus kws kho mob

Tsis txhob hnov ​​qab nug cov lus nug zoo li no:

• Yuav tsum tau ua cov kev kuaj mob twg los kuaj xyuas kuv tus mob?
• Kuv xav tau kev kho mob hom twg?
• Kuv yuav ua tau dab tsi los hloov kuv txoj kev ua neej kom tswj tau kuv tus mob?
• Muaj feem ntau npaum li cas uas kuv tus menyuam yuav tau txais tus mob GT no?
• Koj puas pom zoo kom kuaj noob caj noob ces yog tias kuv xav xeeb tub?

Cov neeg uas muaj GT puas suav cov platelets zoo li qub?

Feem ntau cov platelet suav yog ib txwm muaj nyob rau hauv Glanzmann Thrombasthenia (GT).Qhov teeb meem tsis yog tus naj npawb ntawm cov platelets. Hloov chaw, nws yog teeb meem nrog cov protein uas pab cov platelets lo ua ke, uas tiv thaiv cov platelets kom tsis txhob txhaws tau zoo.

Qhov txawv ntawm Glanzmann Thrombasthenia (GT) thiab Bernard-Soulier syndrome (BSS) yog dab tsi?

Glanzmann Thrombasthenia (GT) thiab Bernard-Soulier syndrome (BSS) yog ob yam mob caj ces uas tsis tshua muaj uas cuam tshuam rau txoj kev uas koj cov ntshav txhaws. Tab sis lawv yog tshwm sim los ntawm kev hloov pauv ntawm cov noob caj ces sib txawv. Cov teeb meem tshwj xeeb nrog koj cov ntshav platelets kuj txawv. Cov neeg uas muaj BSS tej zaum yuav muaj cov ntshav platelets tsawg thiab cov ntshav platelets loj tsis zoo.

Cov lus tseem ceeb tshaj plaws uas yuav tsum nco ntsoov los ntawm qhov peb tau tham txog (Cov Lus Coj Mus Tsev)

Glanzmann Thrombasthenia (GT) yog ib qho mob uas yuav tsum tau kho mus ib txhis uas koj thiab koj tus kws kho mob ntshav yuav tsum tau saib xyuas zoo. Nrog GT, tsis muaj ib txoj hauv kev los kwv yees seb koj cov ntshav yuav hnyav npaum li cas (lossis me npaum li cas). Txawm li cas los xij, kev ua cov kauj ruam los txo koj cov ntshav yuav pab kom koj noj qab nyob zoo. Yog tias koj GT hnyav heev, kev kho mob xws li kev hloov ntshav platelet kuj tseem yuav pab tau.

Txawm hais tias koj tswj tsis tau qhov yug los nrog tus mob no los xij, nco ntsoov tias koj muaj kev xaiv los tswj nws hauv txoj kev uas tsis cuam tshuam rau koj lub neej zoo. Tsis txhob ntshai nrhiav kev pab kho mob thiab saib xyuas koj tus kheej. Yog li ntawd koj yeej tuaj yeem nyob zoo nrog tus mob no.

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