Koj tus me nyuam puas muaj cov tsos mob no? Cia peb kawm txog Sanfilippo Syndrome

Koj puas pom muaj kev hloov pauv ntawm koj tus menyuam tus cwj pwm, kev hais lus, lossis qhov tsos uas koj pom tias nyuaj rau nkag siab? Qee zaum peb tsis paub ntau txog qee yam kab mob uas cuam tshuam rau cov menyuam yaus, yog li peb pib xav txog ib yam tom qab ib yam. Hnub no, peb yuav tham txog ib qho mob uas nyuaj me ntsis, tab sis yog ib qho uas txhua tus yuav tsum paub txog. Qhov no hu ua Sanfilippo syndrome . Tsis txhob txhawj, peb yuav tham txog nws kom meej thiab yooj yim.

Sanfilippo Syndrome yog dab tsi?

Hais yooj yim xwb, Sanfilippo syndrome yog ib yam mob caj ces uas tau txais los ntawm noob caj ces . Qhov tseeb, nws yog ib pawg kab mob. Nws feem ntau cuam tshuam rau koj tus menyuam lub paj hlwb , uas yog lub hlwb thiab tus txha caj qaum. Qhov no tuaj yeem ua rau muaj ntau yam tsos mob hauv tus menyuam lub hlwb, tus cwj pwm, thiab lub cev. Hmoov tsis zoo, cov tsos mob no feem ntau yuav hnyav zuj zus tuaj, thiab qhov mob no tuaj yeem ua rau cov menyuam yaus lub neej luv dua.

Lwm lub npe rau qhov no yog mucopolysaccharidosis hom III (MPS III) .

Xav txog nws, hauv peb lub hlwb muaj cov "chaw pov tseg khib nyiab me me." Cov no hu ua lysosomes . Cov no yog cov uas rhuav tshem thiab tshem tawm cov khoom tsis xav tau, lossis "khib nyiab," uas tsim nyob rau hauv lub hlwb. Ib tug menyuam uas muaj Sanfilippo syndrome tsis txaus ib qho ntawm plaub lub enzymes uas xav tau los rhuav tshem cov carbohydrate hu ua heparan sulfate ( tseem hu ua glycosaminoglycan ). Vim tias cov enzyme no tsis ua haujlwm zoo, cov tshuaj hu ua heparan sulfate tsim nyob rau hauv tus menyuam lub hlwb, cov ntaub so ntswg, thiab cov kabmob. Qhov kev tsim no ua rau lawv puas tsuaj. Qhov no yog qhov peb hu ua lysosomal storage disorder .

Puas muaj hom mob Sanfilippo Syndrome?

Yog, muaj plaub hom tseem ceeb ntawm qhov no. Txhua hom yog tshwm sim los ntawm qhov tsis txaus ntawm cov enzyme sib txawv.

• Hom A: Tsis muaj peev xwm ua haujlwm ntawm cov enzyme sulfamidase.
• Hom B: Tsis muaj peev xwm ua haujlwm ntawm cov enzyme alpha-N-acetylglucosaminidase.
• Hom C: Tsis txaus cov enzyme heparan acetyl CoA: alpha-glucosaminide N-acetyltransferase.
• Hom D: Tsis muaj peev xwm ua haujlwm ntawm cov enzyme N-acetylglucosamine 6-sulfatase.

Ntawm cov no, hom A yog hom kab mob uas pom ntau tshaj plaws thoob ntiaj teb , thaum hom D yog hom uas pom tsawg tshaj plaws.

Tus mob no feem ntau tshwm sim li cas?

Sanfilippo syndrome yog ib qho mob tsis tshua muaj.Raws li cov kws tshawb fawb, qhov no cuam tshuam txog li ib ntawm 50,000 txog 250,000 tus neeg. Yog li koj tuaj yeem pom tias qhov no tsis tshua muaj.

Cov tsos mob ntawm Sanfilippo Syndrome yog dab tsi?

Cov tsos mob thiab qhov hnyav ntawm tus mob no yuav txawv ntawm ib tug me nyuam mus rau ib tug me nyuam, thiab nyob ntawm seb hom kab mob yog dab tsi. Qee cov tsos mob thaum ntxov uas yuav pom tau rau cov menyuam mos thiab cov menyuam yaus muaj xws li:

• Cov yam ntxwv ntawm lub ntsej muag ntxhib .
• Cov plaub muag ntshiab, dav.
• Muaj cov plaub hau ntawm lub cev ntau dua li qub (hirsutism) tsis txo qis raws sijhawm.
• Loj dua li lub taub hau ib txwm (macrocephaly).
• Kev pw tsaug zog tsis zoo, ua rau pw tsaug zog tsis taus.
• Teeb meem ua pa, piv txwv li, pob ntseg thiab/lossis qhov ntswg txhaws, ua pa nyuaj.
• Mob plab heev thiab quaj (zoo li colic).
• Raws plab ntau zaus.

Tej zaum koj yuav tsis pom cov tsos mob thaum ntxov no tam sim ntawd. Thaum koj tus menyuam loj hlob tuaj, lwm cov tsos mob ntsig txog Sanfilippo syndrome yuav pib tshwm sim. Cov tsos mob no feem ntau tshwm sim ntawm hnub nyoog 1 thiab 4 xyoos .

Cov yam ntxwv ntsig txog lub paj hlwb thiab tus cwj pwm:

• Kev hais lus thiab kev txawj lus qeeb (feem ntau yog ib qho tsos mob thaum ntxov).
• Ib tug me nyuam txoj kev loj hlob qeeb yam tsis muaj laj thawj tshwj xeeb (kev loj hlob qeeb uas tsis yog tshwj xeeb).
• Lub peev xwm ntawm kev txawj ntse poob qis zuj zus raws sijhawm.
• Kev coj cwj pwm nruj lossis kev puas tsuaj .
• Kev ua ub ua no ntau dhau.
• Kev coj cwj pwm tsis muaj lub luag haujlwm, kev npau taws sai sai (kev chim siab).
• Tsis ntshai tej yam txaus ntshai.
• Tom, rhuav, nqus, lossis nqos ntau zaus (hyperorality).
• Tsis so.
• Teeb meem pw tsaug zog - ntshai mus pw tsaug zog, parasomnias, thiab pw tsaug zog apnea.
• Kev hloov pauv ntawm tus qauv kev taug kev, piv txwv li, kev taug kev ntiv taw .
• Lub cev tsis khov, spasticity.
• Qaug dab peg.

Cov tsos mob ntawm pob ntseg, qhov ntswg, thiab caj pas:

• Kev hnov ​​​​lus tsis zoo.
• Kab mob pob ntseg ntau zaus (otitis).
• Mob qhov ntswg tas li.
• Yuav tsum tau muab cov adenoids thiab tonsils tshem tawm (adenotonsillectomy) ua ntej cov menyuam yaus ib txwm.

Lwm cov tsos mob:

• Mob raws plab ntev los yog cem quav.
• Cem quav.
• Mob plab.
• Lub plawv dhia tsis sib xws (arrhythmia).
• Kab mob plawv (cardiomyopathy).
• Kev sib koom ua ke.
• Kab mob Scoliosis.

Dab tsi ua rau muaj Sanfilippo Syndrome?

Raws li peb tau hais ua ntej, Sanfilippo syndrome yog ib qho kab mob Lysosomal Storage Disease (LSD).Nws yog ib yam kab mob caj ces uas yog ib feem ntawm pawg neeg hu ua. Cov neeg uas muaj tus kab mob no khaws cov tshuaj lom hauv lawv lub cev. Qhov laj thawj rau qhov no yog vim qee cov enzymes hauv lawv lub cev tsis ua haujlwm zoo lossis ploj lawm . Thaum cov enzymes no ploj lawm, peb lub cev tsis tuaj yeem rhuav tshem thiab tshem tawm qee cov tshuaj. Thaum lawv khaws cia hauv lub cev lawv ua rau muaj kev phom sij.

Hauv Sanfilippo syndrome, ib qho ntawm plaub lub enzymes uas pab rhuav tshem ib yam khoom hu ua heparan sulfate ploj lawm. Heparan sulfate ces sib sau ua ke hauv cov cell thiab ua puas rau lawv. Qhov kev sib sau ua ke no feem ntau cuam tshuam rau cov cell hlwb ntawm tus menyuam .

Cov enzyme tsis txaus no yog tshwm sim los ntawm kev hloov pauv caj ces , tshwj xeeb yog kev hloov pauv hauv cov noob caj ces zoo li SGSH noob caj ces .

Cov kev hloov pauv caj ces no yog tus menyuam tau txais los ntawm ob leeg niam txiv. Qhov no hu ua tus qauv autosomal recessive ntawm kev txais qub txeeg qub teg. Qhov no txhais tau tias ob leeg niam txiv yuav tsum yog cov neeg nqa cov noob hloov pauv. Txawm li cas los xij, tus neeg nqa cov noob no feem ntau tsis qhia cov tsos mob.

Koj kuaj mob no li cas kom meej?

Vim tias tus kab mob Sanfilippo tsis tshua muaj thiab nws cov tsos mob zoo ib yam li lwm yam mob uas tshwm sim , feem ntau kev kuaj mob tuaj yeem qeeb. Cov kws kho mob yuav kuaj mob tsis raug raws li kev loj hlob qeeb, Kev Xav Tsis Thoob/Kev Ua Si Tsis Tau Zoo (ADHD) , lossis autism .

Koj tus menyuam tus kws kho mob yuav kuaj lub cev thiab kuaj lub paj hlwb. Lawv kuj tseem yuav nug txog koj tus menyuam cov tsos mob thiab keeb kwm kev kho mob. Lawv kuj tseem yuav xaj kom kuaj seb puas muaj lwm yam mob.

Cov kev kuaj mob uas pab paub tseeb tias muaj tus kab mob Sanfilippo syndrome yog:

• Kev kuaj zis GAG: Yuav kuaj ib daim qauv zis ntawm tus menyuam seb puas muaj ib yam khoom hu ua glycosaminoglycans (GAG) .
• Kev tshuaj xyuas cov enzyme: Kev ua haujlwm ntawm cov enzymes cuam tshuam raug ntsuas hauv cov qauv ntshav.
• Kev kuaj noob caj noob ces: Qhov kev kuaj no tuaj yeem kuaj xyuas seb puas muaj kev hloov pauv noob caj noob ces (kev hloov pauv) uas paub tias muaj feem cuam tshuam nrog Sanfilippo syndrome.

Ntxiv mus, tus kws kho mob yuav pom zoo kom kuaj lwm yam seb puas muaj kev puas tsuaj rau cov kab mob lossis cov nqaij ntawm tus menyuam. Piv txwv li:

• Kev tshuaj xyuas MRI ntawm lub hlwb.
• Kev kuaj qhov muag.
• Kev kuaj pob ntseg.
• Kev kuaj plawv - xws li echocardiogram thiab electrocardiogram (EKG) .
• Kev kawm txog kev pw tsaug zog.
• Kev kuaj mob X-ray.

Kev kuaj mob ua ntej yug menyuam

Yog tias ib tug neeg hauv koj tsev neeg tau muaj tus kab mob Sanfilippo syndrome, koj tus kws kho mob yuav pom zoo kom kuaj koj tus menyuam hauv plab rau qhov mob thaum cev xeeb tub. Qhov no tuaj yeem ua tiav los ntawm kev kuaj xws li amniocentesis lossis chorionic villus sampling .

Cov kev kho mob rau Sanfilippo Syndrome yog dab tsi?

Tu siab kawg li, tam sim no tsis muaj kev kho mob lossis kev kho mob hloov kho kab mob rau Sanfilippo syndrome . Kev kho mob feem ntau yog tsom mus rau kev tswj cov tsos mob thiab kev saib xyuas palliative . Vim tias tus mob cuam tshuam rau ntau yam ntawm tus menyuam txoj kev noj qab haus huv, xav tau ib pab pawg kws kho mob ntau yam los kho tus menyuam. Pab neeg no yuav suav nrog:

• Cov kws kho mob menyuam yaus.
• Cov kws kho mob hlwb menyuam yaus.
• Cov kws kho lub cev.
• Cov kws kho mob ua haujlwm.
• Cov kws kho mob hais lus.
• kws kho mob pob ntseg, qhov ntswg, thiab caj pas (cov kws kho mob tshwj xeeb).
• Cov kws kho mob hlwb menyuam yaus.
• Cov neeg ua haujlwm pabcuam zej zog.
• Cov kws qhia tshwj xeeb.

Cov kws tshwj xeeb no pom zoo kom siv cov tshuaj, kev kho mob, thiab cov khoom siv pab cuam uas tsim los rau tus menyuam. Lub hom phiaj tseem ceeb ntawm kev kho mob yog kom tus menyuam ua ub ua no tau zoo, ua kom nws lub peev xwm ua tau zoo tshaj plaws, thiab ua kom nws lub neej zoo tshaj plaws.

Koj tus menyuam kuj tseem yuav muaj lub sijhawm los koom nrog kev sim tshuaj . Nug pab pawg kws kho mob ntawm koj tus menyuam txog qhov no. Cov kws tshawb fawb tam sim no tab tom kawm txog kev kho mob tshwj xeeb rau Sanfilippo syndrome. Piv txwv li:

• Kev kho mob hloov enzyme.
• Kev hloov hlwb ntawm cov noob qes.
• Kev kho mob noob caj noob ces.

Nyob rau theem tom qab ntawm tus kab mob, qhov tseem ceeb ntawm kev kho mob yog kom tswj tau qhov zoo ntawm lub neej thiab tiv thaiv cov teeb meem.

Yog tias kuv tus menyuam muaj Sanfilippo Syndrome, kuv yuav tsum xav li cas?

Yog tias koj tus menyuam muaj tus kab mob Sanfilippo, koj yuav muaj sijhawm mus ntsib kws kho mob thiab kuaj mob ntau zaus. Nws yuav nyuaj rau nkag siab txog tus mob nyuaj no ib zaug. Tab sis nco ntsoov, pab pawg kws kho mob ntawm koj tus menyuam nrog koj txhua kauj ruam ntawm txoj kev. Vim tias tus kab mob Sanfilippo cuam tshuam rau txhua tus menyuam sib txawv, pab pawg kws kho mob ntawm koj tus menyuam tuaj yeem qhia koj zoo tshaj plaws txog yav tom ntej rau koj tus menyuam thiab koj tsev neeg.

Thaum kawg ntawm Sanfilippo syndrome, koj tus menyuam yuav muaj cov tsos mob hauv qab no:

• Txo kev sib txuas lus nrog lawv ib puag ncig.
• Kev puas hlwb .
• Kev poob ntawm kev ua haujlwm ntawm lub cev xws li kev taug kev, kev hais lus, thiab kev noj mov.

Cov teeb meem kev noj qab haus huv no hnyav zuj zus tuaj thiab thaum kawg tuaj yeem ua rau tuag tau. Cov kab mob ntawm txoj hlab pa, tshwj xeeb yog mob ntsws , yog cov ua rau tuag feem ntau.

Lub neej cia siab ntawm ib tus neeg uas muaj tus kab mob Sanfilippo Syndrome yog dab tsi?

Hauv kev tshawb fawb ntawm 113 tus neeg mob uas muaj Sanfilippo syndrome, qhov nruab nrab ntawm lub neej ntev yog:

• Hom A: Nruab nrab ntawm 11 thiab 19 xyoo.
• Hom B: Nruab nrab ntawm 12 thiab 16 xyoo.
• Hom C: Nruab nrab ntawm 14 thiab 32 xyoo.

Hom D tsis tshua muaj, yog li tsis muaj ntaub ntawv txaus txog nws.

Tiam sis, qhov tseem ceeb tshaj plaws, txhua tus menyuam uas muaj tus kab mob Sanfilippo txawv . Pab neeg kho mob ntawm koj tus menyuam yuav yog tus neeg zoo tshaj plaws los qhia koj txog qhov mob yuav cuam tshuam li cas rau koj tus menyuam txoj kev noj qab haus huv.

Puas tiv thaiv tau tus kab mob Sanfilippo Syndrome?

Vim tias Sanfilippo syndrome yog ib yam kab mob uas muaj los ntawm noob caj noob ces, tsis muaj ib yam dab tsi uas koj ua tau los tiv thaiv nws .

Ua ntej koj muaj menyuam, yog tias koj txhawj xeeb txog qhov kev pheej hmoo ntawm kev kis tus kab mob Sanfilippo lossis lwm yam mob caj ces rau koj tus menyuam, nws yog ib lub tswv yim zoo los tham nrog kws kho mob thiab tau txais kev sab laj txog caj ces .

Yog tias kuv tus menyuam muaj tus kab mob Sanfilippo Syndrome, kuv yuav tsum saib xyuas nws li cas?

Yog koj tus menyuam muaj tus kab mob Sanfilippo syndrome, nws yog ib qho tseem ceeb heev uas yuav tsum xyuas kom meej tias lawv tau txais kev kho mob zoo tshaj plaws . Los ntawm kev tawm tswv yim rau koj tus menyuam, koj tuaj yeem pab xyuas kom meej tias lawv muaj lub neej zoo tshaj plaws.

Koj thiab koj tsev neeg kuj tuaj yeem koom nrog ib pawg neeg txhawb nqa uas koj tuaj yeem ntsib lwm tus uas tau muaj kev paub zoo sib xws. Qhov no tuaj yeem yog qhov chaw zoo ntawm lub zog.

Cov mob uas maj mam ua rau lub paj hlwb tsis muaj zog, xws li Sanfilippo syndrome, tuaj yeem muaj kev cuam tshuam loj heev rau koj thiab koj tsev neeg txoj kev noj qab haus huv ntawm lub hlwb thiab lub neej zoo. Cov niam txiv thiab cov neeg saib xyuas cov menyuam uas muaj Sanfilippo syndrome muaj feem yuav muaj mob xws li Post-Traumatic Stress Disorder (PTSD) . Yog li ntawd, koj yuav tsum saib xyuas koj txoj kev noj qab haus huv ntawm lub hlwb. Yog tias koj muaj kev nyuaj siab, ntxhov siab, lossis kev ntxhov siab ntev, nco ntsoov mus ntsib kws kho mob hlwb lossis kws pab tswv yim.

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

Koj yuav tsum kom pab pawg kho mob ntawm koj tus menyuam kuaj xyuas lawv tsis tu ncua txhua 6 txog 12 lub hlis (lossis ntau zaus dua) kom pom kev hloov pauv ntawm lawv lub peev xwm txawj ntse, kev txawj txav mus los, thiab tus cwj pwm. Yog tias koj pom muaj cov tsos mob tshiab, lossis yog tias koj cov tsos mob zoo li hnyav zuj zus, tham nrog pab pawg kho mob ntawm koj tus menyuam tam sim ntawd.

Thaum kawg, tej yam uas yuav tsum nco ntsoov

Nws yog ib qho ib txwm muaj uas koj yuav xav tsis thoob thiab poob siab thaum koj hnov ​​​​​​tias muaj tus kab mob Sanfilippo. Tab sis nco ntsoov, pab pawg kho mob ntawm koj tus menyuam yuav muab ib txoj kev npaj tswj hwm uas tshwj xeeb rau koj tus menyuam. Nws yog ib qho tseem ceeb kom paub tseeb tias koj, koj tus menyuam, thiab koj tsev neeg tau txais kev txhawb nqa uas lawv xav tau, thiab kom ceev faj txog kev noj qab haus huv ntawm koj tus menyuam. Pab pawg kho mob ntawm koj tus menyuam npaj txhij los txhawb nqa koj txhua kauj ruam ntawm txoj kev. Tsis txhob ntshai, ntsib qhov kev sib tw no nrog kev ua siab loj. Tsis txhob yig los kawm cov ntaub ntawv koj xav tau, nug cov lus nug, thiab tau txais kev pab uas koj xav tau.

Sanfilippo syndrome, cov kab mob caj ces, cov kab mob menyuam yaus, lub paj hlwb, cov enzymes, mucopolysaccharidosis