Koj puas muaj teeb meem nrog koj cov ntshav platelets? Cia peb kawm txog 'May-Hegglin Anomaly'!

Koj puas tau hnov ​​txog lub npe 'May-Hegglin Anomaly'? Tej zaum tsis tau. Vim tias qhov no yog ib qho mob tsis tshua muaj, uas yog, ib qho mob caj ces uas pom tsis tshua muaj. Tab sis koj puas yuav tsum ntshai thaum koj hnov ​​lub npe no? Hnub no, cia peb tham txog qhov no yooj yim, hauv txoj kev uas koj tuaj yeem nkag siab. Vim tias kev paub txog qhov no tuaj yeem tseem ceeb heev.

Qhov 'May-Hegglin Anomaly' no yog dab tsi?

Hais yooj yim xwb, May-Hegglin Anomaly yog ib qho mob uas tshwm sim los ntawm kev hloov me me hauv koj cov noob caj noob ces (kev hloov pauv caj ces). Qhov no ua rau koj lub cev tsim cov platelets, uas yog cov qe ntshav me me uas peb hu ua platelets, uas loj me ntsis thiab tsim tsawg dua li lawv yuav tsum tau ua. Qhov kev txo qis ntawm cov platelets no yog hu ua thrombocytopenia.

Tam sim no tej zaum koj yuav xav paub tias muaj dab tsi tshwm sim rau cov ntshav platelets no. Xav txog koj muaj ib qho qhov txhab me me. Tom qab ntawd cov ntshav platelets no pab kom tsis txhob los ntshav. Lawv ua rau cov ntshav txhaws thiab tiv thaiv kom tsis txhob los ntshav. Yog li, ib tus neeg uas muaj 'May-Hegglin Anomaly', vim tias cov ntshav platelets no loj thiab me me tsis zoo li qub, qee zaum tuaj yeem mob lossis los ntshav yooj yim dua li ib tus neeg ib txwm. Cov ntshav ntws zoo li no (uas yog, "kev los ntshav") kuj tseem yuav nce ntxiv tom qab phais loj.

Tiam sis ntawm no yog ib yam uas yuav tsum nco ntsoov: Muaj ntau tus neeg uas muaj tus mob no tsis qhia cov tsos mob dab tsi li. Los yog, nws tsis ua rau muaj teeb meem loj. Tiam sis, txawm tias koj muaj cov tsos mob los tsis muaj, nws yog ib qho tseem ceeb kom paub tias koj muaj May-Hegglin Anomaly. Ces koj thiab koj cov kws kho mob tuaj yeem ua cov kauj ruam tsim nyog los tiv thaiv koj tus kheej ntawm kev raug mob thiab kev los ntshav.

Puas muaj peb yam tseem ceeb uas qhia txog 'May-Hegglin Anomaly'?

Yog, muaj peb yam tseem ceeb uas cov kws kho mob nrhiav kom paub tseeb tias tus mob no yog dab tsi. Qhov no yog qhov peb hu ua 'triad'. Ntawd yog, peb yam ntxwv tshwj xeeb.

Lawv yog:

• Muaj cov platelets loj tsis zoo: Peb hu qhov no ua macrothrombocytopenia.
• Cov ntshav platelet txo qis: Qhov no yog qhov mob uas peb tau tham txog ua ntej hu ua thrombocytopenia.
• Tej zaum koj yuav pom cov qauv me me, zoo li tus pas nrig hu ua Döhle bodies sab hauv koj cov leukocytes, ib hom qe ntshav dawb. Cov Döhle bodies no yog cov tshwj xeeb.

Cov kws kho mob tuaj yeem paub qhov txawv ntawm May-Hegglin Anomaly los ntawm lwm yam kab mob uas cuam tshuam rau cov ntshav platelets los ntawm kev nrhiav peb yam ntxwv no.

Tus mob no muaj ntau npaum li cas? Los yog nws tsis tshua muaj?

Tus mob 'May-Hegglin Anomaly' yog ib qho mob tsis tshua muaj.Raws li cov ntaub ntawv tshawb fawb kho mob, muaj tsawg dua 200 tus neeg mob thoob ntiaj teb. Xav txog seb qhov ntawd yuav tsis tshua muaj li cas! Vim tias nws tsis tshua muaj, cov kws kho mob feem ntau tsis ntseeg thaum xub thawj. Koj tus kws kho mob yuav tsum tshem tawm ntau yam mob uas yuav cuam tshuam rau koj cov ntshav ua ntej xaus lus tias koj muaj May-Hegglin Anomaly.

Cov tsos mob ntawm 'May-Hegglin Anomaly' yog dab tsi?

Raws li peb tau hais ua ntej lawm, feem ntau cov neeg uas muaj tus mob no tsis muaj cov tsos mob loj. Qhov no yog vim lawv muaj cov ntshav platelets txaus hauv lawv lub cev kom tiv thaiv kev los ntshav ntau dhau. Txawm li cas los xij, yog tias koj muaj cov tsos mob, lawv yuav nyob ntawm seb koj cov ntshav platelet qis npaum li cas.

Cov no yog cov tsos mob uas pom tau feem ntau:

• Yooj yim raug mob thiab los ntshav. Hloov xiav txawm tias tom qab muaj ib lub pob me me, lossis siv sijhawm ntev kom tsis txhob los ntshav txawm tias yog qhov txiav me me los xij.
• Ntshav ntswg ntau zaus. Ib txhia neeg hu qhov no ua '(epistaxis)'.
• Cov pos hniav los ntshav. Qhov no tuaj yeem tshwm sim thaum koj txhuam koj cov hniav.
• Rau cov poj niam, los ntshav ntau dhau thaum lub sijhawm muaj hli. Qhov no kuj hu ua '(menorrhagia)'.
• Cov pob liab, xim ntshav, lossis xim av ntawm daim tawv nqaij. Cov no hu ua "purpura".
• Los ntshav ntau tom qab phais mob, thaum rho hniav tawm, lossis tom qab yug me nyuam.

Qhov tseem ceeb yog, tsis txhob ntshai xav tias koj muaj May-Hegglin Anomaly tsuas yog vim koj muaj ib lossis ob qho ntawm cov tsos mob no. Cov no kuj tuaj yeem tshwm sim los ntawm lwm yam mob. Yog li nws yog qhov zoo tshaj plaws los nrhiav kev pab kho mob.

Dab tsi ua rau muaj 'May-Hegglin Anomaly'?

May-Hegglin Anomaly yog ib qho mob caj ces uas koj tau txais los ntawm ib tug ntawm koj niam koj txiv. Peb muaj ib tug gene hu ua 'MYH9' hauv peb lub cev. Nov yog ib qho kev hloov me me uas tshwm sim hauv tus gene 'MYH9' no, uas yog, 'kev hloov pauv', uas yog qhov ua rau qhov no tseem ceeb. Vim yog qhov kev hloov pauv gene no, teeb meem tshwm sim hauv txoj kev uas cov platelets tau tsim. Yog vim li cas lawv thiaj li tsim ua cov duab loj, tsis zoo. Tsis tas li ntawd, vim yog qhov kev hloov pauv gene 'MYH9' no, tus lej ntawm cov platelets kuj txo qis. Yog vim li cas koj thiaj li tuaj yeem mob thiab los ntshav yooj yim.

Peb hu tus qauv kev txais qub txeeg qub teg ntawm May-Hegglin Anomaly ua tus qauv autosomal dominant. Qhov no txhais tau tias koj tsuas yog xav tau ib daim qauv ntawm cov noob MYH9 uas tau hloov pauv kom tau txais tus mob. Qhov no txhais tau tias yog tias koj niam lossis koj txiv muaj qhov kev hloov pauv, koj muaj 50% feem pua ​​​​​​ntawm kev txais qub txeeg qub teg.

Yuav ua li cas thiaj nrhiav tau qhov teeb meem May-Hegglin Anomaly?

Feem ntau, qhov teeb meem May-Hegglin Anomaly raug pom tsis tau thaum lub sijhawm kuaj ntshav ua rau qee qhov laj thawj. Cov kws kho mob xav tias qhov no thaum cov txiaj ntsig ntawm kev kuaj ntshav qhia tias cov ntshav platelet tsawg lossis cov ntshav platelet ntau. Piv txwv li, qhov no tuaj yeem pom txawm tias thaum lub sijhawm kuaj ntshav niaj hnub thaum cev xeeb tub.

Muaj ntau yam kev kuaj uas siv tau los txiav txim siab seb koj puas muaj May-Hegglin Anomaly:

• Kev suav cov ntshav tag nrho (CBC): Qhov kev xeem "(CBC)" no tuaj yeem xyuas seb koj cov ntshav platelet puas tsawg. Hauv qhov xwm txheej no, cov ntshav platelet feem ntau tuaj yeem nyob nruab nrab ntawm 40,000 thiab 80,000 ib microliter ntawm cov ntshav. Qee zaum nws tuaj yeem yog qhov ib txwm muaj. Nco ntsoov, feem ntau peb xav tias "qis" yog tias cov ntshav platelet tsawg dua 150,000 ib microliter ntawm cov ntshav.
• Kev Ntsuas Ntshav Ntawm Sab Nraud (PBS): Qhov kev kuaj PBS no tuaj yeem kuaj xyuas koj cov ntshav platelet. Nws kuj tseem kuaj xyuas seb puas muaj cov qauv zoo li tus pas nrig hu ua Döhle bodies, uas peb tau tham txog ua ntej, hauv koj cov leukocytes.
• Kev kuaj mob caj ces: Qhov kev kuaj no tuaj yeem lees paub seb koj puas muaj kev hloov pauv hauv koj lub noob 'MYH9'.

Ntxiv rau, koj tus kws kho mob yuav nrhiav lwm cov cim qhia tias cov ntshav platelets qis, xws li lub sijhawm los ntshav ntau ntxiv.

Yuav kho tus kab mob May-Hegglin Anomaly li cas?

Qhov tseeb, feem ntau cov neeg uas muaj May-Hegglin Anomaly tsis muaj cov tsos mob hnyav txaus kom xav tau kev kho mob. Qhov ntawd yog qhov kev pab tiag tiag, puas yog? Txawm li cas los xij, yog tias koj yuav tsum tau phais, koj tus kws kho mob yuav tsum tau ceev faj ntxiv kom tiv thaiv kev los ntshav ntau dhau. Piv txwv li, cov tshuaj hu ua desmopressin yuav raug muab rau hauv cov hlab ntsha ua ntej phais kom txo qhov kev pheej hmoo ntawm kev los ntshav, lossis kev hloov ntshav platelet yuav raug muab.

Yog tias koj los ntshav ntau dhau, xws li thaum muaj xwm txheej, koj yuav xav tau kev hloov ntshav platelet kom rov qab tau koj cov ntshav platelet.

Yog tias koj cev xeeb tub, koj yuav tsum tau saib xyuas ntxiv. Feem ntau cov poj niam uas muaj May-Hegglin Anomaly yug tau cov menyuam mos noj qab nyob zoo yam tsis muaj teeb meem dab tsi. Txawm li cas los xij, txhua yam mob uas ua rau muaj kev pheej hmoo ntawm kev los ntshav yog qhov muaj kev pheej hmoo thaum cev xeeb tub. Yog li ntawd, koj tus kws kho mob poj niam thiab kws kho mob poj niam yuav qhia koj txog yam yuav tsum ua kom tiv thaiv koj tus kheej thiab koj tus menyuam hauv plab. Nws yog ib qho tseem ceeb heev uas yuav tsum ua raws li cov lus qhia ntawd.

Yuav tsum xav li cas thaum nyob nrog 'May-Hegglin Anomaly'?

Qhov May-Hegglin Anomaly yog ib qho mob uas yuav tshwm sim mus tas li. Nws yog qhov tseeb.Tiam sis, hmoov zoo, rau feem ntau ntawm cov neeg, qhov no tsis ua rau muaj kev cuam tshuam loj rau lawv lub neej txhua hnub. Muaj ntau tus neeg uas muaj tus mob no tsis muaj tsos mob, lossis tsuas yog muaj tsos mob me me xwb. Yog tias koj cov ntshav platelet qis thiab koj muaj teeb meem, koj tus kws kho mob yuav qhia koj txog txoj hauv kev los tswj kev los ntshav yog tias koj raug mob. Yog li ntawd, tsis muaj dab tsi yuav txhawj txog.

Puas tuaj yeem tiv thaiv tau qhov 'May-Hegglin Anomaly'?

Qhov tseeb, tsis muaj dab tsi koj ua tau los tiv thaiv May-Hegglin Anomaly. Qhov no yog ib qho mob caj ces. Txawm li cas los xij, yog tias koj npaj yuav muaj menyuam, tshwj xeeb tshaj yog tias koj lossis koj tus khub muaj qhov mob no, nws yog ib lub tswv yim zoo los tham nrog tus kws pab tswv yim txog caj ces. Yog tias koj lossis koj tus khub muaj May-Hegglin Anomaly, koj tus menyuam muaj 50% feem pua ​​​​​​ntawm kev tau txais qhov mob no.

Ib tug kws pab tswv yim txog kev hloov pauv caj ces tuaj yeem soj ntsuam txhua yam kev pheej hmoo uas koj muaj thiab muab lus qhia rau koj txog koj cov kev xaiv. Qhov ntawd tuaj yeem pab tau zoo heev.

Kuv yuav saib xyuas kuv tus kheej li cas? (Kev saib xyuas tus kheej)

Yog koj pom tias koj muaj May-Hegglin Anomaly, ib qho zoo tshaj plaws uas koj ua tau yog nrog koj tus kws kho mob tham txog yuav ua li cas tswj tus mob no. Nws yog ib qho tseem ceeb uas yuav tsum paub txog cov no:

• Ceev faj txog cov tshuaj: Qee cov tshuaj tuaj yeem cuam tshuam rau kev ua haujlwm ntawm koj cov ntshav platelets. Yog li, nrhiav seb cov tshuaj twg ua rau koj muaj teeb meem, yuav ua li cas kom tsis txhob noj, lossis yuav ua li cas noj lawv hauv cov koob tshuaj uas muaj kev nyab xeeb. Tsis txhob siv cov tshuaj yam tsis tau nug koj tus kws kho mob.
• Ua kom koj lub qhov ncauj huv si: Kev saib xyuas koj lub qhov ncauj kom huv si yuav pab tiv thaiv kom cov pos hniav tsis los ntshav. Nws tseem yog ib lub tswv yim zoo kom mus ntsib kws kho hniav tsis tu ncua.
• Ceev faj txog tej yam uas ua rau raug mob: Ceev faj heev thaum ua si kis las uas ua rau raug mob (piv txwv li, kis las uas sib chwv). Tej zaum koj yuav tsum zam lawv. Tham nrog koj tus kws kho mob txog qhov no thiab.
• Ceev faj txog cov kev pheej hmoo thaum cev xeeb tub: Txhawm rau kom tsis txhob muaj teeb meem thaum koj cev xeeb tub vim yog 'May-Hegglin Anomaly', saib xyuas koj txoj kev noj qab haus huv thiab ua haujlwm ze nrog koj tus kws kho mob poj niam thiab kws kho mob poj niam.

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Nov yog qee cov lus nug uas koj yuav tsum nug koj tus kws kho mob yog tias koj pom tias koj muaj May-Hegglin Anomaly:

• "Kws kho mob, kuv cov ntshav platelet tsis txaus (thrombocytopenia) hnyav npaum li cas?"
• "Thaum twg kuv thiaj yuav tsum txhawj txog kuv cov ntshav platelet poob qis?"
• Kuv yuav tsum tau saib xyuas cov tsos mob twg tshwj xeeb?
• Kuv yuav tsum hloov dab tsi hauv kuv lub neej txhua hnub kom tswj tau qhov teeb meem no?
• "Puas yog lub tswv yim zoo rau kuv tus khub thiab kuv kom tau txais kev pab tswv yim txog noob caj noob ces?"

Tsis txhob ntshai nug cov lus nug zoo li no. Nws yog ib qho tseem ceeb heev uas yuav tsum daws txhua yam kev tsis ntseeg uas koj muaj.

Puas muaj lwm yam kab mob uas cuam tshuam nrog tus gene 'MYH9'?

Yog lawm, May-Hegglin Anomaly yog ib pawg kab mob uas muaj feem cuam tshuam nrog MYH9 gene. Tag nrho cov kab mob no yog tshwm sim los ntawm kev hloov pauv hauv MYH9 gene. Kev tshawb fawb tau pom tias, ntxiv rau May-Hegglin Anomaly, peb lwm yam mob uas ua rau cov ntshav platelets tsis zoo thiab cov ntshav platelets qis kuj yog tshwm sim los ntawm kev hloov pauv hauv MYH9 gene. Peb lwm yam yog:

• Epstein syndrome
• Fechtner syndrome
• Sebastian syndrome

Vim tias tag nrho cov kab mob no muaj feem cuam tshuam nrog ib leeg, thiab vim tias lawv txhua tus muaj tib qho laj thawj, nws muaj peev xwm hais tias dhau sijhawm cov npe sib cais no yuav ploj mus, thiab tag nrho lawv yuav raug hu ua "MYH9-related disorders."

Yog li ntawd, qhov tseem ceeb tshaj plaws uas peb yuav tsum nco ntsoov los ntawm zaj dab neeg no yog dab tsi? (Cov Lus Coj Mus Tsev)

May-Hegglin Anomaly yog ib qho mob uas muaj cov platelets loj thiab cov platelets tsawg. Txawm li cas los xij, nws tsis tas txhais tau tias koj yuav muaj teeb meem loj. Nrog rau qhov mob no, ntau yam nyob ntawm seb koj cov platelets tsawg npaum li cas. Feem ntau cov neeg uas muaj qhov mob no muaj cov platelets txaus los tiv thaiv kev los ntshav loj. Lwm tus yuav muaj kev pheej hmoo los ntshav ntau dhau.

Yog li ntawd, qhov tseem ceeb tshaj plaws yog nrog koj tus kws kho mob tham, nkag siab meej txog cov kev ceev faj uas koj yuav tsum ua kom txo tau koj txoj kev pheej hmoo ntawm kev los ntshav, thiab ua raws li qhov ntawd. Qhov tseem ceeb tshaj plaws yog tsis txhob ntshai, kom paub txog, thiab ua raws li cov lus qhia ntawm kws kho mob. Xav kom koj noj qab nyob zoo!

` May-Hegglin Anomaly, platelets, thrombocytopenia, MYH9 gene, los ntshav, cov kab mob caj ces, cov kab mob ntshav