Koj tus menyuam puas muaj cov tsos mob no? Tej zaum yuav yog Hunter Syndrome!

Koj puas tau pom muaj kev qeeb hauv koj tus menyuam txoj kev loj hlob, lossis muaj kev hloov pauv ntawm lawv cov tsos lossis pob qij txha tsis ntev los no? Qee zaum, qhov uas ua rau muaj tej yam no yuav yog ib yam mob tsis tshua muaj uas peb tsis tau hnov ​​​​dua. Hnub no peb yuav tham txog ib yam mob caj ces hu ua Hunter Syndrome. Tsis txhob ntshai thaum koj hnov ​​​​​​qhov no, vim tias qhov tseem ceeb tshaj plaws yog kom paub txog nws.

Kab mob Hunter Syndrome yog dab tsi? Cia peb nkag siab yooj yim heev!

Hais yooj yim xwb, Hunter Syndrome yog ib qho mob caj ces tsis tshua muaj. Qhov no yog ib qho mob uas qee cov suab thaj hauv koj tus menyuam lub cev (hu ua "Glycosaminoglycans" lossis "GAGs") tsis tau tawg thiab zom kom zoo. Ib yam li cov khib nyiab hauv peb lub tsev sib sau ua ke yog tias peb tsis pov tseg kom zoo, cov suab thaj no sib sau ua ke hauv lub cev cov hlwb, tshwj xeeb tshaj yog hauv cov qhov hu ua "Lysosomes". Raws sijhawm, qhov kev sib sau ua ke no pib ua rau ntau yam kabmob thiab cov nqaij hauv lub cev puas tsuaj. Qhov kev puas tsuaj no tuaj yeem cuam tshuam rau tus menyuam txoj kev loj hlob ntawm lub cev thiab lub hlwb.

Cov kws kho mob faib Hunter Syndrome ua ob hom tseem ceeb:

1. Hom mob hnyav: Qhov no yog hom mob hnyav dua uas loj zuj zus sai dua. Hauv qhov no, tus menyuam lub peev xwm ntawm kev txawj ntse kuj raug cuam tshuam. Feem ntau, thaum muaj hnub nyoog 6 thiab 8 xyoos, tus menyuam pib muaj teeb meem ua cov haujlwm niaj hnub yooj yim. Kwv yees li 60% ntawm cov neeg uas muaj Hunter Syndrome muaj hom mob hnyav no.

2. Hom mob me me: Cov tsos mob yuav maj mam tshwm sim me ntsis. Tej zaum yuav tsis cuam tshuam rau lub peev xwm ntawm kev txawj ntse.

Hunter Syndrome yog ib pawg kab mob loj hu ua "Mucopolysaccharidoses." Yog li ntawd, nws tseem hu ua "Mucopolysaccharidosis type II" lossis "MPS II"

Hunter Syndrome no muaj ntau npaum li cas?

Qhov no yeej yog ib qho mob tsis tshua muaj. Tsis tas li ntawd, feem ntau nws cuam tshuam rau cov tub hluas. Raws li kev suav lej, tsuas yog li ib ntawm 100,000 txog 170,000 tus tub hluas raug tus kab mob no. Txawm li cas los xij, cov ntxhais tuaj yeem yog cov neeg nqa cov noob caj noob ces uas ua rau muaj tus kab mob no. Qhov no txhais tau tias txawm tias lawv tsis muaj tsos mob los xij, lawv tuaj yeem xa cov noob caj noob ces mus rau lawv cov menyuam.

Cov tsos mob ntawm ib tug menyuam uas muaj Hunter Syndrome yog dab tsi?

Cov tsos mob no feem ntau pib tshwm sim rau ib tug menyuam yaus hnub nyoog ntawm 2 thiab 4 xyoos. Cov tsos mob yuav txawv ntawm ib tus neeg mus rau ib tus neeg, thiab lawv kuj tuaj yeem sib txawv ntawm qhov hnyav. Cia peb saib cov tsos mob tseem ceeb uas tuaj yeem pom:

• Cov pob qij txha tawv, nyuaj khoov: Tej zaum yuav zoo li cov pob qij txha "tawg".
• Cov yam ntxwv ntawm lub ntsej muag tuab: Cov cheeb tsam xws li lub qhov ntswg, daim di ncauj, thiab tus nplaig yuav tuab dua thiab zoo li ntxhib me ntsis.
• Cov hniav tawm lig los yog muaj qhov sib nrug loj ntawm cov hniav.
• Lub taub hau loj dua li qub, lub hauv siab dav dua, thiab lub caj dab luv dua.
• Kev hnov ​​​​lus tsis zoo (kev hnov ​​​​lus tsis zoo) uas maj mam nce ntxiv mus raws sijhawm.
• Kev loj hlob qeeb: Qhov siab yuav qeeb, tshwj xeeb tshaj yog tom qab muaj hnub nyoog 5 xyoos.
• Lub po thiab lub siab loj dua.
• Cov tsos ntawm cov pob dawb ntawm daim tawv nqaij.

Nws yog qhov zoo tshaj plaws kom tsis txhob ntshai yog tias koj pom ib lossis ob qho ntawm cov tsos mob no, tab sis yog tias koj tus menyuam tseem muaj ntau dua ib qho ntawm cov tsos mob no, nws yog qhov zoo los nrhiav kev pab kho mob.

Vim li cas thiaj muaj tus mob Hunter Syndrome? Dab tsi yog qhov ua rau muaj tus mob no?

Qhov laj thawj tseem ceeb rau qhov no yog kev hloov pauv caj ces hauv cov noob 'IDS'. Cov noob 'IDS' no tswj kev tsim cov enzyme hu ua '(Iduronate 2-sulfatase)' lossis '(I2S)' hauv peb lub cev. Lub luag haujlwm ntawm cov enzyme '(I2S)' no yog los rhuav tshem cov suab thaj uas hu ua '(Glycosaminoglycans)' lossis '(GAGs)' uas peb tau tham txog ua ntej.

Yog li ntawd, rau ib tug neeg uas muaj tus kab mob Hunter syndrome (MPS II)`, cov enzyme `(I2S)` no tsis tsim tawm hauv lub cev, lossis nws tsim tawm me me xwb. Vim tias cov enzyme no tsis muaj, cov `(GAGs)` qab zib molecules sib sau ua ke hauv cov khoom hu ua `(Lysosomes)` hauv cov cell. `(Lysosomes)` yog qhov chaw hauv cov cell uas rhuav tshem thiab rov ua dua cov molecules tsis tsim nyog. Vim tias `(GAGs)` sib sau ua ke li no, `(MPS II)` kab mob koom nrog pawg kab mob hu ua `(Lysosomal storage disorder)`. Vim yog cov kev sib sau ua ke no ua rau ntau yam kab mob thiab cov nqaij ntawm lub cev raug puas tsuaj.

Leej twg muaj feem yuav muaj qhov teeb meem no ntau dua?

Yog tias muaj ib tug neeg hauv tsev neeg, uas yog, ib tug neeg uas muaj feem cuam tshuam nrog kab mob, muaj tus kab mob no, qhov kev pheej hmoo ntawm lwm tus neeg yuav muaj tus kab mob no ntau dua.

Raws li peb tau hais ua ntej lawm, cov tub hluas feem ntau yuav tau txais tus kab mob no. Qhov no yog vim tus kab mob no txuas nrog rau X chromosome. Koj paub, cov ntxhais tau txais ob X chromosomes, cov tub hluas tau txais ib X chromosome thiab ib Y chromosome. Yog li, txawm tias ib tug ntxhais tau txais X chromosome nrog cov noob caj noob ces tsis zoo no, lwm tus X chromosome noj qab haus huv tuaj yeem muab cov enzyme tsim nyog. Yog li lawv yuav tsis qhia cov tsos mob thiab yog tus nqa khoom. Tab sis yog tias ib tug tub hluas tau txais X chromosome nrog cov noob caj noob ces tsis zoo ntawd, nws yuav kis tus kab mob vim nws tsis muaj lwm X chromosome.

Cov teeb meem uas yuav tshwm sim los ntawm Hunter Syndrome yog dab tsi?

Nyob ntawm seb tus kab mob no hnyav npaum li cas, muaj ntau yam teeb meem tshwm sim. Cov kws kho mob siv tshuaj thiab qee zaum txawm phais los tswj cov teeb meem no. Cia peb saib seb cov teeb meem no yog dab tsi:

• Ua pa nyuaj: Ua pa nyuaj tuaj yeem tshwm sim vim yog cov nqaij ntshiv tuab thiab thaiv cov hlab pa.
• Kab mob plawv (`(Kab mob plawv)`).
• Kev txawv txav hauv cov pob qij txha thiab pob txha.
• Maj mam ua rau lub hlwb ua haujlwm tsis zoo.
• Kab mob Carpal tunnel syndrome ('(Carpal tunnel syndrome)')Ib qho mob uas tshwm sim los ntawm kev nias ntawm cov hlab ntsha hauv thaj tsam dab teg.
• Kab mob Hernias (`(Hernias)`).
• Cov mob xws li qaug dab peg ('(Seizures)').
• Teeb meem kev coj cwj pwm.

Cov teeb meem no tsis tshwm sim tib yam rau txhua tus. Lawv tuaj yeem sib txawv nyob ntawm tus menyuam tus mob. Yog li ntawd, nws yog ib qho tseem ceeb uas yuav tsum nrog kws kho mob tham tsis tu ncua thiab paub txog tus menyuam tus mob.

Koj paub li cas yog tias koj muaj tus kab mob Hunter Syndrome?

Koj tus menyuam tus kws kho mob yuav ua ntau yam kev kuaj mob kom paub tseeb tias nws puas muaj tus kab mob no.

• Kev kuaj zis: Qhov no kuaj seb puas muaj cov piam thaj ntau dhau hauv cov zis (hu ua GAGs).
• Kev kuaj ntshav: Qhov no tuaj yeem txiav txim siab seb qhov ua haujlwm ntawm cov enzyme '(I2S)' hauv cov ntshav puas qis lossis tsis muaj. Qhov no kuj yog ib qho tsos mob tseem ceeb ntawm tus kab mob.
• Kev kuaj noob caj noob ces: Qhov no yog qhov txiav txim siab seb puas muaj kev hloov pauv hauv cov noob caj noob ces IDS tshwj xeeb.

Cov kev kho mob rau Hunter Syndrome yog dab tsi?

Tus mob Hunter Syndrome raug kho raws li tus menyuam cov tsos mob. Qhov no xav tau kev txhawb nqa los ntawm ib pab pawg kws tshwj xeeb. Cov neeg uas muaj kev txawj ntse hauv ntau qhov chaw ua haujlwm ua ke los tswj tus menyuam tus mob. Lub hom phiaj tseem ceeb ntawm kev kho mob yog kom qeeb qeeb qhov kev loj hlob ntawm tus kab mob, txheeb xyuas thiab kho cov teeb meem uas yuav tshwm sim los ntawm tus kab mob thaum ntxov, thiab txhim kho tus menyuam lub neej zoo.

Txoj kev kho mob zoo tshaj plaws uas muaj tam sim no los ua tiav cov hom phiaj no yog kev kho mob hloov enzyme ("(Enzyme replacement therapy)"). Hauv qhov no, cov enzyme "(I2S)" uas ploj lawm raug hloov los ntawm cov enzyme uas tib neeg tsim ("Idursulfase (Elaprase®))"). Kev kho mob no feem ntau yog muab rau hauv cov hlab ntsha ib zaug ib lub lim tiam.

Ntxiv mus, kev tshawb fawb txog kev kho mob gene (lossis kev kho gene) tam sim no tab tom ua. Qhov no yuav coj kev cia siab loj rau cov neeg mob uas muaj Hunter Syndrome yav tom ntej. Txawm li cas los xij, cov txiaj ntsig tseem tos.

Puas muaj ib txoj kev los tiv thaiv qhov no?

Vim qhov no yog ib qho mob caj ces, hmoov tsis zoo nws tsis tuaj yeem tiv thaiv tau. Txawm li cas los xij, nws yog ib qho tseem ceeb heev rau cov niam txiv ntawm tus menyuam uas muaj Hunter Syndrome tham nrog tus kws pab tswv yim caj ces ua ntej muaj lwm tus menyuam. Tus kws tshwj xeeb no tuaj yeem pab cov niam txiv nkag siab txog kev pheej hmoo ntawm kev kis tus mob mus rau lwm tus menyuam.

Yav tom ntej rau ib tus neeg uas muaj tus kab mob Hunter Syndrome yuav zoo li cas?

Tseem tsis tau pom ib txoj kev kho mob tag nrho rau qhov no.Cov mob hnyav heev ntawm tus kab mob no tuaj yeem ua rau tuag taus. Lub neej nruab nrab ntawm cov menyuam yaus zoo li no yog li ntawm 10 thiab 20 xyoo. Txawm li cas los xij, cov neeg uas muaj tus kab mob me me tuaj yeem nyob ntev dua, mus txog thaum lawv loj hlob.

Rau ntau tus neeg, kev kho mob xws li tshuaj, kev kho lub cev, thiab kev phais mob tuaj yeem pab tswj cov teeb meem ntawm tus kab mob thiab txhim kho lawv lub neej zoo.

Puas yog kuv tus menyuam yuav ua tau haujlwm li qub dua?

Cov menyuam yaus uas muaj tus kab mob Hunter Syndrome yuav muaj teeb meem nrog kev ua ub ua no txhua hnub thiab kev txav mus los vim lawv cov tsos mob maj mam zuj zus tuaj. Tej zaum yuav tsum tau hloov qee yam kev ua ub ua no. Koj tus menyuam tus kws kho mob yuav nrog koj tham txog kev ua ub ua no thiab kev kho mob uas tuaj yeem pab koj daws cov tsos mob.

Koj yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj tus menyuam pib muaj cov tsos mob ntawm Hunter Syndrome, lossis yog tias koj pom tias kev loj hlob qeeb, hu rau koj tus menyuam tus kws kho mob tam sim ntawd. Kev pib kho mob thaum ntxov tuaj yeem pab tiv thaiv kev puas tsuaj mus tas li rau cov kabmob thiab cov nqaij.

Koj yuav tsum nug tus kws kho mob li cas?

Thaum koj paub tias koj tus menyuam muaj Hunter Syndrome, koj tuaj yeem nug cov lus nug ntawm tus kws kho mob zoo li no:

• Hunter Syndrome hnyav npaum li cas?
• Kuv tus menyuam txoj kev kwv yees rau lub sijhawm luv luv thiab ntev yuav zoo li cas?
• Tus kab mob no yuav cuam tshuam li cas rau kuv tus menyuam lub neej?
• Cov kev xaiv kho mob yog dab tsi?

Nug cov lus nug no thiab daws txhua yam kev tsis ntseeg uas koj muaj. Vim tias koj paub ntau ntxiv, koj yuav muaj peev xwm pab koj tus menyuam zoo dua.

Qhov txawv ntawm Hunter thiab Hurler syndrome yog dab tsi?

Hunter Syndrome thiab Hurler Syndrome yog ob hom kab mob hauv pawg kab mob hu ua "Lysosomal storage disorders", "Mucopolysaccharidoses".

Hurler syndrome yog hom mob hnyav tshaj plaws ntawm tus kab mob Mucopolysaccharidosis hom I (MPS I). Hauv MPS I, qhov enzyme alpha-L-iduronidase tsis txaus. Hurler syndrome hnyav dua li Hunter syndrome.

Ib tsab xov coj mus tsev

Kuv nkag siab tias nws nyuaj npaum li cas los paub tias koj tus menyuam muaj tus mob zoo li Hunter Syndrome. Nws tuaj yeem ua rau koj mob siab, tshwj xeeb tshaj yog thaum koj hnov ​​​​txog koj tus menyuam lub neej ntev. Thaum lub sijhawm nyuaj no, nco ntsoov tias koj tsis nyob ib leeg.

Qhov tseem ceeb tshaj plaws yog ua haujlwm nrog koj tus menyuam cov kws kho mob kom paub ntau li ntau tau txog tus kab mob thiab nws txoj kev kho mob. Tsis tas li ntawd, nyob ib puag ncig koj tus kheej nrog cov neeg txhawb nqa, xws li koj cov phooj ywg thiab tsev neeg. Lawv txoj kev txhawb nqa thiab kev nplij siab yuav yog qhov chaw zoo ntawm lub zog thaum lub sijhawm no. Nco ntsoov tias, nrog txhua qhov kev cov nyom, muaj kev cia siab.

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