Koj tus menyuam puas muaj tus mob no tsawg tsawg? Cia peb kawm txog Shwachman-Diamond syndrome (SDS)

Koj tus me nyuam puas mob tas li? Tsis hnyav zuj zus? Los yog koj puas pom muaj kev hloov pauv hauv lawv cov pob txha? Qee zaum, qhov no yuav yog vim muaj tus kab mob Shwachman-Diamond syndrome (SDS), uas yog ib qho mob caj ces tsis tshua muaj uas cuam tshuam rau cov menyuam yaus. Cia peb tham txog qhov no hauv txoj kev yooj yim uas koj tuaj yeem nkag siab.

Shwachman-Diamond syndrome (SDS) yog dab tsi?

Hais yooj yim xwb, Shwachman-Diamond syndrome (SDS) yog ib qho mob caj ces tsis tshua muaj uas feem ntau cuam tshuam rau lub txiav, pob txha, thiab pob txha ntawm cov menyuam yaus. Feem ntau kuaj pom ua ntej tus menyuam muaj ib xyoos. Txawm li cas los xij, qee zaum kuaj pom tau rau cov tub ntxhais hluas.

Kab mob SDS yog ib yam kab mob uas nyuaj rau kuaj mob thiab kho vim nws ua rau muaj ntau yam tsos mob. Ib tug me nyuam yuav muaj ib, ntau yam, lossis tag nrho cov tsos mob no. Piv txwv li, ib tug me nyuam yuav muaj teeb meem nrog lub txiav thiab pob txha, thaum lwm tus me nyuam tsuas muaj teeb meem nrog cov pob txha thiab pob txha xwb.

Nws kuj yog ib yam kab mob uas tsis paub tseeb tias yuav muaj li cas . Cov tsos mob ntawm cov menyuam yaus yuav tsis hnyav heev. Cov tsos mob no yuav hloov pauv raws sijhawm. Vim tias cov menyuam yaus uas muaj SDS muaj ntau yam teeb meem kev kho mob, ntau tus menyuam yaus xav tau kev pab los ntawm pab pawg kws tshwj xeeb . Txawm hais tias cov menyuam yaus uas muaj tus mob no yuav xav tau kev kho mob mus tas li, feem ntau lawv tuaj yeem ua neej nyob li qub. Txawm li cas los xij, qee tus menyuam yaus thiab cov tub ntxhais hluas tuaj yeem muaj mob qog ntshav uas ua rau tuag taus (Acute Myeloid Leukemia) lossis mob ntshav loj heev (Myelodysplasia).

Qhov no puas yog ib qho mob uas neeg feem ntau muaj?

Nyuaj hais kom meej. Cov kws kho mob suav tias Shwachman-Diamond syndrome yog ib yam mob tsis tshua muaj. Tab sis tsuas muaj kev kwv yees kwv yees tias muaj pes tsawg tus menyuam muaj tus mob no. Qee qhov kev kwv yees kwv yees tias tus mob no muaj ib tus ntawm txhua 75,000 tus menyuam yug los . Qhov laj thawj rau qhov kev kwv yees kwv yees no yog tias cov menyuam yaus tuaj yeem muaj cov tsos mob me me lossis hnyav, tsis yog txhua tus menyuam muaj cov tsos mob zoo ib yam, thiab tsis muaj ib qho kev kuaj mob kom paub tseeb tias tus mob no yog dab tsi.

Cov neeg laus puas muaj tus mob Shwachman-Diamond syndrome (SDS) thiab?

Tsis zoo li qee yam teeb meem kev kho mob thaum yau, Shwachman-Diamond syndrome tsis ploj mus thaum cov menyuam loj hlob tuaj. Cov tsos mob thiab kev kho mob yuav hloov pauv raws sijhawm, tab sis cov menyuam uas muaj tus mob no yuav xav tau kev kho mob mus tas li .

Qhov mob no cuam tshuam li cas rau kuv tus menyuam lub cev?

Kab mob Shwachman-Diamond syndrome ua rau muaj ntau yam teeb meem kev kho mob, tab sis muaj peb yam tseem ceeb uas ua rau mob:

1. Kev tsis ua haujlwm ntawm cov pancreatic exocrine:Koj tus menyuam lub qog pancreas yog ib lub cev nyob tom qab lub plab. Nws muaj ib hom cell hu ua acinar cells. Cov cell no tsim cov enzymes uas pab zom cov khoom noj. Cov enzymes no rhuav cov as-ham thiab cov rog hauv cov khoom noj kom lub cev tuaj yeem nqus tau lawv. Hauv cov menyuam yaus uas muaj SDS, lub qog pancreas tsis tsim cov enzymes no txaus. Yog li ntawd, tus menyuam tsis tau txais cov as-ham uas lawv xav tau.

2. Kev ua haujlwm ntawm cov pob txha tsis zoo: Koj tus menyuam cov pob txha tsim cov qe ntshav liab, cov qe ntshav dawb, thiab cov ntshav platelets. Hauv cov menyuam yaus uas muaj SDS, cov pob txha tsim cov qe ntshav no tsawg dua li qub. Tshwj xeeb, nws tsis tsim cov qe ntshav dawb txaus hu ua neutrophils . Neutrophils yog cov qe ntshav uas feem ntau tiv thaiv lub cev los ntawm cov kab mob xws li cov kab mob me me. Qee tus menyuam yaus uas muaj SDS tsis muaj neutrophils txaus los tawm tsam cov kab mob me me no. Qhov mob no hu ua neutropenia . Cov menyuam yaus uas muaj neutropenia feem ntau muaj cov kab mob me me xws li mob ntsws, mob pob ntseg nruab nrab, lossis mob tawv nqaij.

3. Kev puas tsuaj ntawm cov pob txha: Cov menyuam yaus uas muaj SDS yuav muaj cov mob xws li scoliosis, cov pob txha ntawm caj npab thiab ceg luv dua (chondrodysplasia), lossis lub hauv siab nqaim dua, zoo li lub tswb (thoracic dystrophy).

Cov teeb meem ntawm Shwachman-Diamond syndrome (SDS) yog dab tsi?

Cov neeg uas muaj tus mob no muaj feem yuav tsim cov qe ntshav tsis zoo ('(myelodysplasia)') . Cov no tom qab ntawd tuaj yeem hloov mus ua mob qog ntshav hu ua '(acute myeloid leukemia)' .

Cov tsos mob ntawm Shwachman-Diamond syndrome (SDS) yog dab tsi?

Tus mob no tuaj yeem cuam tshuam rau ntau qhov ntawm lub cev ntawm tus menyuam. Tab sis cov tsos mob feem ntau yog cov qog pancreas, pob txha, thiab cov pob txha. Ib txhia neeg yuav muaj cov tsos mob thaum yug los, thaum yau, lossis thaum yau. Muaj ob peb tug neeg uas yuav muaj cov tsos mob thaum lawv tseem hluas.

Cov tsos mob feem ntau:

• Tsis muaj zog: Qhov no txhais tau tias koj tus menyuam tsis hnyav zuj zus. Yog tias muaj SDS, qhov no yuav yog vim nws zom zaub mov tsis zoo.
• Qaug zog: Ib tug me nyuam uas nkees yuav chim siab thiab qaug zog.
• Cov quav loj, roj, tsw phem: Koj tus menyuam cov quav yuav loj heev, zoo li roj, thiab muaj ntxhiab tsw phem.
• Cov kab mob loj rov tshwm sim dua: Yog tias cov kab mob bacterial pheej tshwm sim, nws yuav yog ib qho tsos mob ntawm SDS.
• Cov kev hloov pauv pom tseeb hauv cov pob txha ntawm caj npab thiab ceg: Cov menyuam mos caj npab thiab ceg yuav luv dua piv rau lawv lub cev.

Dab tsi ua rau muaj tus mob Shwachman-Diamond syndrome (SDS)?

Kwv yees li 90% ntawm cov menyuam yaus uas muaj SDS muaj kev hloov pauv hauv cov noob 'SBDS' . Cov kev tshawb fawb tau qhia tias qhov kev hloov pauv no tuaj yeem tau txais los ntawm ob leeg niam txiv ('(autosomal recessive manner)') lossis los ntawm ib tus niam txiv thiab muaj kev hloov pauv tshiab tshwm sim. Cov kws tshawb fawb tseem tsis tau paub meej tias vim li cas kev hloov pauv hauv cov noob 'SBDS' ua rau SDS.

Cov kws kho mob kuaj mob li cas?

Cov kws kho mob yuav kuaj lub cev kom paub txog kev noj qab haus huv ntawm koj tus menyuam. Lawv yuav ntsuas qhov siab thiab qhov hnyav ntawm koj tus menyuam thiab muab piv rau qhov kev loj hlob ntawm lwm tus menyuam uas muaj hnub nyoog li lawv. Lawv kuj tseem yuav ua cov kev ntsuam xyuas hauv qab no:

• Kev suav cov ntshav tag nrho (CBC) nrog rau qhov sib txawv: Qhov no suav cov qe ntshav ntawm tus menyuam, tshwj xeeb tshaj yog txhua cov qe ntshav dawb.
• Kev kuaj mob pancreas: Cov kws kho mob yuav tshuaj xyuas koj tus menyuam cov quav lossis ua cov kev kuaj duab xws li kev thaij duab computed tomography (CT).
• Kev kuaj ntshav los xyuas cov qib vitamin.
• Cov duab X-ray: Tej zaum yuav siv cov duab X-ray los xyuas seb puas muaj teeb meem pob txha, tshwj xeeb tshaj yog nyob rau hauv tus menyuam lub duav lossis ceg.
• Kev kuaj noob caj noob ces: Txhawm rau txheeb xyuas cov kev hloov pauv noob caj noob ces uas ua rau muaj SDS, cov kws kho mob yuav tshuaj xyuas cov qauv ntawm cov ntshav, daim tawv nqaij, plaub hau, lossis cov nqaij ntawm tus menyuam kom paub tseeb tias tus menyuam puas muaj qhov mob no.

Yuav kho tus mob no li cas?

Tus mob Shwachman-Diamond syndrome muaj peev xwm cuam tshuam rau koj tus menyuam ntau yam. Piv txwv li, ib tug menyuam yuav tsis zom zaub mov vim muaj teeb meem nrog lub txiav, tab sis lawv cov pob txha pob txha yuav ua haujlwm li qub. Cov tsos mob yuav tsis hnyav heev lossis tsis hnyav heev. Cov kws kho mob kho cov kev hloov pauv no raws li qhov hnyav ntawm tus mob.

Rau kev tsis txaus ntawm pancreatic exocrine:

Cov kws kho mob yuav sau ntawv kom noj cov enzymes pancreatic lossis cov vitamins uas yaj hauv roj kom pab koj tus menyuam lub cev nqus tau cov as-ham thiab rog.

Rau kev ua tsis tiav ntawm cov pob txha:

Vim tias qhov mob no cuam tshuam rau tus menyuam pob txha, cov pob txha tsis tsim cov neutrophils txaus. Cov kws kho mob feem ntau tsis kho cov kab mob pob txha tshwj tsis yog tias tus menyuam muaj teeb meem loj. Kev kho mob yuav suav nrog:

• Kev hloov ntshav: Ua rau cov qe ntshav ntau ntxiv.
• Kev hloov ntshav platelet: Ua kom cov ntshav platelet ntau ntxiv los pab daws cov teeb meem los ntshav.
• Granulocyte-colony stimulating factor (G-CSF) : Kev kho mob no ua rau cov neutrophils ntau ntxiv hauv cov qe ntshav dawb ntawm tus menyuam.
• Kev Hloov Cov Qog Ntshav: Ib txhia neeg uas muaj SDS yuav mob qog ntshav lossis muaj teeb meem ntshav loj heev. Cov kws kho mob tuaj yeem kho cov mob no los ntawm kev hloov cov qog ntshav.

Rau cov kab mob tsis zoo ntawm lub cev:

Cov kws kho mob feem ntau saib xyuas cov teeb meem pob txha uas tshwm sim los ntawm SDS. Qee tus menyuam yaus yuav xav tau kev phais pob txha yog tias lawv muaj teeb meem loj heev.

Cov kws kho mob tshwj xeeb uas kho tus mob no yog leej twg?

Xav tau ib pab neeg kws tshwj xeeb los kho tus mob Shwachman-Diamond syndrome. Pab neeg kho mob ntawm koj tus menyuam yuav suav nrog:

• Cov Kws Kho Mob Me Nyuam Yaus: Cov kws kho mob no kho cov menyuam mos, cov menyuam yaus, thiab cov hluas. Cov kws kho mob me nyuam yaus ntawm koj tus menyuam yuav pom zoo kom kuaj seb puas muaj SDS.
• Cov kws kho mob endocrinologist: Cov no yog cov neeg uas muaj kev txawj ntse hauv lub endocrine system, uas cuam tshuam rau tus menyuam txoj kev loj hlob.
• Cov kws kho mob ntshav: Cov no yog cov neeg uas tshwj xeeb hauv cov kab mob ntshav, suav nrog cov kab mob uas cuam tshuam rau cov qe ntshav ntawm tus menyuam.
• Cov kws kho mob plab hnyuv: Cov kws kho mob no tuaj yeem pab kho koj tus menyuam cov teeb meem ntawm lub plab zom mov.
• Cov Kws Kho Mob Txog Genetics: Shwachman-Diamond syndrome yog ib yam mob uas muaj los ntawm noob caj noob ces. Cov kws kho mob no, lossis cov kws pab tswv yim txog noob caj noob ces, yuav npaj kev kuaj noob caj noob ces los xyuas kom meej tias koj tus menyuam muaj mob. Lawv kuj tseem yuav kuaj koj thiab qee tus txheeb ze ntawm koj tus menyuam.
• Kws kho mob tshwj xeeb txog pob txha: Yog tias koj tus menyuam muaj teeb meem pob txha uas yuav tsum tau phais, koj yuav tsum mus ntsib kws kho mob tshwj xeeb txog pob txha.

Kuv puas tiv thaiv tau qhov no?

Kab mob Shwachman-Diamond yog ib yam mob uas tau txais los ntawm noob caj noob ces . Yog tias koj paub tias koj muaj tus mob no, nws yog ib lub tswv yim zoo los tham nrog tus kws kho mob txog noob caj noob ces. Yog tias koj muaj cov menyuam uas muaj tus mob no, tej zaum koj yuav xav txog kev kuaj noob caj noob ces kom pom tias koj cov menyuam puas muaj qhov kev hloov pauv ntawm noob caj noob ces uas ua rau muaj SDS.

Puas kho tau tus mob Shwachman-Diamond syndrome (SDS) kom zoo tag nrho?

Cov kws kho mob tsis muaj peev xwm kho tau qhov mob no tag nrho. Yog tias koj tus menyuam muaj qhov mob no, nws yuav xav tau kev kho mob mus tas nws lub neej.

Nyob nrog tus mob Shwachman-Diamond syndrome (SDS) zoo li cas?

Ib yam li ntawd, Shwachman-Diamond syndrome yog ib yam mob uas kav ntev . Yog tias koj tus menyuam muaj tus mob no, nws yuav tsum tau kuaj mob thiab kuaj mob tsis tu ncua.

• Kev suav cov ntshav tag nrho (CBC) thiab kev suav cov qe ntshav dawb, kev suav cov ntshav platelet: Cov kws kho mob yuav ua cov kev kuaj no txhua peb mus rau rau lub hlis.
• Kev kuaj mob pob txha: Cov kws kho mob ntshav yuav ua cov kev kuaj no ib xyoos ib zaug txog ib zaug txhua peb xyoos.
• Kev kuaj ntshav rau cov vitamins: Cov kws kho mob yuav ntsuas qhov ntau ntawm cov vitamins hauv cov ntshav ntawm tus menyuam kom pom tias kev kho mob enzyme pancreatic puas ua haujlwm.
• Kev ntsuas qhov ceev ntawm pob txha: Cov kws kho mob tuaj yeem kuaj qhov ceev ntawm pob txha ua ntej thiab thaum lub sijhawm laus.
• Cov duab X-ray: Cov duab X-ray yuav raug ua los xyuas seb puas muaj teeb meem nrog koj tus menyuam lub duav thiab lub hauv caug, tshwj xeeb tshaj yog thaum lub sijhawm loj hlob sai.
• Kev ntsuam xyuas kev loj hlob: Ib txhia menyuam uas muaj SDS yuav muaj teeb meem kev loj hlob, xws li kev tsis mloog zoo (ADD). Cov kws kho mob yuav ntsuam xyuas kev loj hlob txhua rau lub hlis txij thaum yug los txog rau hnub nyoog 6, thiab kev loj hlob txhua rau lub hlis.
• Kev kuaj thiab kev ntsuam xyuas txog lub hlwb: SDS tuaj yeem ua rau muaj mob xws li kev tsis mloog zoo (ADD) lossis kev loj hlob tsis zoo (PDD). Cov kws kho mob yuav pom zoo kom muaj kev ntsuam xyuas tsis tu ncua thaum muaj hnub nyoog 6-8, 11-13, thiab 15-17.

Kuv yuav pab kuv tus menyuam li cas thiaj daws tau qhov teeb meem no?

Cov menyuam yaus uas muaj tus mob no yuav muaj ntau yam teeb meem kev kho mob. Lawv yuav xav tau kev kho mob los pab lawv nqus cov as-ham thiab cov rog. Lawv yuav muaj feem kis tau kab mob ntau dua. Lawv kuj tseem yuav muaj cov pob txha tsis zoo uas ua rau lawv zoo li txawv ntawm lwm tus.

Txawm yog cov tsos mob li cas los xij, cov menyuam uas muaj tus mob no yuav muaj kev txhawj xeeb sib xws - tias lawv txawv ntawm lwm tus . Lawv yuav xav tau kev kho mob uas ua rau lawv tsis tuaj kawm ntawv thiab lwm yam kev ua ub no. Lawv qhov tsos yuav hloov pauv. Thaum koj tus menyuam loj hlob tuaj, cov kev hloov pauv no yuav ua rau lawv npau taws thiab chim siab. Kev nkag siab txog cov kev xav no tuaj yeem pab koj tus menyuam tswj hwm lawv txoj kev xav. Qee tus menyuam yuav tau txais txiaj ntsig los ntawm kev tham nrog tus kws tshaj lij kev noj qab haus huv ntawm lub hlwb. Yog tias koj txhawj xeeb txog seb koj tus menyuam daws lawv tus mob li cas, nug koj tus kws kho mob kom tau cov lus qhia.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj tus menyuam muaj tus kab mob Shwachman-Diamond syndrome, koj yuav tsum sim paub txog kev hloov pauv hauv koj tus menyuam lub cev . Cov tsos mob ntawm SDS feem ntau hloov pauv raws sijhawm. Qee zaum, cov kev hloov pauv no tuaj yeem yog cov cim qhia txog cov teeb meem loj, suav nrog mob qog ntshav.

Cov menyuam yaus lub cev hloov pauv tas li thaum lawv dhau mus txog thaum lawv tseem yog menyuam yaus, thaum yau, thaum hluas (tshwj xeeb tshaj yog thaum hluas thiab thaum laus), thiab thaum lawv loj hlob. Cov kev hloov pauv no tsis yog ib txwm yog ib qho cim qhia txog ib yam kab mob tshiab lossis ib yam mob hnyav dua.

Koj tus menyuam muaj sijhawm teem caij mus ntsib kws kho mob tsis tu ncua.Cov kev teem caij tsis tu ncua yog lub sijhawm zoo tshaj plaws rau koj nug cov lus nug txog kev hloov pauv uas yuav yog cov cim qhia txog teeb meem loj dua.

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

Shwachman-Diamond syndrome yog ib yam mob tsis tshua muaj. Tej zaum koj yuav tsis paub tias koj muaj nws. Nov yog qee cov lus nug uas koj tuaj yeem nug koj tus kws kho mob:

• Vim li cas kuv tus menyuam thiaj muaj tus mob no?
• Puas yog nws muaj tus mob no me me xwb los yog tus mob hnyav heev?
• Qhov mob no cuam tshuam li cas rau kuv tus menyuam?
• Cov kev kho mob yog dab tsi?
• Cov tsos mob ntawm kuv tus menyuam puas yuav hnyav zuj zus?
• Puas yuav tsum kuaj xyuas seb puas muaj noob caj noob ces ntawm kuv tus menyuam?
• Puas yog kuv thiab tus niam txiv ntawm tus menyuam yuav tsum tau kuaj noob caj noob ces?
• Kuv yuav pab kuv tus menyuam tswj kev kho mob li cas?

Thaum kawg, qhov tseem ceeb tshaj plaws (Cov Lus Qhia Coj Mus Tsev)

Kab mob Shwachman-Diamond yog ib yam mob uas tsis tshua muaj, uas tau txais los ntawm noob caj ces uas cuam tshuam rau kev loj hlob ntawm cov menyuam yaus, kev kis tus kab mob, thiab kev tsis zoo ntawm pob txha. Txawm hais tias qee tus menyuam muaj cov tsos mob me me, txhua tus menyuam uas muaj tus mob no yuav xav tau kev kho mob mus tas li. Yog tias koj tus menyuam muaj kab mob Shwachman-Diamond, koj yuav xav tias ntxhov siab los ntawm qhov tsis paub meej ntawm yav tom ntej. Yog tias koj nyob hauv qhov xwm txheej no, qhia koj qhov kev txhawj xeeb rau koj tus menyuam cov kws kho mob. Lawv nkag siab tias nws zoo li cas los txhawj txog thiab saib xyuas tus menyuam uas muaj mob hnyav, qee zaum tsis tau xav txog. Lawv tuaj yeem pab koj tus menyuam tsis yog tsuas yog daws qhov mob xwb, tab sis kuj pab lawv nyob zoo. Thiab lawv zoo siab los pab koj pab koj tus menyuam. Tsis txhob xav tias koj nyob ib leeg, thiab thov kev pab.

Shwachman -Diamond syndrome, SDS, kev txawv txav ntawm cov noob caj noob ces, pancreas, pob txha, kev txawv txav ntawm pob txha, cov kab mob menyuam yaus, neutropenia