Koj puas muaj ib yam kab mob tsis tshua muaj uas cuam tshuam rau 'cov khoom dawb' ntawm koj lub hlwb? Cia peb tham txog Leukodystrophy!

Koj puas tau hnov ​​​​​​txog lo lus 'Leukodystrophy'? Tej zaum nws yuav zoo li txawv me ntsis thiab nyuaj rau hais, puas yog? Tab sis qhov no yog ib zaj dab neeg txog ib yam kab mob tsis tshua muaj uas cuam tshuam rau peb lub paj hlwb, tshwj xeeb tshaj yog lub hlwb thiab tus txha caj qaum, tab sis nws tseem ceeb heev rau peb txhua tus kom paub txog. Qee zaum peb txhawj xeeb heev yog tias ib tug neeg ze rau peb, ib tug menyuam yaus, muaj tus mob no. Yog li, cia peb tham txog qhov no yooj yim hnub no, hauv txoj kev uas koj tuaj yeem nkag siab.

Qhov leukodystrophy no yog dab tsi?

Hais yooj yim xwb, leukodystrophy yog ib pawg ntawm cov kab mob tsis tshua muaj ntawm lub paj hlwb. Cov hlab ntsha hauv peb lub hlwb thiab cov hlab ntsha qaum (uas zoo li cov xov hluav taws xob) raug ib puag ncig los ntawm ib daim ntaub tiv thaiv, rwb thaiv tsev hu ua myelin . Cov myelin no pab cov xov ntawm cov hlab ntsha mus tau zoo thiab sai. Cov kws kho mob kuj hu cov txheej myelin no ua cov khoom dawb.

Xav txog nws zoo li lub hnab yas uas nyob ib puag ncig ib txoj hlua hluav taws xob. Yog tias lub hnab ntawd puas lawm, hluav taws xob yuav tsis ntws zoo, thiab nws tseem tuaj yeem ua rau 'luv'. Ib yam li ntawd, thaum lub hnab tiv thaiv no hu ua myelin puas lawm, lossis thaum nws tsis tsim zoo, peb cov hlab ntsha tsis tuaj yeem sib txuas lus tau zoo. Cov lus tsis dhau mus zoo. Qhov tshwm sim hauv leukodystrophy yog tias myelin no raug puas tsuaj tas li. Qhov no ua rau lub paj hlwb tsis ua haujlwm zoo. Kev sib txuas lus ntawm lub hlwb thiab lub cev tas li tawg.

Tus mob no feem ntau tshwm sim li cas?

Qhov tseeb, leukodystrophy tsis yog ib yam mob uas pom ntau heev. Txhua hom leukodystrophy yeej tsis tshua muaj. Piv txwv li, hauv Tebchaws Meskas thiab Canada, txhua hom leukodystrophy ua ke cuam tshuam rau ib ntawm 6,000 thiab ib ntawm 100,000 tus menyuam yug los muaj sia. Hauv cov tebchaws Es Xias, qhov tshwm sim tau tshaj tawm tias tsawg li peb ntawm 100,000 tus menyuam yug los muaj sia.

Cov tsos mob ntawm tus kab mob leukodystrophy yog dab tsi?

Qhov no yog qhov nyuaj tshaj plaws. Vim tias cov tsos mob ntawm leukodystrophy tuaj yeem sib txawv heev. Cov tsos mob kuj sib txawv nyob ntawm hom kab mob. Txawm li cas los xij, feem ntau ntawm cov leukodystrophy, muaj kev txo qis ntawm kev ua haujlwm ntawm lub paj hlwb . Qhov no tuaj yeem ua rau muaj ntau yam tsos mob. Tsis yog txhua tus yuav muaj tag nrho cov tsos mob.

Feem ntau, cov mob no tuaj yeem cuam tshuam rau tej yam xws li:

• Kev sib npaug thaum taug kev: Tsis muaj peev xwm taug kev kom raug, ntog ntau zaus.
• Lub Zog: Xav tias koj ob txhais ceg yuav loog, muaj teeb meem nqa lossis tuav khoom.
• Kev paub: Muaj teeb meem kawm, nco qab, thiab tsom ntsoov.
• Kev Noj Mov thiab Nqos: Nyuaj nqos zaub mov, ua rau mob caj pas ntau zaus.
• Hnov Lus: Kev hnov ​​lus tsis zoo.
• Kev txav mus los thiab kev sib koom tes: Tsis muaj peev xwm tswj tau ob txhais ceg kom zoo, nyuaj rau ua haujlwm raws li txoj cai.
• Kev Hais Lus: Hais lus tsis meej, tsis muaj peev xwm hais cov lus kom raug, lossis maj mam poob qhov muaj peev xwm hais lus.
• Kev Pom Kev: Kev pom kev tsis zoo, qee zaum poob tag nrho kev pom kev.

Xav txog nws, yog tias koj yog ib tug menyuam yaus, koj tus menyuam txoj kev loj hlob yuav qeeb dua li lwm tus menyuam. Lawv yuav qeeb dua los kawm tej yam tshiab, ua si, thiab tham. Tag nrho cov no tshwm sim vim tias myelin raug puas tsuaj, thiab cov lus los ntawm lub hlwb mus rau lub cev tsis mus raws li qhov tsim nyog.

Ntau hom kab mob leukodystrophy tseem ceeb

Cov kws tshawb nrhiav tau txheeb xyuas ntau dua 50 hom mob leukodystrophy. Thiab lawv tseem tab tom tshawb pom cov hom tshiab. Txhua hom mob leukodystrophy yog tshwm sim los ntawm kev hloov pauv caj ces sib txawv. Uas yog, kev hloov pauv hauv cov noob caj ces hauv peb lub cev. Tsis tas li ntawd, txhua hom muaj cov tsos mob sib txawv. Lub hnub nyoog ntawm kev pib muaj cov tsos mob kuj txawv ntawm ib hom mus rau ib hom.

Cia peb saib qee cov piv txwv. Vim tias nws yuav siv sijhawm ntev dhau los piav qhia txog txhua hom no, peb tsuas yog yuav tham txog ob peb yam tseem ceeb xwb.

• Adrenoleukodystrophy (ALD): Qhov no cuam tshuam rau cov khoom dawb ntawm lub hlwb thiab tus txha caj qaum, nrog rau cov qog adrenal, uas tswj peb cov tshuaj hormones. Cov tsos mob feem ntau pib thaum yau lossis thaum laus. Tej zaum koj yuav pom tej yam xws li teeb meem kev kawm, kev hloov pauv ntawm kev pom lossis kev hnov, teeb meem kev taug kev, qaug zog, thiab poob phaus.

• Kab mob leukodystrophy autosomal-dominant (ADLD) uas tshwm sim rau cov neeg laus: Qhov no feem ntau tshwm sim rau cov neeg hnub nyoog 40 lossis 50 xyoo. Nws ua rau muaj teeb meem nrog lub zog, kev txav mus los, thiab kev paub. Nws kuj tseem tuaj yeem cuam tshuam rau tej yam xws li ntshav siab thiab lub plawv dhia .

• Kab mob Alexander: Qhov no ua rau cov menyuam yaus muaj kev loj hlob qeeb, qaug dab peg, thiab nyuaj rau kev taug kev. Feem ntau nws cuam tshuam rau cov menyuam mos lossis cov menyuam yaus. Txawm li cas los xij, muaj qee hom kab mob Alexander uas tuaj yeem ua rau muaj cov tsos mob rau cov neeg laus.

• Kab mob Canavan:Hauv qhov no, tus menyuam txoj kev loj hlob kuj qeeb, lub cev qaug zog, nws nyuaj rau nqos zaub mov, qaug dab peg, tus menyuam tsis so, thiab tej zaum yuav muaj kev hloov pauv ntawm qhov muag. Cov tsos mob feem ntau tshwm sim thaum nws tseem yog menyuam yaus. Txawm li cas los xij, muaj qee hom kab mob dev uas qhia cov tsos mob tom qab.

• Kab mob Krabbe: Kuj hu ua globoid cell leukodystrophy . Cov tsos mob feem ntau pib thaum yau. Lawv suav nrog qaug zog, nyuaj rau pub niam mis, tsis nyob twj ywm, loj hlob qeeb, neuropathy ( xeev siab thiab tingling ntawm ob txhais ceg), thiab qaug dab peg. Qee zaum cov tsos mob yuav tshwm sim tom qab hauv lub neej.

• Metachromatic leukodystrophy: Qhov no tuaj yeem tshwm sim rau cov menyuam mos, cov menyuam yaus, lossis cov neeg laus. Nws tuaj yeem ua rau muaj kev hloov pauv hauv kev xav, kev coj cwj pwm, kev pom kev lossis kev hnov ​​​​lus, qaug dab peg, neuropathy, dementia (poob tag nrho cov cim xeeb), thiab dig muag.

Muaj ntau hom kab mob ntxiv, xws li Cerebrotendinous xanthomatosis (CTX) , Childhood ataxia with central nervous system hypomyelination (CACH) (tseem hu ua vanishing white matter (VWM) disease ), Pelizaeus-Merzbacher disease (PMD) (uas feem ntau cuam tshuam rau cov tub hluas), thiab Refsum disease .

Vim li cas leukodystrophy tshwm sim?

Qhov laj thawj tseem ceeb rau qhov no yog kev hloov pauv ntawm cov noob caj noob ces. Uas yog, kev hloov pauv hauv DNA hauv peb lub cev. Cov kev hloov pauv no tshwm sim hauv cov noob caj noob ces uas qhia kev tsim cov ntaub thaiv tiv thaiv no hu ua myelin, lossis nws ua haujlwm li cas. Yog tsis muaj cov ntaub thaiv tiv thaiv no, cov hlwb ntawm cov hlab ntsha yuav tsis ua haujlwm tau zoo.

Cov kev hloov pauv caj ces no qee zaum tuaj yeem tau txais los ntawm niam txiv mus rau lawv cov menyuam. Uas yog, lawv tuaj yeem raug xa mus rau ntau tiam neeg. Txawm li cas los xij, qee zaum cov kev hloov pauv no kuj tuaj yeem tshwm sim yam tsis tau npaj tseg, thaum cov cell loj hlob thiab faib.

Qhov tseem ceeb, qee tus neeg yuav muaj kev hloov pauv ntawm cov noob caj noob ces uas ua rau muaj leukodystrophy tab sis tsis muaj tus kab mob. Peb hu lawv tias yog cov neeg nqa cov noob caj noob ces. Txawm li cas los xij, cov neeg nqa cov noob caj noob ces no tuaj yeem xa cov noob caj noob ces mus rau lawv cov menyuam. Yog tias koj yog tus neeg nqa cov noob caj noob ces uas ua rau muaj leukodystrophy, koj yuav xav xav txog kev sab laj txog noob caj noob ces . Tus kws pab tswv yim txog noob caj noob ces yuav saib koj keeb kwm tsev neeg thiab pab koj txiav txim siab seb koj puas muaj feem yuav xa cov noob caj noob ces mus rau koj cov menyuam.

Puas muaj tej yam uas ua rau muaj kev pheej hmoo no?

Qhov tseeb, tsis muaj tej yam tshwj xeeb uas yuav ua rau mob leukodystrophy tsis tau. Qhov no yog vim nws yog los ntawm noob caj noob ces. Txawm li cas los xij, qee pawg neeg tau pom tias muaj feem yuav mob qee hom mob leukodystrophy ntau dua. Feem ntau hom mob leukodystrophy cuam tshuam rau ob leeg poj niam txiv neej sib npaug. Txawm li cas los xij, qee hom, xws li kab mob Pelizaeus-Merzbacher (PMD), feem ntau cuam tshuam rau cov tub hluas.

Yuav kuaj mob leukodystrophy li cas?

Koj tus kws kho mob yuav xub nug koj txog koj cov tsos mob thiab nug txog koj keeb kwm kev noj qab haus huv ntawm koj tus kheej thiab tsev neeg. Tom qab ntawd lawv yuav kuaj lub cev thiab kuaj lub paj hlwb.

Koj tuaj yeem ua ob peb qhov kev ntsuam xyuas ntxiv:

• Kev kuaj mob rau cov menyuam mos tshiab: Hauv qee lub tebchaws, cov kev kuaj no yog siv los txheeb xyuas qee hom leukodystrophies.
• Kev kuaj ntshav thiab cov qaub ncaug ( kev kuaj noob caj noob ces ): Cov no tuaj yeem nrhiav tau kev hloov pauv noob caj noob ces hauv koj cov DNA.
• Kev kuaj duab: Piv txwv li , kev luam theej duab MRI tuaj yeem ua tau los saib qhov xwm txheej ntawm cov khoom dawb hauv lub hlwb thiab tus txha caj qaum.

Txawm hais tias muaj ntau yam kev kuaj mob no los xij, kev kuaj mob leukodystrophy qee zaum yuav nyuaj vim tias cov tsos mob sib txawv heev. Qee zaum, ntau yam mob leukodystrophy tsis raug kuaj mob.

Cov kev kho mob rau leukodystrophy yog dab tsi?

Qhov no yog qhov tseem ceeb tshaj plaws uas peb txhua tus yuav tsum paub. Tseem tsis tau muaj tshuaj kho tau tus kab mob leukodystrophy. Tab sis qhov ntawd tsis tau txhais hais tias peb ua tsis tau dab tsi li. Muaj ntau yam uas peb ua tau los tswj cov tsos mob, ua kom lub neej yooj yim dua me ntsis, thiab tswj tau qee qhov kev ua haujlwm ntawm lub paj hlwb.

Cov kev kho mob no yuav muaj xws li:

• Tshuaj rau kev qaug dab peg, cov leeg nqaij nruj, thiab teeb meem txav mus los.
• Kev kho mob noj haus los yog siv cov raj pub mis rau kev noj mov thiab kev nqos nyuaj.
• Kev kho mob Hormone rau cov teeb meem nrog kev ua haujlwm ntawm adrenal gland.
• Kev kho lub cev, kev kho mob ua haujlwm, thiab kev kho kev hais lus kom txhim kho cov txuj ci xws li kev taug kev, kev sib npaug, thiab kev hais lus.

Kev kho mob gene yog ib txoj kev kho mob tshiab rau qee hom leukodystrophies. Nws suav nrog kev ntxig cov khoom siv gene rau hauv cov cell kom hloov txoj kev uas lawv tsim cov protein.

Kev hloov hlwb pob txha los yog kev hloov hlwb pob txha tuaj yeem kho cov tsos mob ntawm qee hom leukodystrophy. Txawm li cas los xij, kev kho mob no tsuas yog ua tau zoo rau qee kis xwb. Yog tias kuaj pom tias muaj kab mob cerebrotendinous xanthomatosis (CTX) thaum ntxov, kev kho mob hu ua chenodeoxycholic acid (CDCA) tuaj yeem siv los kho nws.

Tsis tas li ntawd xwb, muaj ntau txoj kev sim tshuaj kho mob uas tab tom ua tam sim no los nrhiav kev kho rau qee hom mob leukodystrophy. Yog li, yog tias koj lossis koj tus menyuam muaj tus mob no, koj tuaj yeem tham nrog koj tus kws kho mob kom paub seb qhov kev kho mob tshiab no puas yog rau koj.

Lub neej cia siab ntev npaum li cas nrog leukodystrophy?

Qhov no yog ib qho teeb meem nyuaj thiab rhiab heev uas yuav tham txog. Leukodystrophy yog ib yam kab mob uas zuj zus tuaj uas ua rau muaj teeb meem nrog lub paj hlwb dhau sijhawm. Muaj ntau tus menyuam yaus uas muaj leukodystrophy tuag ua ntej lawv loj hlob. Txawm li cas los xij, qee tus neeg nyob mus txog thaum laus. Txawm hais tias cov kab mob no feem ntau ua rau tuag taus, kev kho mob tshiab thiab kev sim tshuaj tau coj qee qhov kev cia siab rau cov neeg uas muaj tus mob no.

Tej yam tseem ceeb tshaj plaws uas peb yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Kab mob Leukodystrophy yog ib yam kab mob uas tsis tshua muaj thiab yog los ntawm noob caj ces. Nws ua rau lub hlwb thiab tus txha caj qaum puas tsuaj. Yog tsis muaj myelin, cov hlab ntsha yuav tsis sib txuas lus tau zoo, ua rau muaj ntau yam tsos mob.

Txawm hais tias tseem tsis tau muaj kev kho rau qhov no, muaj cov tshuaj thiab ntau yam kev kho mob los tswj cov tsos mob thiab ua rau lub neej yooj yim dua. Kev tshawb fawb tshiab tau qhia txog cov txiaj ntsig zoo hauv kev kho cov mob no. Nco ntsoov, koj tus menyuam pab pawg kho mob yeej ib txwm nrog koj, muab kev saib xyuas zoo tshaj plaws rau koj tus menyuam. Nws yog ib qho tseem ceeb heev uas yuav tsum tsis txhob ntshai, nrhiav kev pab kho mob thaum ntxov thiab paub cov ntaub ntawv raug.

Cov kab mob Leukodystrophy, myelin, cov khoom dawb, cov kab mob ntawm lub paj hlwb, kev hloov pauv caj ces, cov kab mob rau menyuam yaus, lub paj hlwb