Koj tus me nyuam puas muaj cov tsos mob txawv txawv no? Cia peb tham txog Hurler Syndrome.

Koj yuav tsum txhawj xeeb txog koj tus menyuam txoj kev loj hlob thiab tus cwj pwm tas li, puas yog? Qee zaum, nws yog ib qho ib txwm muaj uas yuav ntshai me ntsis thaum tej yam tsis mus raws li xav tau. Hnub no peb yuav tham txog ib qho mob tsis tshua muaj tab sis tseem ceeb heev uas yuav tsum paub txog. Nws hu ua Hurler Syndrome. Tej zaum koj yuav tsis tau hnov ​​​​​​txog lub npe no ua ntej. Tab sis nws tsim nyog paub txog nws, tshwj xeeb tshaj yog tias ib tug neeg hauv koj tsev neeg tau muaj tus mob no.

Hurler Syndrome yog dab tsi? Cia peb nkag siab yooj yim!

Zoo, yog li cia peb xub saib seb Hurler Syndrome yog dab tsi. Hais yooj yim xwb, nws yog ib qho mob caj ces tsis tshua muaj. Nws suav hais tias yog hom mob hnyav tshaj plaws ntawm ib pawg kab mob hu ua Mucopolysaccharidosis hom 1 (MPS 1). Qee cov suab thaj hauv peb lub cev, tshwj xeeb yog glycosaminoglycans (yav tas los hu ua mucopolysaccharides), xav tau ib qho enzyme tshwj xeeb los rhuav tshem lawv thiab tshem tawm ntawm lub cev. Ib tug neeg uas muaj Hurler Syndrome tsis tsim cov enzyme no, lossis tsim nws me ntsis.

Xav txog seb, yuav ua li cas yog tias lub tshuab sau khib nyiab hauv peb lub tsev tsis ua haujlwm zoo? Cov khib nyiab sib sau ua ke, puas yog? Yog li ntawd nws yog. Thaum cov enzyme no ploj lawm, cov suab thaj ntawd yuav sib sau ua ke hauv cov qhov chaw ntawm lub cev hu ua '(lysosomes)' hauv cov cell. Cov '(lysosomes)' no zoo li cov 'chaw ntxuav me me' hauv peb cov cell. Tom qab ntawd, cov suab thaj ntawd yuav sib sau ua ke hauv cov no, thiab lawv puv zoo li ib pawg khib nyiab. Qhov no kuj hu ua '(lysosomal storage condition)'. Thaum qhov no tshwm sim, cov cell tsis tuaj yeem ua haujlwm zoo, thiab qee zaum cov cell tuag. Qhov no yog vim li cas cov tsos mob ntawm Hurler syndrome tshwm sim.

Qhov mob no tuaj yeem ua rau muaj qhov tsis zoo ntawm cov pob txha thiab cov pob qij txha, cov yam ntxwv ntawm lub ntsej muag, teeb meem kev loj hlob ntawm lub hlwb, kab mob plawv, teeb meem ntsws, thiab daim siab thiab tus po loj . Yog tias qhov no tshwm sim rau ib tug menyuam yaus, cov tsos mob tuaj yeem ua rau tuag taus, thiab hmoov tsis zoo, lub neej ntev tuaj yeem luv dua.

Muaj dab tsi ntxiv nyob rau hauv pawg no hu ua MPS I?

Peb tau hais ua ntej lawm tias Hurler syndrome yog qhov hnyav tshaj plaws ntawm pawg '(MPS I)'. Muaj ob hom ntxiv hauv pawg '(MPS I)' no.

• Hurler syndrome - Qhov no yog hom mob hnyav tshaj plaws uas peb tab tom tham txog.
• Hurler-Scheie syndrome - Qhov no yog ib hom mob hnyav nruab nrab.
• Scheie syndrome - Qhov no yog hom mob hnyav tsawg tshaj plaws ntawm pawg no.

Peb hom kab mob no zoo li cov theem sib txawv ntawm tib yam kab mob. Zoo li tsis hnyav heev thiab hnyav dua. Cov kws kho mob feem ntau hu ob hom kab mob uas tsis hnyav heev ua "attenuated MPS I".

Qhov sib txawv tseem ceeb ntawm cov hom no yog lub sijhawm pib muaj cov tsos mob, qhov ceev ntawm tus kab mob, thiab qhov cuam tshuam rau kev txawj ntse. Hauv Hurler syndrome, cov tsos mob feem ntau tshwm sim sai tom qab yug los.Nws kuj muaj feem cuam tshuam loj heev rau kev loj hlob ntawm lub hlwb. Hauv lwm hom mob '(attenuated MPS I)', cov tsos mob yuav tsis tshwm sim txog thaum muaj hnub nyoog li rau lossis xya xyoo. Tsis tas li ntawd, qhov cuam tshuam rau kev txawj ntse tsis hnyav npaum li Hurler syndrome. Yog li ntawd, cov neeg uas muaj '(attenuated MPS I)' yuav muaj sia nyob ntev li qub.

Leej twg thiaj li muaj tau tus mob Hurler Syndrome?

Qhov no yog kev hloov pauv caj ces uas tuaj yeem cuam tshuam rau txhua tus menyuam. Txawm li cas los xij, yog tias ib tug neeg hauv koj tsev neeg tau muaj tus kab mob Mucopolysaccharidosis hom I, koj tus menyuam muaj feem yuav mob no ntau dua me ntsis. Qhov no tsis yog ib yam dab tsi uas leej niam tau ua thaum cev xeeb tub.

Qhov teeb meem no feem ntau tshwm sim li cas?

Kab mob Hurler Syndrome yog ib yam mob uas tsis tshua muaj. Kwv yees li ntawm ib tug ntawm 100,000 tus menyuam mos uas yug los. Ob leeg txiv neej thiab poj niam muaj feem yuav mob li ntawd. Hom kab mob MPS I uas tsis hnyav heev, uas tau hais ua ntej lawm, cuam tshuam rau kwv yees li ntawm ib tug ntawm 500,000 tus menyuam mos.

Hurler Syndrome cuam tshuam li cas rau lub cev ntawm tus menyuam?

Tus mob no cuam tshuam rau ntau yam ntawm lub cev loj hlob ntawm tus menyuam. Qee cov tsos mob ntawm lub cev uas tshwm sim yog tshwj xeeb rau tus mob no. Piv txwv li:

• Lub taub hau loj dua li qub.
• Qhov muag pos huab yog thaum qhov dawb ntawm lub qhov muag (cornea) nyob ib ncig ntawm lub nplhaib dub ntawm lub qhov muag zoo li pos huab.
• Cov yam ntxwv tshwj xeeb ntawm lub ntsej muag: tej yam xws li qhov deb ntawm ob lub qhov muag nce ntxiv, lub hauv pliaj loj dua, tus choj qhov ntswg tiaj tiaj, thiab daim di ncauj loj dua.
• Nws kuj tseem cuam tshuam rau txoj kev uas cov pob txha loj hlob, uas tuaj yeem ua rau tus menyuam qhov siab txo qis (ua pa luv).

Ntxiv rau cov tsos mob sab nraud no, nws kuj cuam tshuam rau cov kab mob sab hauv ntawm lub cev. Tshwj xeeb tshaj yog lub plawv thiab lub ntsws. Vim li no, tus menyuam yuav raug mob pob ntseg ntau zaus, mob sinus, thiab mob ntsws. Qee zaum, yuav xav tau cov tshuab los pab ua pa, thiab yuav tsum tau phais kom kho qhov puas tsuaj rau cov kab mob.

Cov tsos mob ntawm tus kab mob Hurler syndrome tuaj yeem ua rau tuag taus. Txawm li cas los xij, yog tias tus kab mob raug kuaj pom thiab kho thaum ntxov, lub sijhawm ciaj sia ntawm tus menyuam yuav ntev dua.

Yog tias koj tab tom npaj yuav cev xeeb tub yav tom ntej, nws yog ib lub tswv yim zoo kom nkag siab txog cov kev pheej hmoo ntawm cov mob uas tau txais los ntawm noob caj noob ces, tham nrog koj tus kws kho mob, thiab kawm txog kev kuaj noob caj noob ces.

Cov tsos mob ntawm Hurler Syndrome yog dab tsi?

Cov tsos mob ntawm tus kab mob no yuav txawv ntawm ib tus neeg mus rau ib tus neeg, thiab qhov hnyav yuav txawv. Cov tsos mob feem ntau pib thaum yau. Ib qho ntawm cov yam ntxwv tseem ceeb uas ua rau qhov no txawv ntawm lwm hom MPS I yog tias nws qhia txog kev qeeb hauv kev loj hlob ntawm lub hlwb thaum ntxov hauv lub neej thiab maj mam txo qis hauv kev kawm thiab kev nco qab raws sijhawm.Hauv cov qauv MPS I uas tsis hnyav heev, kev txawj ntse feem ntau tsis cuam tshuam loj heev.

Nov yog qee cov tsos mob ntawm Hurler syndrome:

• Teeb meem ntawm lub plawv valve, qaug zog ntawm cov leeg nqaij plawv (cardiomyopathy)
• Kev hnov ​​​​​​lus tsis zoo lossis kev hnov ​​​​​​lus tsis zoo tag nrho
• Kev sib sau ua ke ntawm cov kua dej cerebrospinal nyob ib puag ncig lub hlwb (hydrocephalus)
• Kev loj hlob ntawm cov kabmob thiab cov ntaub so ntswg sib txuas, xws li lub siab, tus po, tonsils, thiab cov leeg
• Teeb meem pom kev, piv txwv li, qhov muag siab ntxiv (glaucoma)
• Teeb meem ntawm cov pob qij txha (mob pob qij txha, mob carpal tunnel syndrome, mob pob qij txha)
• Kab mob ua pa ntau zaus, pw tsaug zog apnea, ua pa nyuaj
• Hernias (mob hauv plab los yog qhov chaw mos)

Cov yam ntxwv pom tau sab nraud

Thaum koj tus menyuam thawj xyoo, koj yuav pib pom cov cim sab nraud no:

• luv luv
• Dysostosis ( kev sib dhos tsis zoo ntawm cov pob txha )
• Ib qho nkhaus ntawm sab nraub qaum sab saud (zoo li tus neeg hunchback) (thoracic-lumbar kyphosis)
• Cov plaub hau loj hlob ntau dhau ntawm lub cev, tshwj xeeb tshaj yog ntawm lub ntsej muag thiab nraub qaum

Vim li cas ho ua li no?

Qhov ua rau muaj Hurler syndrome yog kev hloov pauv hauv cov noob hu ua 'IDUA'. Cov noob 'IDUA' no yog qhov uas muab cov lus qhia los ua cov '(lysosomal enzymes)' uas peb tau tham txog ua ntej. Nco ntsoov, cov enzyme no rhuav tshem cov khoom pov tseg (cov suab thaj) hauv cov cell. Tom qab ntawd, thaum cov noob 'IDUA' no tsis ua haujlwm zoo, cov enzyme ntawd tsis tsim tawm ntau txaus. Yog li ntawd, cov khoom pov tseg ntawd sib sau ua ke hauv cov cell, thiab cov cell tuag lossis tsis ua haujlwm zoo. Qhov no yog vim li cas cov tsos mob ntawm Hurler syndrome tshwm sim.

Qhov no los ntawm ib tiam dhau ib tiam li cas?

Qhov no yog ib qho mob uas tau los ntawm noob caj ces, txhais tau tias nws yog kis los ntawm niam txiv mus rau menyuam. Nws yog tau los ntawm txoj kev autosomal recessive. Hais yooj yim xwb, rau ib tug menyuam kom muaj tus mob no, tus menyuam yuav tsum tau txais cov noob caj ces 'IDUA' uas tsis zoo los ntawm niam thiab txiv. Yog tias tsuas yog ib tug niam txiv tau txais cov noob caj ces uas tsis zoo, tus menyuam yuav tsis muaj tus kab mob no. Txawm li cas los xij, tus menyuam ntawd tuaj yeem yog tus 'nqa' tus kab mob. Qhov no txhais tau tias txawm tias lawv tsis muaj tsos mob los xij, lawv tuaj yeem xa cov noob caj ces mus rau lawv cov menyuam.

Yuav kuaj mob Hurler Syndrome li cas?

Zoo hmoo, muaj cov kev kuaj mob uas tuaj yeem kuaj pom qhov mob no ua ntej tus menyuam yug los. Cov no hu ua kev kuaj mob ua ntej yug menyuam.

• Amniocentesis: Qhov no suav nrog kev coj me me ntawm cov kua amniotic nyob ib puag ncig tus menyuam thiab kuaj nws.
• Kev kuaj mob Chorionic villus: Qhov no suav nrog kev coj ib daim ntaub me me los ntawm lub placenta thiab kuaj nws.

Ob qho kev kuaj no tuaj yeem kuaj xyuas seb puas muaj qhov tsis zoo ntawm cov noob caj noob ces hauv tus menyuam DNA.

Tom qab tus me nyuam yug los, tus kws kho mob yuav kuaj tus me nyuam, saib cov tsos mob, thiab ua qhov kev ntsuam xyuas enzyme kom paub tseeb tias muaj tus kab mob. Lawv kuj yuav nug seb puas muaj leej twg hauv tsev neeg tau muaj tus mob no (mucopolysaccharidosis), vim nws tuaj yeem yog los ntawm noob caj noob ces.

Qee zaum, yuav muaj kev kuaj ntxiv los xyuas kom meej tias tus kab mob no yog dab tsi. Piv txwv li:

• Ib daim duab X-ray los saib cov pob txha ntawm tus menyuam
• Ib daim echocardiogram (kev ntsuas lub plawv)
• Kev kuaj ntshav thiab zis

Yuav kho qhov no li cas?

Kev kho mob rau Hurler syndrome tsom mus rau kev tiv thaiv thiab tswj cov tsos mob.

Ob txoj kev kho mob tseem ceeb uas muaj tam sim no yog:

1. Kev Kho Mob Hloov Enzyme (ERT): Qhov no suav nrog kev muab lub cev ib qho enzyme uas tsis muaj. Cov enzyme no hu ua alpha L-iduronidase (lub npe lag luam aldurazyme). Qhov no tuaj yeem pab tiv thaiv cov tsos mob kom tsis txhob hnyav zuj zus thiab kho qee qhov teeb meem. Kev kho mob no pib sai li sai tau thaum kuaj pom tias muaj tus kab mob. Qhov no yog kev kho mob tas mus li uas muab ua kev txhaj tshuaj . Tus kws kho mob yuav txiav txim siab tias yuav tsum txhaj tshuaj ntau npaum li cas, nyob ntawm qhov hnyav ntawm tus kab mob.

2. Kev Hloov Cov Qog Hematopoietic Stem Cell (HSCT): Qhov no tsuas yog kev hloov cov pob txha xwb. Kev kho mob no feem ntau yog muab rau cov menyuam yaus hnub nyoog qis dua ob xyoos (qee zaum laus dua, nyob rau hauv kev saib xyuas ntawm kws kho mob). Hauv cov xwm txheej hnyav, nws tuaj yeem pab ua kom lub neej ntev dua, tiv thaiv kab mob kom tsis txhob kis mus rau lwm tus, khaws cia lub peev xwm ntawm kev txawj ntse, thiab txo cov tsos mob ntawm lub cev. Qhov no suav nrog kev hloov cov qeg enzyme uas tsim cov enzyme los ntawm cov pob txha ntawm tus neeg pub dawb noj qab haus huv rau hauv tus menyuam.

Ntxiv rau cov kev kho mob tseem ceeb no, muaj lwm yam kev kho mob los tswj cov tsos mob:

• Kev Phais Mob: Kev phais mob tuaj yeem ua tau los kho lossis hloov cov qhov plawv, tshem tawm cov cataracts thiab ntxig lub lens cuav (cornea replacement), kho cov pob txha loj hlob tsis zoo, thiab kho cov hernias.
• Ntau yam kev kho mob: Kev kho lub cev, kev kho mob ua haujlwm, kev kho kev hais lus, thiab lwm yam.
• Yog tias koj ua pa nyuaj, siv lub cuab yeej zoo li lub tshuab CPAP.
• Yog koj hnov ​​lus tsis zoo, siv cov khoom pab hnov ​​lus.
• Cov tshuaj tua kab mob kom txo qhov mob uas tshwm sim los ntawm cov tsos mob.

Puas muaj teeb meem dab tsi los ntawm kev kho mob?

Muaj tej lub sij hawm, tej teeb meem yuav tshwm sim tau vim yog cov tshuaj loog uas muab thaum lub sij hawm phais, vim tias cov menyuam no ua pa nyuaj thiab cov pob qij txha sib zog ua rau nws nyuaj rau ntxig txoj kab IV.

Tsis tas li ntawd xwb, kom tau txais txiaj ntsig zoo tshaj plaws ntawm kev kho mob ERT thiab HSCT, nws yog ib qho tseem ceeb kom pib ua raws sijhawm. Kev ncua kev kho mob, tshwj xeeb tshaj yog tias cov tsos mob ntsig txog kev loj hlob ntawm lub hlwb twb tau tshwm sim lawm, yuav ua rau cov txiaj ntsig txo qis. Yog li ntawd, ua ntej pib kho mob rau koj tus menyuam, tham nrog koj tus kws kho mob txog cov kev mob tshwm sim lossis teeb meem uas yuav tshwm sim.

Puas muaj ib txoj kev los tiv thaiv qhov mob no kom tsis txhob tshwm sim rau tus menyuam?

Tu siab kawg li, Hurler syndrome yog ib yam mob uas muaj los ntawm noob caj ces, yog li ntawd peb thiaj tsis tuaj yeem tiv thaiv tau. Txawm li cas los xij, yog tias koj npaj yuav muaj menyuam yav tom ntej, nws yog ib lub tswv yim zoo kom sab laj nrog kws kho mob kom tau txais kev qhia txog noob caj ces thiab, yog tias tsim nyog, kuaj noob caj ces kom nkag siab txog qhov kev pheej hmoo ntawm koj tus menyuam uas muaj cov mob no.

Yuav ua li cas yog tias koj muaj menyuam yaus uas muaj Hurler Syndrome?

Qhov no tu siab kawg li. Qhov kev kwv yees rau cov menyuam yaus uas muaj tus kab mob Hurler syndrome tsis zoo heev. Vim yog cov tsos mob hnyav ntawm tus kab mob no, tshwj xeeb tshaj yog cov teebmeem rau lub plawv thiab lub ntsws, lub neej nruab nrab ntawm ib tug menyuam yog li 10 xyoo. Txawm li cas los xij, yog tias tus kab mob raug kuaj pom ntxov thiab kev kho mob xws li 'HSCT' (hloov pob txha) thiab 'ERT' (kev kho enzyme) tau pib, lub neej ntev tuaj yeem ntev dua me ntsis.

Cov menyuam yaus uas muaj hom mob MPS I nruab nrab lossis tsis hnyav heev tuaj yeem nyob tau txog lawv cov hnub nyoog 20 thiab 30 xyoo yog tias kho. Kev tuag ntxov feem ntau yog vim ua tsis taus pa.

Tiam sis nco ntsoov, yog tias tus kab mob tsis hnyav heev thiab pib kho thaum ntxov, tej zaum koj yuav muaj peev xwm ua neej nyob li qub.

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

Txog niaj hnub no, tseem tsis tau muaj tshuaj kho tus mob Hurler syndrome no. Txawm li cas los xij, cov kev kho mob tam sim no tuaj yeem pab ua kom lub neej ntev dua thiab txo cov tsos mob uas yuav ua rau tuag taus.

Thaum twg koj yuav tsum coj koj tus menyuam mus ntsib kws kho mob?

Yog tias koj xav tias koj tus menyuam muaj cov tsos mob ntawm Hurler syndrome, tshwj xeeb tshaj yog tias nws tsis ncav cuag cov theem tseem ceeb ntawm kev loj hlob raws li xav tau rau nws lub hnub nyoog, lossis yog tias nws zoo li muaj teeb meem nrog kev pom lossis hnov, mus ntsib koj tus menyuam tus kws kho mob tam sim ntawd.

Xwm Ceev! Yog tias koj tus menyuam muaj teeb meem ua pa, xav tias nws lub plawv dhia tsis xwm yeem, lossis tsis nco qab ntau zaus (cov no yuav yog cov cim qhia ntawm cardiomyopathy), coj nws mus rau tsev kho mob ze tshaj plaws tam sim ntawd, lossis hu rau 1990.

Koj yuav tsum nug tus kws kho mob li cas?

Thaum koj pom tias koj tus menyuam muaj tus mob no, nws yog ib qho ib txwm muaj ntau cov lus nug. Nug koj tus kws kho mob txog tej yam xws li:

• Yuav kho kuv tus menyuam tus mob li cas kom tsis txhob muaj cov tsos mob zoo tshaj plaws?
• Puas muaj tej yam tshwm sim los ntawm cov kev kho mob uas koj pom zoo?
• Kuv tus menyuam yuav tsum tau txhaj tshuaj enzyme hloov kho mob ntau npaum li cas?

Qhov txawv ntawm Hurler Syndrome thiab Hunter Syndrome yog dab tsi?

Ob qho no yog "cov xwm txheej khaws cia lysosomal." Uas yog, cov kab mob uas cov khoom pov tseg sib sau ua ke hauv cov hlwb. Txawm li cas los xij, muaj qee qhov sib txawv me ntsis ntawm ob qho no:

• Hurler Syndrome: Qhov no yog hom mob Mucopolysaccharidosis hom I (MPS I) hnyav tshaj plaws. Hauv qhov no, lub cev cov enzyme hu ua alpha-L-iduronidase raug txo qis.
• Hunter Syndrome: Qhov no yog ib qho mob uas tsis hnyav npaum li Hurler Syndrome. Nws yog ib feem ntawm pawg Mucopolysaccharidosis hom II (MPS II). Hauv qhov no, cov enzyme hauv lub cev hu ua iduronate-2-sulfatase (I2S) raug txo qis.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Kev kuaj mob Hurler Syndrome tuaj yeem yog ib qho nyuaj rau tsev neeg daws, tshwj xeeb tshaj yog nrog ntau cov lus nug uas tshwm sim txog tus menyuam lub neej. Thaum lub sijhawm nyuaj no, nws yog ib qho tseem ceeb uas yuav tsum ua haujlwm ze nrog koj tus menyuam cov kws kho mob thiab kom paub zoo txog tus kab mob thiab cov kev xaiv kho mob. Tsis tas li ntawd, nco ntsoov tias koj tsis nyob ib leeg. Nrhiav kev txhawb nqa los ntawm tsev neeg, phooj ywg, thiab cov kws kho mob uas tuaj yeem muab kev nplij siab. Kev kuaj mob thaum ntxov thiab kev kho mob kom raug tuaj yeem pab koj tus menyuam ua lub neej zoo tshaj plaws.

Hurler Syndrome, kev mob caj ces, kev noj qab haus huv ntawm menyuam yaus, tsis muaj enzyme txaus, MPS 1, kab mob caj ces, cov kab mob thaum yau, tsis muaj enzyme txaus, cov kab mob lysosomal, Hurler Syndrome, kev mob caj ces, kev noj qab haus huv ntawm menyuam yaus, tsis muaj enzyme txaus