Koj tus me nyuam puas muaj cov tsos mob no? Cia peb tham txog Wiskott-Aldrich Syndrome.

Koj tus me nyuam puas mob txhua lub sijhawm? Puas yog nws muaj teeb meem ntawm daim tawv nqaij xws li eczema, nws puas los ntshav ntau txawm tias yog los ntawm qhov mob me me, lossis nws puas ib txwm mob txhua qhov chaw? Txawm hais tias cov no yuav zoo li ib txwm muaj, qee zaum yuav muaj ib qho mob caj ces tsis tshua muaj uas peb tsis tau hnov ​​​​​​dua txog. Ib qho mob zoo li no yog Wiskott-Aldrich Syndrome. Cia peb tham txog qhov no kom ntxaws me ntsis hnub no.

Tus mob Wiskott-Aldrich Syndrome no yog dab tsi?

Hais yooj yim xwb, qhov no yog ib qho mob caj ces uas tsis tshua muaj . Nws feem ntau cuam tshuam rau koj tus menyuam lub cev tiv thaiv kab mob thiab kev ua haujlwm ntawm qee cov qe ntshav hauv cov ntshav. Qhov no tuaj yeem ua rau muaj ntau yam tsos mob ib zaug. Cov no suav nrog:

• Eczema: Ib qho mob ntawm daim tawv nqaij uas ua rau daim tawv nqaij qhuav, khaus.
• Kev tiv thaiv kab mob tsis zoo: Cov qe ntshav dawb uas tawm tsam kab mob hauv lub cev tsis ua haujlwm zoo.
• Los ntshav thiab mob nqaij: Txawm tias qhov kov me me xwb los kuj tuaj yeem ua rau los ntshav, thiab mob nqaij tuaj yeem tshwm sim rau qee qhov chaw vim muaj teeb meem hauv kev txhaws ntshav.

Qhov mob no qee zaum tuaj yeem ua rau muaj teeb meem loj heev uas yuav ua rau tuag taus. Nws kuj tseem tuaj yeem ua rau koj lub neej luv dua. Txawm li cas los xij, nrog rau kev kho mob tam sim no, cov kev pheej hmoo no tuaj yeem txo qis heev .

Tus mob no feem ntau tshwm sim li cas?

Qhov no yeej tsis tshua muaj . Raws li kev suav lej, kwv yees tias tsuas yog peb ntawm txhua lab tus tub hluas raug mob los ntawm Wiskott-Aldrich Syndrome. Txawm tias nyob hauv lub tebchaws zoo li Asmeskas, muaj tsawg dua 5,000 tus neeg uas muaj tus mob no. Feem ntau nws cuam tshuam rau cov tub hluas , thiab nws tsis tshua muaj rau cov ntxhais mob nws.

Kev mob nkeeg uas cuam tshuam nrog WAS yog dab tsi?

Koj tus kws kho mob kuj tseem yuav hu Wiskott-Aldrich Syndrome ua ib qho kev mob ntsig txog WAS. Qhov no hais txog cov mob uas cuam tshuam rau lub cev tiv thaiv kab mob vim muaj kev hloov pauv hauv WAS gene. Piv txwv li, X-linked thrombocytopenia kuj yog ib qho kev mob ntsig txog WAS.

Txawm li cas los xij, ib qho mob hu ua "congenital neutropenia" yog tshwm sim los ntawm kev hloov pauv caj ces sib txawv, tsis muaj feem cuam tshuam nrog "WAS" gene. Cov kws kho mob tsuas paub qhov mob no tom qab tus menyuam muaj kab mob hnyav.

Cov tsos mob ntawm Wiskott-Aldrich Syndrome yog dab tsi?

Peb twb hais lawm tias muaj peb yam tsos mob tseem ceeb ntawm tus mob no. Cia peb saib lawv kom meej me ntsis.

• Eczema: Qhov no ua rau daim tawv nqaij qhuav thiab khaus heev., qee zaum nws tuaj yeem liab thiab ua pob. Nws zoo li eczema uas qee tus menyuam yaus muaj, tab sis qhov no tuaj yeem hnyav dua me ntsis.

• Kev tiv thaiv kab mob tsis txaus: Qhov mob no tshwm sim thaum cov qe ntshav dawb uas pab kom peb lub cev noj qab haus huv tsis ua haujlwm zoo. Qhov no ua rau lub cev tsis muaj peev xwm tiv thaiv kab mob . Qee zaum lub cev tiv thaiv kab mob tuaj yeem pib tawm tsam nws lub cev. Qhov no tuaj yeem ua rau muaj kev kis kab mob ntau zaus, thiab cov mob xws li mob pob qij txha rheumatoid, vasculitis (mob ntawm cov hlab ntsha ), anemia (ntshav tsawg), leukemia (ib hom mob qog ntshav), lossis lymphoma (ib hom mob qog ntshav ntawm cov qog ntshav).

• Teeb Meem Los Ntshav (Microthrombocytopenia): Qhov no yog thaum cov platelets, uas pab kom cov ntshav khov, txo qis lossis me heev . Qhov tseeb, cov no yog cov cell uas pab kom tsis txhob los ntshav. Yog li thaum cov no tsawg, txawm tias ib qho me me tuaj yeem ua rau los ntshav uas tsis nres. Qhov no tuaj yeem ua rau mob nqaij , ntshav ntswg, qee zaum raws plab ntshav, los ntshav hauv qab daim tawv nqaij (purpura), thiab cov pob liab me me (petechiae) ntawm daim tawv nqaij.

Tsis txhob ntshai tus kab mob no tsuas yog vim koj muaj ib lossis ob yam ntawm cov tsos mob no xwb. Tab sis yog tias cov no tseem muaj, nws yog qhov zoo tshaj plaws mus ntsib kws kho mob.

Cov menyuam mos uas muaj tus kab mob Wiskott-Aldrich syndrome (tsis ua haujlwm) hnyav tshaj plaws kuj tseem yuav muaj cov tsos mob xws li:

• Kab mob eczema
• Kev tiv thaiv kab mob tsis txaus
• Kab mob thrush hnyav heev
• Mob ntsws o

Qee zaum, thaum muaj cov qe ntshav dawb tsis txaus (neutropenia) txij thaum yug los uas yog los ntawm ib lub noob caj noob ces WAS uas ua haujlwm tau zoo (gain-of-function WAS gene), cov kab mob loj heev lossis myelodysplastic syndrome (ib yam kab mob hauv pob txha) tuaj yeem tshwm sim.

Vim li cas ho ua li no?

Qhov ua rau muaj Wiskott-Aldrich Syndrome yog kev hloov pauv caj ces, lossis kev hloov pauv, hauv WAS gene . Cov WAS gene no nyob rau ntawm caj npab luv ntawm peb lub X chromosome. Cov gene no tsim cov protein Wiskott-Aldrich syndrome. Cov protein no muaj nyob rau hauv tag nrho peb cov qe ntshav.

Cov protein Wiskott-Aldrich syndrome no pab peb cov cell lo rau lwm cov cell thiab cov nqaij (kev lo). Qhov kev lo no tseem ceeb heev vim nws pab peb lub cev tiv thaiv kab mob kov yeej cov yeeb ncuab xws li cov kab mob thiab cov kab mob uas nkag mus rau hauv lub cev.

Yog li, yog tias koj muaj kev hloov pauv caj ces hauv koj cov noob 'WAS', koj cov qe ntshav yuav tsis tuaj yeem lo rau lwm cov qe thiab cov nqaij kom zoo. Qhov no yuav tiv thaiv lub cev tiv thaiv kab mob kom tsis txhob ua nws txoj haujlwm kom zoo. Qhov ntawd yog qhov ua rau muaj cov tsos mob ntawm Wiskott-Aldrich Syndrome.

Hauv cov neutropenia uas muaj txij thaum yug los, kev hloov pauv caj ces ua rau ob hom hlwb tsis txav mus los, neutrophils thiab monocytes, tiv thaiv lub cev tiv thaiv kab mob kom tsis txhob tso cov hlwb no tawm los tawm tsam kev kis kab mob.

Qhov no puas yog ib yam dab tsi uas los ntawm ntau tiam neeg los?

Yog, qhov no yog ib qho mob uas tuaj yeem tau txais los ntawm noob caj noob ces. Nws tau txais los ntawm noob caj noob ces hauv tus qauv "X-linked recessive". Qhov no txhais tau tias tus menyuam yuav tsum tau txais kev hloov pauv caj ces los ntawm ob niam txiv.

Peb tau txais peb cov chromosomes poj niam txiv neej los ntawm peb niam peb txiv. Cov txiv neej muaj ib qho 'X' chromosome thiab ib qho 'Y' chromosome. Cov poj niam muaj ob lub 'X' chromosomes. Tus kab mob no cuam tshuam rau cov tub hluas ntau dua, vim tias qhov kev hloov pauv caj ces no cuam tshuam rau kev ua haujlwm ntawm lawv tib lub 'X' chromosome.

Txawm hais tias tus kab mob no muaj tus qauv hauv tsev neeg los xij, ntau dua 30% ntawm cov neeg mob tau mob "de novo" , txhais tau tias nws yog los ntawm kev hloov pauv caj ces tshiab uas tshwm sim thaum cev xeeb tub.

Koj paub qhov no li cas?

Feem ntau tus kws kho mob kuaj pom tias muaj Wiskott-Aldrich Syndrome thaum nws tseem yog menyuam yaus lossis thaum nws tseem yog menyuam yaus . Tus menyuam raug kuaj xyuas thiab ua cov kev kuaj mob tsim nyog. Cov cim qhia thawj zaug ntawm tus mob no yuav yog ntshav hauv cov quav, los ntshav tsis zoo li qub, lossis mob nqaij. Tus kws kho mob yuav ua cov kev kuaj mob hauv qab no kom paub meej tias tus mob yog:

• Kev suav cov ntshav tag nrho (CBC)
• Kev kuaj ntshav caj ces
• Kev kuaj ntshav ntawm cov hlab ntsha sab nraud

Yog tias qhov no tsis raug lees paub thaum yau, cov tsos mob yuav pom tseeb dua thaum yau.

Yog tias koj tus menyuam muaj cov cim qhia tias lub cev tiv thaiv kab mob tsis muaj zog, xws li muaj kev kis kab mob ntau zaus, tej zaum yuav xav tau kev kuaj ntxiv thaum nws tseem yog menyuam yaus. Qhov no yog vim tias lub cev ntawm tus menyuam yuav tsis muaj peev xwm tawm tsam cov kab mob thiab cov kab mob kom zoo, thiab tej zaum yuav tsis teb zoo rau qee cov tshuaj tiv thaiv kab mob.

Tus kws kho mob yuav kuaj ntshav seb koj tus menyuam lub cev puas tsim cov tshuaj tiv thaiv kab mob tom qab txhaj tshuaj tiv thaiv kab mob. Cov tshuaj tiv thaiv kab mob no yog cov uas tsim cov tshuaj tiv thaiv kab mob los tiv thaiv cov kab mob loj. Tsis tas li ntawd, yuav kuaj ntshav ntxiv kom kuaj xyuas koj tus menyuam cov qe ntshav dawb, tshwj xeeb yog cov qe ntshav T thiab cov tshuaj immunoglobulins (uas kuj pab tsim cov tshuaj tiv thaiv kab mob).

Cov kev kho mob rau qhov no yog dab tsi?

Wiskott-Aldrich Syndrome kho tau raws li cov hauv qab no:

• Kho cov kab mobCov tshuaj tua kab mob lossis cov tshuaj tiv thaiv kab mob.
• Cov tshuaj tua kab mob (immunoglobulin) raug muab los kho cov tshuaj tua kab mob uas tau ploj mus lawm.
• Kev hloov ntshav-platelet rau cov teeb meem los ntshav.
• Mob eczema kho tau los ntawm kev siv tshuaj pleev thiab cov tshuaj pleev uas yuav tau yam tsis tas yuav muaj ntawv yuav tshuaj (OTC) .

Yog koj tus menyuam muaj mob lossis kis kab mob, nws tuaj yeem ua rau mob hnyav thiab txawm tias ua rau tuag taus . Txhawm rau tiv thaiv koj tus menyuam lub neej, koj tuaj yeem sim cov kev kho mob no:

• Kev hloov hlwb : Qhov no yuav yog qhov kev daws teeb meem zoo tshaj plaws tam sim no.
• Kev kho mob gene (qhov no tseem nyob rau theem kev tshawb fawb).

Koj tus menyuam tus kws kho mob yuav tham txog cov kev kho mob no nrog koj thiab npaj kev kho mob kom ua tiav cov txiaj ntsig zoo tshaj plaws rau koj tus menyuam thiab txhim kho lawv lub neej zoo.

Yog tias kuv tus menyuam muaj tus mob no, kuv yuav tsum xav li cas?

Yog tias koj tus menyuam muaj Wiskott-Aldrich Syndrome, koj tus kws kho mob yuav tsim ib txoj kev npaj kho mob los pab tiv thaiv cov teeb meem uas yuav ua rau tuag taus vim lawv lub cev tiv thaiv kab mob tsis ua haujlwm zoo. Tom qab kuaj pom tias muaj tus kab mob no, koj yuav raug xa mus rau kev sab laj txog noob caj noob ces . Qhov no tuaj yeem pab koj thiab koj tsev neeg kawm paub ntxiv txog tus mob thiab cov kev xaiv kho mob uas muaj.

Txawm tias cov kab mob thaum yau xws li mob qhua pias kuj tuaj yeem ua rau koj tus menyuam muaj teeb meem kev noj qab haus huv loj heev. Vim tias nws lub cev tiv thaiv kab mob tsis muaj zog npaum li lwm tus menyuam hnub nyoog nws, nws yuav tsum mus ntsib kws kho mob tam sim ntawd. Kev kho cov kab mob thiab kev kis kab mob thaum ntxov tuaj yeem pab koj tau txais txiaj ntsig zoo dua.

Koj tus kws kho mob yuav qhia koj kom tsis txhob muab tshuaj tiv thaiv kab mob uas muaj sia rau koj tus menyuam (xws li tshuaj tiv thaiv mob khaub thuas) vim tias ib hom kab mob uas muaj sia tuaj yeem ua rau koj tus menyuam mob. Txawm tias koj tus menyuam tau txais qee cov tshuaj tiv thaiv kab mob los xij, lawv yuav tsis zoo. Yog tias koj tus menyuam mob los ntawm tus kab mob, kev kho mob thaum ntxov nrog cov tshuaj tiv thaiv kab mob feem ntau ua haujlwm zoo. Tab sis txawm tias cov kab mob uas tshwm sim ntau zaus tuaj yeem ua rau muaj teeb meem.

Tej zaum koj tus menyuam yuav xav tau kev kuaj mob qog noj ntshav tsis tu ncua thoob plaws lawv lub neej vim tias lawv muaj feem yuav mob qog noj ntshav ntau dua, tshwj xeeb yog mob leukemia lossis lymphoma .

Puas muaj kev kho kom zoo tag nrho rau qhov no?

Yog, kev hloov hlwb pob txha (tseem hu ua kev hloov hlwb pob txha) tuaj yeem kho tau Wiskott-Aldrich Syndrome.Cov kev hloov pauv no tshem tawm cov hlwb ntawm lub cev uas tsim cov ntshav thiab hloov lawv nrog cov hlwb noj qab nyob zoo. Vim tias Wiskott-Aldrich Syndrome ua rau cov hlwb ntshav tsis zoo, kev hloov pauv hlwb tuaj yeem hloov cov hlwb ntawd nrog cov hlwb noj qab nyob zoo thiab ua haujlwm tau zoo.

Puas yog Wiskott-Aldrich Syndrome ua rau neeg tuag taus?

Wiskott-Aldrich Syndrome tuaj yeem ua rau tuag taus . Yav dhau los tau tshaj tawm tias cov menyuam yaus uas tsis tau hloov stem cell muaj lub neej ntev li ntawm 15 xyoos. Cov tsos mob los ntawm kev kis kab mob, los ntshav hauv lub hlwb ntawm tus menyuam, kev kis kab mob hnyav lossis mob qog noj ntshav tuaj yeem ua rau tuag taus, thiab kev tuag tuaj yeem tshwm sim sai.

Txawm li cas los xij, nrog kev nce qib ntawm kev tshawb fawb kho mob, cov kev xaiv kho mob tam sim no tau ua rau nws muaj peev xwm txhim kho tus menyuam lub neej yav tom ntej.

Qhov no puas tiv thaiv tau?

Qhov no yog ib qho mob uas muaj los ntawm noob caj ces thiab peb tsis tuaj yeem tiv thaiv tau . Yog tias koj tab tom npaj yuav muaj menyuam thiab xav paub txog koj qhov kev pheej hmoo ntawm kev muaj menyuam uas muaj mob caj ces, nrog koj tus kws kho mob tham txog kev kuaj noob caj ces .

Kuv yuav tsum mus ntsib kuv tus menyuam tus kws kho mob thaum twg?

Yog koj tus menyuam mob thiab tau kuaj pom tias muaj Wiskott-Aldrich Syndrome, hu rau lawv tus kws kho mob tam sim ntawd . Vim tias lawv lub cev tiv thaiv kab mob tsis ua haujlwm zoo, lawv yuav kis tau kab mob ntau zaus. Koj tus kws kho mob tuaj yeem kho tus mob lossis kev kis kab mob, lossis tiv thaiv cov teeb meem uas yuav ua rau tuag taus.

Mus ntsib koj tus kws kho mob yog tias koj tus menyuam muaj ib qho ntawm cov hauv qab no:

• Ntshav hauv cov quav (raws plab ntshav)
• Ntsws ntshav ntau zaus
• Cov cheeb tsam loj ntawm kev raug mob
• Kev hloov pauv rau lawv cov tawv nqaij
• Cov kab mob rov tshwm sim dua (piv txwv li mob qaib ntxhw lossis mob ntsws hnyav, cov kab mob bacterial)

Kuv yuav tsum nug tus kws kho mob li cas?

Koj tuaj yeem nug cov lus nug ntawm tus kws kho mob zoo li no:

• Kuv tus menyuam lub neej ntev npaum li cas?
• Kuv siv tau cov khoom dab tsi los kho kuv tus menyuam tus mob eczema?
• Puas muaj tej yam tshwm sim tsis zoo rau cov kev kho mob uas koj pom zoo?
• Puas yog kuv tus menyuam tsim nyog rau kev hloov pauv stem cell?

Qhov txawv ntawm Wiskott-Aldrich Syndrome thiab Ataxia-Telangiectasia yog dab tsi?

Wiskott-Aldrich Syndrome thiab Ataxia-Telangiectasia yog ob yam mob caj ces uas cuam tshuam rau kev ua haujlwm ntawm lub cev tiv thaiv kab mob.Txawm li cas los xij, ataxia-telangiectasia yog tshwm sim los ntawm kev hloov pauv hauv ATM gene. Nws cuam tshuam rau koj txoj kev txav mus los thiab kev sib koom tes. Nws kuj ua rau cov hlab ntsha tshwm sim zig-zag ntawm koj daim tawv nqaij.

Cov yam tseem ceeb tshaj plaws uas koj yuav tsum nco ntsoov

Kev nrhiav pom tias koj tus menyuam muaj ib qho mob caj ces tsis tshua muaj uas yuav cuam tshuam rau lawv mus tas lawv lub neej tuaj yeem ua rau koj ntxhov siab heev. Nws tuaj yeem ua rau koj xav tsis thoob. Tab sis tsis txhob txhawj. Koj tus menyuam tus kws kho mob yuav qhia koj ntxiv txog qhov mob thiab koj tuaj yeem pab koj tus menyuam li cas hauv tsev. Koj tus menyuam lub cev tiv thaiv kab mob yuav tsis ua haujlwm zoo, yog li lawv yuav mob ntau zaus dua.

Thaum koj saib xyuas koj tus kheej, nws yog ib qho tseem ceeb heev uas koj yuav tsum tau saib xyuas koj tus menyuam. Ntau tus niam txiv thiab tsev neeg pom tias lawv nplij siab thiab txhawb nqa koj thaum koj nrog tus kws pab tswv yim txog kev noj qab haus huv ntawm lub hlwb tham.

Nrog kev nce qib ntawm kev kho mob tam sim no, cov menyuam yaus uas muaj tus mob no tam sim no muaj peev xwm ua neej nyob zoo siab thiab muaj kev zoo siab. Yog li ntawd, nyob twj ywm.

Wiskott -Aldrich syndrome, cov kab mob caj ces, lub cev tiv thaiv kab mob, eczema, los ntshav, kev hloov noob hlwb, kev noj qab haus huv ntawm menyuam yaus